ZMP
vhl
Ensembl ID:
ZFIN ID:
Description:
von Hippel-Lindau disease tumor suppressor [Source:RefSeq peptide;Acc:NP_001074153]
Human Orthologue:
VHL
Human Description:
von Hippel-Lindau tumor suppressor [Source:HGNC Symbol;Acc:12687]
Mouse Orthologue:
Vhl
Mouse Description:
von Hippel-Lindau tumor suppressor Gene [Source:MGI Symbol;Acc:MGI:103223]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| hu2117 | Nonsense | Confirmed mutation in F2 line | Not yet available |
| sa40757 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
hu2117
Status:
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103878 | Nonsense | 23 | 175 | 1 | 3 |
Genomic Location (Zv9):
Chromosome 6 (position 40385613)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 40457213 |
| GRCz11 | 6 | 40454749 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGAGGGGCAGCAGCCGCTCCCGCTGGTCCGGTCTCTGATCAGCCGGATA[C/T]AGGTCAACGTTCTGTTCTGTAACTGCAGCCCGCGCGTCGTCAAGCCCGTC
Long Flanking Sequence:
TTACATTAAAAAAAAAACATACACACACATATAATTAAAAAAACAGCAAGTAGTAGTAGTCTCTCTCTCTCACACACACACAAACATACACACACGCGCGCGCGTTTTCAATACCAACCAAAGCACTAGAGGGAGCTGTTATCATTCTGTCTTCTTCACCGACTCTCACAAGATTACGCAATCAAAACAAACGCAGCCAGCAGCACGGACGTATGTGTGACAGTCACGTACACAGTCTTTCTCTCCGTTCGTGTTATTTTTCAGGTTAAATCAGATCATTGCTTCTTAAGGGCTTAGCGCATGTTCATTATAATTAAAAGAGAGCTTTAACATTTCTAGTTTGTGTATTTATGTTTTGTTGGGCTTTTTAAAAACGATTAACGTTGAAGCTTTAGTCTAACTCGGTGGAAGCAGGAACTGTCCTGTCTTTGACGATGCCCCAGGACTCTCAGGAGGGGCAGCAGCCGCTCCCGCTGGTCCGGTCTCTGATCAGCCGGATA[C/T]AGGTCAACGTTCTGTTCTGTAACTGCAGCCCGCGCGTCGTCAAGCCCGTCTGGATCAACTTCCTCGGAGAGCCGCAGCCGTACGTGAACATTCAGCCGTACACCGGACGAAGAATAACAACTTTTGTGGGTTCGTGAAATTATGCTGAATTATGTTGATTAATTAAATTGGTGAAATTGCTATCTACGCGTTTAACTCGTTCTTGAAATAGATAAAAACAAGTATTTTAAACAATACAACAAATAGCAATAAGGTAAATTTGGCTTTAAATTTATATTCAGACATTCATAATCAGTTTCAGAAAAGTATTATTTGCGAATTCTAAATCATATTAACAGTCAATGATTATCAAATAACAACATTGTTCCCAGTCAATTAAATGATGATTATGCTGTTTTGAAGTCATACTTATAATAAACAATATAACCAGTGTTGGGGTAATGGATACAAGTAACGCGAGTTATCTAATAATATTACTTTTCTAAGTAACGAGTAAAGCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40757
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000103878 | Essential Splice Site | 106 | 175 | 2 | 3 |
Genomic Location (Zv9):
Chromosome 6 (position 40383851)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 6 | 40455451 |
| GRCz11 | 6 | 40452987 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCATCTCTTGAAAATGGGCAAGTCGCAAATGCCAAGATCACATTGCCTG[G/T]TATGCATATTTCACTTCATATTTCAATCACACATCTTGTACTAATATTGA
Long Flanking Sequence:
AACCAGCAACCTTTTTGCTGTGAGGCGACAGCACTACCTACTGCGGCACCGCGTCACCCTGTAATGCATTACTTTTTAAATGTAACTTTACCCGACACTAATACAAACCGTTAATTGAACAAATGTTTAAATATAAAACCAACTTTACCTCCATACAAAAAGCATGTAGCTTGACTCATTTATCTCAGATTTGTGATTTAGTCTTAGAAGGAATCGCTTACTGTAATATGAACTCTGACTCCAAATGTGAGTTATTTAAACCTACTTTTCAGTTTAGTTTGTTTAGTGGCTTTAAAAATAAATAAAAGGTATTGTCATTGTGTGTTATCAACTATTTTGATGATATTTTATTGTGCTGTTTTTCCTGTTTCTGTCAGGACATCCATGGATGTTTCGGGATGCAGAAACTGATGATCCAATGGTAGTCAACAATAAAGAGATGTATTTGCCAGCATCTCTTGAAAATGGGCAAGTCGCAAATGCCAAGATCACATTGCCTG[G/T]TATGCATATTTCACTTCATATTTCAATCACACATCTTGTACTAATATTGAATTCACTGTGATAACTACAATTATAAGTGCTGCATTTAAAGGGTTAGCAACCTAAAAAAAACCCTAAGACCTTCATTCATTTTCGAAACACAAATTAAGATATGTTAGCTTAAACCTGAAGGAGCTCATTCGTATACAGCAACAGTGCTGTGATGTTCAAAGTTGAGAAAAGGAACCAAATCCATGTGACTTTAGTGATTCAATTATACAATTTTAATAATATAAAAGCACAAGAACATTTTTGTGTGCCAAAAAATGCCTTTAATAAATAAATATATATAGTTATAGTAATAATATACAACAAGGTTTAATGGAAAGACAATATTGATCTGTGTGTAACAAGATAAAACAAAGAATCTAGTATATATAGTCTTTTGGAGCATCGAAAAAAATTGTTGGAACATTTTTCATGTCTGTACTTATGAGTGTTCTGCAGTGTTGTAATTCGGT
Associated Phenotype:
Not determined