Busch Lab

ZMP

sox5

Ensembl ID:
ENSDARG00000011582
ZFIN ID:
ZDB-GENE-000607-13
Description:
transcription factor SOX-5 [Source:RefSeq peptide;Acc:NP_001028757]
Human Orthologue:
SOX5
Human Description:
SRY (sex determining region Y)-box 5 [Source:HGNC Symbol;Acc:11201]
Mouse Orthologue:
Sox5
Mouse Description:
SRY-box containing gene 5 Gene [Source:MGI Symbol;Acc:MGI:98367]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa33440 Nonsense Mutation detected in F1 DNA Not yet available
sa18782 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa33439 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa33440
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
ENSDART00000006737 Nonsense 223 759 5 15
ENSDART00000134595 Nonsense 221 757 5 15
Genomic Location (Zv9):
Chromosome 4 (position 16085611)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 17028451
GRCz11 4 17017427
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGAGAGCAGTTACTGGCTGCCCACGAGGAGCAGAAGAAACTGGCTGCTT[C/A]ACAGATTGAAAAACAACGCCAGCAAATGGAGTTAGCAAAACAGCAACAGG
Long Flanking Sequence:
CAGATATATGACCTCAGACACACAATTGCACACACATGAACTCATTAACAGACGTGCTCATTTGGACATTTGAACGCTTTAGGGGTTTAGTGCACTCAAACACACACACAATTTTTGATTGGTGGTAGTCTGGGGTAATACCGCAGTGCGACTACATCCTGTTGAGTGATTTAGTCTTCCCCTCCTGCCGTCTGCTCTGGGGCTGCTCGTATGTCAGAGCGTTCTCAGCTTTAGTTCGAGGTCGGAGGTCAGCTCATGCTAAATGTGTAGCGAAGGCTAGGTAAACATCAGGGTGATAGCACATCTCGGGAGGAGCACATCTGGGCACAATGCTTCCTGGACTAGCTCTTTGACCTGTGGCCTGTGTCCTTTAACCCTTGCAGGCACCCCGGACAGTCTGGCGGAGAAAGAGCGGCAGTTGATGGGGATGATCACGCAGCTCAGCAGTCTCCGAGAGCAGTTACTGGCTGCCCACGAGGAGCAGAAGAAACTGGCTGCTT[C/A]ACAGATTGAAAAACAACGCCAGCAAATGGAGTTAGCAAAACAGCAACAGGACCAGGTCAGCAAATATTTACAATGTTCGTCATGCGCATGTCTCACTAGTTATATTCAGTTTTATCCAAACTTTTTCAAATGAAGCCAAATAACAATGACCAGAGGGCAATGTAGGCTGATTGTAAATATGCAATATAGGCATTAACCAAGCACAATGCAATAAAACACAAGGCTTGGTGAGTAATGTAGTCTCAATGGTCAAAAATTATTACCAACAATTGTTTTCTGATAGGTATGTAAGTACGTGTTCTGTAAGTATGCCACTTAGCAATGCATTTTACTGCTAAAAGAACAGAAAGAAAATTGATCTGAAACTTGTCTTAAAAGTAGCAGACATTTTTAAAATTGACCCCTGTGGTATGTCAGATTACAGAACACATACCAAAGTTGTCTGTGCATGTAATGCTGGTATTTAAAACATTACGGGGACCTTAAACATTATTATTATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18782
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000006737 Essential Splice Site 443 759 11 15
ENSDART00000134595 Essential Splice Site 441 757 11 15
Genomic Location (Zv9):
Chromosome 4 (position 16059924)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 17002764
GRCz11 4 16991740
KASP Assay ID:
2259-4783.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTTGTTCCTTATTGAAAGTTGTGTCTTATTCATACATGTCAATTCTTTC[A/G]GACCTGTTATCATCCATCACCTCTGCCGGCTACCTGAATGACCATGAGGC
