Genomic Feature
zf2064
- ID
- ZDB-ALT-190321-8
- Name
- zf2064
- Synonyms
- None
- Affected Genomic Region
- Construct
- None
- Type
- Allele with one deletion (1)
- Protocol
- embryos treated with
- Lab of Origin
- Current Source
- Other Pages
Notes
No data available
Variants
- Variant Type
- Small Deletion
- Variant Location
- Chr 22: 1177277 - 1177284 (GRCz11) (1) Details
- Nucleotide change
- AAAGAGGT/-
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- 8 bp deleted from position 772 to 779 in Exon 6 (1)
- Transcript Consequence
- Frameshift, Premature Stop (1)
- Protein Consequence
- Polypeptide Truncation (1)
- Flanking Sequence
-
CTTAGCAGTGTGATTAAAAATGTAAGAAAAATGTTAGCATCATGCTAATTCACACTAACAAGGTAAACATTAGCTAGATAACTCACGCTAACATAGTATTATTGTATTTTAGCTCTGGTGAACTATGCTAGAAATATGTAAACATGCTAATTCATGCTATCACAGCCTAAAACATGCTAGCAAACATGTTATCTTTACCCTGAAATATGCCAAATTCATGCTACACACGTAAAAACTAACATCAACTTAAACATGTTAGCAAAATATGCTAACTGATGTAATCATAACATCAAAACATGCTAGCAAACATGTTAGAAGTGTTGACAACGTGCTAGTTAGTTAACACTGTGTTTGTTAGCAAAACATGTCAGAAATGTGCTAAAGCAACATGTAAATTCCTTTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTCTCTCCGTGTATGTGTCTGCAGTGACGGATCTGGAGGTGCAGTTCTACTACCGCGGT
AAAGAGGT/- GTGTCCCCCATTGACGGTCAGTAACCCGCAGGGCTGTCGTCTGTTTTACGGGGACCTGGGCCCCATAGTGAACCAAGAGGAGCTGTTCGGCCCCGTGAGCCTGGAGCAGGTGCGCTTCCCGCCCACAGAGCACATCGCTAACGATAAGCAGCGCGTGTTCACTAGCCGGCTGCTGGACGTGATGGACCGCGGGCTCATCCTGGAGGTCAGCGGGCACGACATCTACGCCGTGCGCCTCTGCCAGTGTAAGGTGTACTGGTCCGGTCCCTGCGCCCCCAACCCAAACGCTCCCAACCTGATCGAGCGCCAGCAAAAGGTCAAGCTCTTCTGCCTCGAGTCCTTTCTCAGCGGTGAGAGACTCTCATTATTCATATGATATGAGGAGGCAGGGATACAGCCGCCTAGGTCGCCTCTATGGACGCGCCGGCCCTGACTGTTGTTGGAGACCCTTACAACCAAAATATGACCCTATTTCATGTATAATATGGGCTCTTTAAAAC - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| irf6zf2064/zf2064 | Homozygous | ♀-/- | Fig. 3 from Zhang et al., 2020 | ||
| irf6zf2064/zf2064 (TU) | Homozygous | ♀-/- ♂-/- | 2 figures  from 2 publications | ||
| irf6zf2064/+ (TU) | Heterozygous | ♀-/- ♂+/+ | Fig. 1 from Li et al., 2017 | ||
| irf6zf2064/+ (TU) | Heterozygous | ♀+/+ ♂-/- | Fig. 1 from Li et al., 2017 | ||
| irf6zf2064 (TU) | Unknown | ♀-/- | Fig. 1 from Li et al., 2017 | Fig. 3 from Li et al., 2017 |
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Supplemental Information
- Genotyping protocol
- None
- Murali, H., Wang, P., Liao, E.C., Wang, K. (2024) Genetic variant classification by predicted protein structure: A case study on IRF6. Computational and structural biotechnology journal. 23:892904892-904
- Carroll, S.H., Macias Trevino, C., Li, E.B., Kawasaki, K., Myers, N., Hallett, S.A., Alhazmi, N., Cotney, J., Carstens, R.P., Liao, E.C. (2020) An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates. Development (Cambridge, England). 147(24):
- Zhang, M., Zhang, J., Zhao, H., Ievlev, V., Zhong, W., Huang, W., Cornell, R.A., Lin, J., Chen, F. (2020) Functional Characterization of a Novel IRF6 Frameshift Mutation From a Van Der Woude Syndrome Family. Frontiers in genetics. 11:562
- Li, E.B., Truong, D., Hallett, S.A., Mukherjee, K., Schutte, B.C., Liao, E.C. (2017) Rapid functional analysis of computationally complex rare human IRF6 gene variants using a novel zebrafish model. PLoS Genetics. 13:e1007009
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