ZMP
ENSDARG00000071165
Ensembl ID:
Human Orthologue:
VCL
Human Description:
vinculin [Source:HGNC Symbol;Acc:12665]
Mouse Orthologues:
Gm14025, Vcl
Mouse Descriptions:
predicted gene 14025 Gene [Source:MGI Symbol;Acc:MGI:3649276]
vinculin Gene [Source:MGI Symbol;Acc:MGI:98927]
vinculin Gene [Source:MGI Symbol;Acc:MGI:98927]
Alleles
There are 3 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa42301 | Nonsense | Mutation detected in F1 DNA | Not yet available |
sa35590 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
sa22380 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa42301
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000105018 | Nonsense | 346 | 652 | 1 | 7 |
Genomic Location (Zv9):
Chromosome 13 (position 48828668)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 47560069 |
GRCz11 | 13 | 47851309 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGAGTTCAAGTGAAGCTTTGGAAAAACTAAAAGAAGTCCATCAGAGATG[G/A]TCAGAGGAGATAGAGCAACTTTTGCATGCTTGTGGCAGCATAATAAACAT
Long Flanking Sequence:
AGGGATATTCAGTTTGAGGTTGCTGCACACACCAAACAAGTCCTTCAGGTCTGGTCTGAGATGTCACAACAAATGAAAAGCTATGATGACCAACAGCTAGCAAACACATGTGCTTCCCTATTGAAGCAAATCCATAAACTTGATGAAGCCGTGGCAAAGGCAACACAGTTGCAAGTAATGGACATATTTGTCAGCAGTTCAACTCCTGTTGAAGAGTTAATACACACTTTGAGCATCCAGGATAAGCAAGATGAGCTTGATGTGGAGGCACTTCAGGTGCAGTTTGGATCTTTTACAGCTCATGCTGACAAGATTTCAGAGGTGGCTAGCTTCATCTCAGCTTTAGCATGTGATGAAAAGAGTCTTGAGGCTCTAGAGAACTCGAGGGGATGCATAATGAGACTGAGACAAGCAATTGCAACGCTCGTGCAAAATCTTGAAGAAGGCAAGCTGAGTTCAAGTGAAGCTTTGGAAAAACTAAAAGAAGTCCATCAGAGATG[G/A]TCAGAGGAGATAGAGCAACTTTTGCATGCTTGTGGCAGCATAATAAACATAAAAGATTTTGTCTACCTTGCACTGCAGGAGATGGAGAGCAACTGGATAGGGTGCATTGAGGCATATAAAAATGAGAATGGGCAGATTCTCAAAAAACAGGCAAACTTGCTAATTAGTCACATGAGCTTGGTAATCCAGCTTATTAGAAGACACGTCAGTATAAGTGACAATCCAATCTACCGAAATGGACTCCTGGTTCTGATAAAGCAAGCAGAAGGATCTGCTGCCGAGGTGACATGTTGTGTCACTGATATCTATTCTAATACCAGACTTAGCAGTGAGGCTTTCTCGATGCTCTCTACTAGTGTCTCAACAGCCTTTAAACACTTTGACATTCTACGTGAGGGACTGGATGGTTTGCAGCATCCACATTTGCTTAGCCCACTCCGGGAAGGAGCCCGCCAATCTGCTAGTCCTGCACCATATGCTATCCCCATTTCAGAAAACGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa35590
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000105018 | Essential Splice Site | 513 | 652 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 13 (position 48826793)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 47558194 |
GRCz11 | 13 | 47849434 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAAGACTGTTTCAACTTCATTCGAGACCCAAAGGAGAGGTCCAATCTGAG[G/A]TTTATTAATGACCACCTGACTTTTCAAATGTCAGACATTGTGAGTAGAGC
Long Flanking Sequence:
ACATTCGCTCATCAAATGACACCAAAGAAATGGTTGGCAGTAATCTCTGAGAACTCCCTTCGTATACAAGAAGCTGCAAGACTGTCTTGTTTGAACTGTCGAGACAGCTATAAAGTAAAACTGCTAGGAGAACTACAGGAAGACGTAAAGACACTTACAGATTCATATTTACAGGCTGCTGAAGAGGTTGGTACGGTGTCCATCTCAAGTGTCCTGATTCTGGCAAAGTCAGAGCTGCTTCAGAGACAACTTCAGGTTAAAATGAAAGCACTGTCTTGCCTCTTGAGTAAAGTTAACCAAGATTATGGAAAAGCTATTCGAAACACCATTACTTTGGCATGTTCTGTACAAGCAAAATACAGTGACATGGAAGCTGAAAATACTCTGGCACAGTTCGAAAGTGCTGCAGAATTGCTTATGCAGAATGTAAAGAGTGCCACAGAGTCCATCGAAGACTGTTTCAACTTCATTCGAGACCCAAAGGAGAGGTCCAATCTGAG[G/A]TTTATTAATGACCACCTGACTTTTCAAATGTCAGACATTGTGAGTAGAGCCAGATTAATAGCAGAGACACAAACTCTTGGAGATACTCTCACTCTTGATATTCAGTCACAGTGTTGGTCCAGCAAGGCGCATTACCTTGTTGAAGAAATCTGCAAAGTCGATGGTATTCTTGAAGTCACAAAAGAACAGATCAAGTTTTGCTTGCAGGGCAAAGAGTTTGGTGGATTTGTCATGTCCCGACCACCAGCAAGTTTCACACAAAAGAAACCACTACGTCCTATATCCATAAGTAATCAAGAACCCACTAAAAGTAAACCAAGTGTCCAAGACGTGTCCAATCAGGAACCAAACAAGGTAAATTTGTCGATGCTAACAATTATGTAGGTCATTTTAGATTAGGTAATGTCACCGAAAACAGTCATTACGCTCTCAAAAATCAAAAAGACTAAAGCCAGATGAAGTGATATTAGCAATTTACTCAAATAAAGGCAAATGTTTTG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa22380
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000105018 | Essential Splice Site | 513 | 652 | 4 | 7 |
Genomic Location (Zv9):
Chromosome 13 (position 48826792)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 13 | 47558193 |
GRCz11 | 13 | 47849433 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAGACTGTTTCAACTTCATTCGAGACCCAAAGGAGAGGTCCAATCTGAGG[T/C]TTATTAATGACCACCTGACTTTTCAAATGTCAGACATTGTGAGTAGAGCC
Long Flanking Sequence:
CATTCGCTCATCAAATGACACCAAAGAAATGGTTGGCAGTAATCTCTGAGAACTCCCTTCGTATACAAGAAGCTGCAAGACTGTCTTGTTTGAACTGTCGAGACAGCTATAAAGTAAAACTGCTAGGAGAACTACAGGAAGACGTAAAGACACTTACAGATTCATATTTACAGGCTGCTGAAGAGGTTGGTACGGTGTCCATCTCAAGTGTCCTGATTCTGGCAAAGTCAGAGCTGCTTCAGAGACAACTTCAGGTTAAAATGAAAGCACTGTCTTGCCTCTTGAGTAAAGTTAACCAAGATTATGGAAAAGCTATTCGAAACACCATTACTTTGGCATGTTCTGTACAAGCAAAATACAGTGACATGGAAGCTGAAAATACTCTGGCACAGTTCGAAAGTGCTGCAGAATTGCTTATGCAGAATGTAAAGAGTGCCACAGAGTCCATCGAAGACTGTTTCAACTTCATTCGAGACCCAAAGGAGAGGTCCAATCTGAGG[T/C]TTATTAATGACCACCTGACTTTTCAAATGTCAGACATTGTGAGTAGAGCCAGATTAATAGCAGAGACACAAACTCTTGGAGATACTCTCACTCTTGATATTCAGTCACAGTGTTGGTCCAGCAAGGCGCATTACCTTGTTGAAGAAATCTGCAAAGTCGATGGTATTCTTGAAGTCACAAAAGAACAGATCAAGTTTTGCTTGCAGGGCAAAGAGTTTGGTGGATTTGTCATGTCCCGACCACCAGCAAGTTTCACACAAAAGAAACCACTACGTCCTATATCCATAAGTAATCAAGAACCCACTAAAAGTAAACCAAGTGTCCAAGACGTGTCCAATCAGGAACCAAACAAGGTAAATTTGTCGATGCTAACAATTATGTAGGTCATTTTAGATTAGGTAATGTCACCGAAAACAGTCATTACGCTCTCAAAAATCAAAAAGACTAAAGCCAGATGAAGTGATATTAGCAATTTACTCAAATAAAGGCAAATGTTTTGA
Associated Phenotype:
Not determined