Long Flanking Sequence:
ACGGCAGATCCTTGATGAACAGTCTGACATGCACAGCTCTTATCGCTGCAGTGCATGCCAGAGTGTGTGTGGTCACGTGATATGCGTTTTTCGCAGGCTAGTATGGACAGAGAGTTGTTCAGAGACGCTAGGTGAAATGCCAGTGTGGACCAAATCGTTTTTACTCTAAAACACTGTTGCGACGTGTAGTTACATTTTTTGAGAGGTGCGCATCAGCGACGCTGACGGCCCTGGCGAGGGCTATGCGTTCACGCGTAGGCAGCGCCGTAGCATACGAGTGCGCTTGAGGCAGAAGTATAAATCAGCCTTAAGTCCCAAAACTGATATCAAAAATGTATTTTTTGTTTTTGAAGTGCGCTAAAGGCATTACTGATAGATGAAGGAACTATTTGTAAAGGACTGCTTGAGATCTAAAAACTTTCATATTTTCCTGCTTGTTGTCTAGTCAAATGTTGTTCCTTATTGAAAGTTGTGTCTTATTCATACATGTCAATTCTTTC[A/G]GACCTGTTATCATCCATCACCTCTGCCGGCTACCTGAATGACCATGAGGCCGTGACCAAAGCTTTCCAGGAGGCCCGAAAGATGAAAGAACAGCTAAAGAGAGAGGAGCAGGTTCTGGACGCCAAAGTAGCAGCAGTCAACAGCTTGAGCCTCAACAACGGACGCTCAGAGAAGGTTCGATTCATGGTGATCTTGCATTAACAGATTCACTCTCTGTTTTAAGTGAATGAAAGTAATCAGCAGATACTAACTTGCTTATCACCAAAAAATATAGCAAATGAAAATTAAAACAGTCGACAAACAGACCTGTTAATTACAACAGAATGCATTAGTCTCTCAACAAAGTGATTTCCCAAAGCTCTTCTTGTAAAGTGGAGGAATGGAGGTGACTAAGATCTGAAAGCTCTATTGTTGTACACGATGGTCATGTCTAAGAGGCAGGCTCAGGGCAGGCAGGGTGCAGTGAACGAAACGCTAATTTTAATGGCGTAGCTGATGTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33439
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000006737 Essential Splice Site 592 759 13 15
ENSDART00000134595 Essential Splice Site 590 757 13 15
Genomic Location (Zv9):
Chromosome 4 (position 16056234)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 16999074
GRCz11 4 16988050
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTTCAGGCCTTCCCTGACATGCATAACTCAAATATCAGCAAGATCCTCG[G/A]TGAGAATCAGGGCTAGTAAATCTCTTCAGCTCCTTATCTAACCACTACAG
Long Flanking Sequence:
TTCCCCCATGACCCTTTATATCGAAGTTGATATTTAGCCGCACCAGTTTTTATGAGGTGAGTTGTTAGCACAATGTTCAACCGCCAAACCTAGTCACTTACATTCTCACAATTACTACAAGCTCACCTGACCTGTATTTGAGATATGCATTTAAACTGGAAATCGACTTTGAATCTTGCTCTATTTATTATTAAGTGCCTATTTTCATGATCCAAGTTGATCTTAATGGATAAATGAAGCTGAGCCCTACATTTATTTTATGTTTAGTGTATGTACAATCACATTTGTCTTCGCACAAACAGTAACTCTTGGCATTTGCTCTCCAGGAAGCCCAAGTGTGTCGGACTCGCGGATCTTCCGAGAGGCTCGAGGGCGTGGCAGCAGTGAACCACACATCAAGCGACCCATGAATGCCTTTATGGTCTGGGCTAAAGACGAGAGGAGAAAAATCCTTCAGGCCTTCCCTGACATGCATAACTCAAATATCAGCAAGATCCTCG[G/A]TGAGAATCAGGGCTAGTAAATCTCTTCAGCTCCTTATCTAACCACTACAGGTTTATTCGCTCTGTCTCTTATTTCTATTTGTACATTTTGGAGCTATTTGATAGATTTATTTCCTATCCAACTTTGATTCACCACACACAGTCATTCCCTGATTTGTGAGTACATAAAAGTGGGTGTGGCTTGAAGACTGGCTCCTTTGGGAAGAGCTATCCAGCCAGGCACAGAGAATCCCCTCTGTTCTTCATCCTCAGTGCACACACACAACCCTCTCCCGCACTGCATTGTGTAACCACCGCCTAATGAATCGCTCTAGAGGGCCGACTCCAACAATGATGATATAATTCATTATGCATTAAACCAGCTCTCCAGTCTGTCTGACATTTTCTCCAGACCTCTGGGATTGTGTTTGACATTTTAAAGAGCTCCTAAGCGTTTTATAACGGCGGAAAATCTGGTTTTAATAAGGCCCCGCTCTCTCAATTGTTAACAGAAGGAGTTTC
Associated Phenotype:
Not determined