Genomic Feature
s587a
Notes
No data available
Variants
- Variant Type
- Point Mutation
- Variant Location
- Chr 8: 53922017 (GRCz11) (1) Details
- Nucleotide change
- A/T
- Variant Notes
- None
Effect on DNA/cDNA, transcript, protein (from publications)
- DNA/cDNA Change
- T>A at position 422 (1)
- Transcript Consequence
- Missense (1)
- Protein Consequence
- Amino Acid Substitution: Leu>Gln at position 65 (1)
- Flanking Sequence
-
CAGAACATCCCCCAAAGCCTGGGTCAGATAAGGGAGACCTCCAGAATATGCACTGTTGGCGTGCCGAAAAGAACAGGGCTGGGAAATGCTGACCTACACATTCCAGTTAATCAATAAAAATCGCTTTAAGAGCCCCGAGTGGAGTTAAAGGAAGCCAATCGGTATATTCACCTCCGGTGTAGAGAAACGAGCTGGACAGTCCTCCAAAATAAATGAGCGCCAGATGCTCCAGTTTGAGGCTGGACAGGAAGTAGAGCAGCGTGGCGCACAGACATCCTGCAGAGTACAGCACCGCTCCAAACATCACCACGTCCTGCGGCTTCAGGATCTGGTCCACCAGCGTGCGGTCGTCACTCTTCTTATGGTCGATTCCCTTGGAGAAGTCGTAGTAGGTGTTGACCAGGTTTCCGGCTCCGTGGACCAGCAGCACGGCCACCGCGCACACCAGCAGCAGCAGCAGGTCCACCGAGCCCTCCAGCTTGTAGGCCAGAGCGCTGCCC
A/T GAGCCACGGGCGTGAGAGACGCGCTGAAGCTCCACGGCCGCAGAGCCAGAACATACGCAGCACACTTACTCTGCAGATCCAGCGCCATGCGGCCCGCGCGGGACAGACGGCTGCAGGGGACACGCACCGACGATCCTGAAGCTCCATTCAGGCCATTGGAGCCCGAAAGCGCAGCCGGCTTCATCTCCTGCATCCAGGAGCGCTTCAGAGACCAGAGCTGCCGATCACAACACACACAGGCTTATTTTTGTGAACTGTGGGGACATTACATAGTTTTCAGGTCAATATTATTATAGCAATTGATCTGTTGCTGTGATTCTACAGTTGCTATGGTAACAACAACTATAGTAATTGATCTGTTGTGGTGATTCTACAGTTGCTATGGTAACAACAACTATAGTAATTGATCTGTTGTGGTGATTCTACAGTTGCTATGGTAACAACAACTATAGTAATTGATCTGTTGTGATTTTACAGTTGCTATGGTAACAGCAACTAAA - Additional Sequence
- None
Fish
| Fish | Genomic Feature Zygosity | Parental Zygosity | Affected Genomic Regions | Phenotype | Gene Expression |
|---|---|---|---|---|---|
| ubiad1s587a/s587a | Homozygous | ♀+/- ♂+/- | 2 figures  from Hegarty et al., 2013 | ||
| ubiad1s587a/s587a; s843Tg | Complex | 3 figures from Hegarty et al., 2013 | |||
| ubiad1s587a/s587a; s843Tg; sd2Tg | Complex | 3 figures from Hegarty et al., 2013 |
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Supplemental Information
- Genotyping protocol
- None
- Hegarty, J.M., Yang, H., and Chi, N.C. (2013) UBIAD1-mediated vitamin K2 synthesis is required for vascular endothelial cell survival and development. Development (Cambridge, England). 140(8):1713-1719
- Jin, S.W., Herzog, W., Santoro, M.M., Mitchell, T.S., Frantsve, J., Jungblut, B., Beis, D., Scott, I.C., D'Amico, L.A., Ober, E.A., Verkade, H., Field, H.A., Chi, N.C., Wehman, A.M., Baier, H., and Stainier, D.Y. (2007) A transgene-assisted genetic screen identifies essential regulators of vascular development in vertebrate embryos. Developmental Biology. 307(1):29-42
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