Busch Lab

ZMP

sox19a

Ensembl ID:
ENSDARG00000010770
ZFIN ID:
ZDB-GENE-980526-102
Description:
Transcription factor Sox-19a [Source:UniProtKB/Swiss-Prot;Acc:P47792]
Human Orthologues:
SOX1, SOX2, SOX3
Human Descriptions:
SRY (sex determining region Y)-box 1 [Source:HGNC Symbol;Acc:11189]
SRY (sex determining region Y)-box 2 [Source:HGNC Symbol;Acc:11195]
SRY (sex determining region Y)-box 3 [Source:HGNC Symbol;Acc:11199]
Mouse Orthologues:
Sox2, Sox3
Mouse Descriptions:
SRY-box containing gene 2 Gene [Source:MGI Symbol;Acc:MGI:98364]
SRY-box containing gene 3 Gene [Source:MGI Symbol;Acc:MGI:98365]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa7562 Missense Mutation detected in F1 DNA Not yet available
sa6054 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa7562
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013309 Missense 7 314 1 9
ENSDART00000114113 Missense 7 297 1 2

The following transcripts of ENSDARG00000010770 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 25870094)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 23697359
GRCz11 5 24201159
KASP Assay ID:
554-4063.1 (used for ordering genotyping assays)
KASP Sequence:
TCCGGTATCACCACTWACTTCWGTTGGCAGCCATGTACAGCATGCTGGAG[C/T]ACGACATGAAGTCCGCCGTGCCACCGACGCACCAGAGCGCGCAGGGAATG
Long Flanking Sequence:
TGGCGAAATAACTCCAATAAAGTGGCTACTGTAAAACAAAGCGTTATATTGTAAAGTCCGTTTAAAGAGTTGCAGGTGACGACAGAAACTCTTCTCCCCAAAACCGAGTCCTCCTCCTGCTCTTGGCCTCTCCACATTCACCGCACCCCTTCTTTAGTGATGCTAATATGCAGAGAAAGAAAGCAGCTGGAGGCGGACAGTGATGAAATTCTATTATCACTCAACCACTGAAAGAGTCGCAGGCAGGACGCACAGCGAGCTCAACTCGGACCTCTTTCGCTTTTAGGTAAACTAACGTCACTTCAGAACTTGTTGCTTGTGTTCAGGCGTTTACAAGCACCTCTGCTTTTAGTTACAGACGGCTCGCTCTCGTTTTGGACGCACGTGTTCGCGAAACGTTTAGCGTCAGTGGATTTGATTTTAAGCTCTTTTCTAGTTTTACGGTGATACTCCGGTATCACCACTAACTTCTGTTGGCAGCCATGTACAGCATGCTGGAG[C/T]ACGACATGAAGTCCGCCGTGCCACCGACGCACCAGAGCGCGCAGGGAATGACCCAGCTGAACGGTGGAGTGACCCACGGATCCGCCAAACCGGCTGTCAACAGCCAACAACAGCAGAGTAGCGATCCTATGGACAAAGTTAAGAGGCCCATGAACGCATTTATGGTGTGGTCTCGGGGTCAGAGGCGCAAAATGGCACAGGAGAACCCCAAAATGCACAACTCTGAAATCAGCAAGCGCCTGGGCGCCGAGTGGAAGCTGTTGACGGACGCGGAGAAACGACCCTTTATTGATGAAGCCAAGCGGCTTCGCGCGCTGCACATGAAGGAGTACCCAGATTACAAATACAAACCCCGTCGTAAGACGAAGCCCGTGCTGAAAAAGGACAACCCGGCTGCTAAGTATCCTCTGTCAGCCGGTAACTTACTGGCGGCTGCCGCGGCTCAGGGGTCAGGTGGAAGCCCGAGGATGGACAGCTACGGCTGGGGTCACACCGGTGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6054
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013309 Nonsense 115 314 3 9
ENSDART00000114113 Nonsense 117 297 1 2

The following transcripts of ENSDARG00000010770 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 5 (position 25869762)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 23697027
GRCz11 5 24200827
KASP Assay ID:
554-3736.1 (used for ordering genotyping assays)
KASP Sequence:
CCCTTTATTGATGAAGCCAAGCGGCTTCGCGCGCTGCACATGAAGGAGTA[C/A]CCAGATTACAAATACAAACCCCGTCGTAAGACGAAGCCCGTGCTGAAAAA
Long Flanking Sequence:
ACAAGCACCTCTGCTTTTAGTTACAGACGGCTCGCTCTCGTTTTGGACGCACGTGTTCGCGAAACGTTTAGCGTCAGTGGATTTGATTTTAAGCTCTTTTCTAGTTTTACGGTGATACTCCGGTATCACCACTAACTTCTGTTGGCAGCCATGTACAGCATGCTGGAGCACGACATGAAGTCCGCCGTGCCACCGACGCACCAGAGCGCGCAGGGAATGACCCAGCTGAACGGTGGAGTGACCCACGGATCCGCCAAACCGGCTGTCAACAGCCAACAACAGCAGAGTAGCGATCCTATGGACAAAGTTAAGAGGCCCATGAACGCATTTATGGTGTGGTCTCGGGGTCAGAGGCGCAAAATGGCACAGGAGAACCCCAAAATGCACAACTCTGAAATCAGCAAGCGCCTGGGCGCCGAGTGGAAGCTGTTGACGGACGCGGAGAAACGACCCTTTATTGATGAAGCCAAGCGGCTTCGCGCGCTGCACATGAAGGAGTA[C/A]CCAGATTACAAATACAAACCCCGTCGTAAGACGAAGCCCGTGCTGAAAAAGGACAACCCGGCTGCTAAGTATCCTCTGTCAGCCGGTAACTTACTGGCGGCTGCCGCGGCTCAGGGGTCAGGTGGAAGCCCGAGGATGGACAGCTACGGCTGGGGTCACACCGGTGGTTACCCTGGCATGCAGACCGATGCGCTGGGTTACAGTCAGCAGCTGCACCGCTACGATCTGTCCGCCCTGCAGTATCCATCCGCCATGGCCACCGCACAGACCTACATGAATGGTGCCAACTCCTACAAGTAAGTTTACAATTGCTCTCGCGTGCTTTGTAATAACATAATAATCAATAAATAACTTTACTAATAGTTTTTTCTTGGTTACTTGCAGCCCCATGTCCTATAGCAGCACTCCACAGCAGCCCAGCCCAGTCATGTCCATGGTGAAACCAGAGCAGGTGTCTCATTCTCCCACTGGAGCCCACAGCCACCAGCGGGGTCCTTTAC
Associated Phenotype:
Not determined