Gene
megf10
- ID
- ZDB-GENE-080506-1
- Name
- multiple EGF-like-domains 10
- Symbol
- megf10 Nomenclature History
- Previous Names
-
- fc33e05
- wu:fc33e05 (1)
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Predicted to enable scavenger receptor activity. Involved in positive regulation of muscle tissue development. Acts upstream of or within myofibril assembly. Predicted to be located in plasma membrane. Used to study myopathy. Human ortholog(s) of this gene implicated in congenital myopathy 10B and early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome. Orthologous to human MEGF10 (multiple EGF like domains 10).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
sa6165 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa6166 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa13029 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa21693 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa30934 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa34867 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa34868 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa34869 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa38788 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa41612 | Allele with one point mutation | Unknown | Splice Site | ENU |
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Targeting Reagent | Created Alleles | Citations |
---|---|---|
CRISPR1-megf10 | Campbell et al., 2020 | |
CRISPR2-megf10 | Campbell et al., 2020 | |
MO1-megf10 | N/A | (2) |
MO2-megf10 | N/A | Boyden et al., 2012 |
MO3-megf10 | N/A | Boyden et al., 2012 |
MO4-megf10 | N/A | Boyden et al., 2012 |
MO5-megf10 | N/A | Melvin et al., 2013 |
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Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
congenital myopathy 10B | Alliance | Congenital myopathy 10B, mild variant | 620249 |
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome | Alliance | Congenital myopathy 10A, severe variant | 614399 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
myopathy | megf10sa13029/sa13029 | standard conditions | Saha et al., 2019 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Additional Resources | Length | EGF-like, conserved site | EGF-like domain | EMI domain | Laminin-type EGF domain | MEGF10/SREC1/2-like |
---|---|---|---|---|---|---|---|
UniProtKB:A0A8M1QV85 | InterPro | 1120 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
megf10-201
(1)
|
Ensembl | 3,544 nt | ||
mRNA |
megf10-203
(1)
|
Ensembl | 3,225 nt | ||
mRNA |
megf10-204
(1)
|
Ensembl | 3,429 nt | ||
ncRNA |
megf10-002
(1)
|
Ensembl | 797 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | DKEY-184A18 | ZFIN Curated Data | |
Encodes | EST | fc33e05 |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001423788 (1) | 4871 nt | ||
Genomic | GenBank:CR396586 (1) | 225060 nt | ||
Polypeptide | UniProtKB:A0A8M1QV85 (1) | 1120 aa |
- White, R.J., Mackay, E., Wilson, S.W., Busch-Nentwich, E.M. (2022) Allele-specific gene expression can underlie altered transcript abundance in zebrafish mutants. eLIFE. 11:
- Hoffmann, S., Schmitteckert, S., Raedecke, K., Rheinert, D., Diebold, S., Roeth, R., Weiss, B., Granzow, M., Niesler, B., Griesbeck, A., Eckstein, V., Zimmermann, W.H., Just, S., Rappold, G.A. (2021) Network-driven discovery yields new insight into Shox2-dependent cardiac rhythm control. Biochimica et biophysica acta. Gene regulatory mechanisms. 1864(4-5):194702
- Campbell, J.S., Davidson, A.J., Todd, H., Rodrigues, F.S.L.M., Elliot, A.M., Early, J.J., Lyons, D.A., Feng, Y., Wood, W. (2020) PTPN21/Pez Is a Novel and Evolutionarily Conserved Key Regulator of Inflammation In Vivo. Current biology : CB. 31(4):875-883.e5
- Saha, M., Rizzo, S.A., Ramanathan, M., Hightower, R.M., Santostefano, K.E., Terada, N., Finkel, R.S., Berg, J.S., Chahin, N., Pacak, C.A., Wagner, R.E., Alexander, M.S., Draper, I., Kang, P.B. (2019) Selective serotonin reuptake inhibitors ameliorate MEGF10 myopathy. Human molecular genetics. 28:2365-2377
- Sullivan, C., Lage, C.R., Yoder, J.A., Postlethwait, J.H., Kim, C.H. (2017) Evolutionary divergence of the vertebrate TNFAIP8 gene family: Applying the spotted gar orthology bridge to understand ohnolog loss in teleosts. PLoS One. 12:e0179517
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- Rossi, A., Kontarakis, Z., Gerri, C., Nolte, H., Hölper, S., Krüger, M., Stainier, D.Y. (2015) Genetic compensation induced by deleterious mutations but not gene knockdowns. Nature. 524(7564):230-3
- Maugars, G., Dufour, S., Cohen-Tannoudji, J., Quérat, B. (2014) Multiple Thyrotropin β-Subunit and Thyrotropin Receptor-Related Genes Arose during Vertebrate Evolution. PLoS One. 9:e111361
- Melvin, V.S., Feng, W., Hernandez-Lagunas, L., Artinger, K.B., and Williams, T. (2013) A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis. Developmental Dynamics : an official publication of the American Association of Anatomists. 242(7):817-31
- Boyden, S.E., Mahoney, L.J., Kawahara, G., Myers, J.A., Mitsuhashi, S., Estrella, E.A., Duncan, A.R., Dey, F., Dechene, E.T., Blasko-Goehringer, J.M., Bönnemann, C.G., Darras, B.T., Mendell, J.R., Lidov, H.G., Nishino, I., Beggs, A.H., Kunkel, L.M., and Kang, P.B. (2012) Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. Neurogenetics. 13(2):115-124
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