Busch Lab

ZMP

ATP6V1C2

Ensembl ID:
ENSDARG00000070440
Description:
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 [Source:HGNC Symbol;Acc:18264]
Human Orthologue:
ATP6V1C2
Human Description:
ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 [Source:HGNC Symbol;Acc:18264]
Mouse Orthologue:
Atp6v1c2
Mouse Description:
ATPase, H+ transporting, lysosomal V1 subunit C2 Gene [Source:MGI Symbol;Acc:MGI:1916025]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa36543 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa36542 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa36543
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
ENSDART00000103374 Essential Splice Site 190 380 6 12
Genomic Location (Zv9):
Chromosome 17 (position 52187610)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 51572265
GRCz11 17 51661300
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGTTTTGAACTCAGAGTACCTCACGACACTAATAGTTTTGGTGCCTAG[G/A]TCAGTGTGTGCAGAGCAAATCTTAAGTATCACTTATCTATTTTTTTTATT
Long Flanking Sequence:
CAAGATTTTGCCAATTTTGTATACATGTTCTCTTTCTCTTTGCATTTCTTTAAAAGAGCTTAATGACAATGATAACCAGTGAGCTGTGATGATCACAAAAACCTCATTAAATTTTTCTGCCAATAAGTTGGACTATTTATTGTAAATATACCATTAAAGGGGTCGATCTGATTCAGTTCATTTAACAAAAGTACATTTATTTAAAATCTTGGGTGGGACCACAGTTTTTCAGGCACAAGTGGACCTGTGAAGATCTCTTCTCTGAACCCTATCATGCTTGGTGTCTCAGAAGGAGTTGGTGGAAAGGCTTGAGATGGGTACTCCCCTTTCTCTTGCTTTCTCTTTGGACTGTGATATTCATTTAATGATCAATAACCATCCCTCCTGCTTTGCATAACTAGGGGAAGCTTGCAGAACCGTTTGTTGACCAACATCGTGAAGAAGGAGGACTTGGTTTTGAACTCAGAGTACCTCACGACACTAATAGTTTTGGTGCCTAG[G/A]TCAGTGTGTGCAGAGCAAATCTTAAGTATCACTTATCTATTTTTTTTATTTTTTTCTGAATGCATTTGTTATGTTTTCTCTACAGGACAGAATATGTGCTGTGGCAGAAGACGTATGAGTCCATGTCAAAGTTTGTGGTTCCTCGTTCCAGCCGGTAGGTTCCCATGCATGCTCAGGGTTTCCACAGTCACCTTAAAACATCATTTTTTTTGTTTAAATACTATTGATCAGTGGTTTTCAACTCGGCCGCGATGAATTGCAGGGGGTTTATTCTGTTATTAAAAGAACAAGGGTTTGAGTATCAACCCGCCACAAATAGCGGATTCATTTAAAAATTGCTGTAGACTACAGAAACGTGTTTGGTATTGTGGGATTAGTTAATAAGATCGGAAACCACTGCAATACAGAAAATTATTTGCAGCATTCATTTTCATTAAAGTCCATACTTAGGGTGCACTCACACTAGGCTATCCAAACCATGCCCGGGCACGTTTCCCACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36542
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000103374 Nonsense 349 380 11 12
Genomic Location (Zv9):
Chromosome 17 (position 52184295)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 51568950
GRCz11 17 51657985
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCAACTCTTTATTCAAACACCTCGACCCAGCAGCGATCAGCACCAAACCT[G/T]AGGTAAAAACAACACACAGATCCTTCTCAATGGTCGTGATCTAACAGTAT
Long Flanking Sequence:
ATACTCTTATGTATTTTTATCGTATTATTGCTTTAAAACGTGAATGAGAAATGCGCTGAAATATCACAGTAGCAGTTGACATAAATAATCTACTATTGGTGAATCCTATTGGTGATTTGTCTGGAAAAAATGCTATAATGTCGACAAAAAGACCATGTGCAACAATAAACATGTGGTGATTGTATTTCCCAACAGAGAACATTTGTGTGTTGGCTGAAGGTGAACTTCAGCGAAACCTTTGTGGCCTGGATTCACGTCAAGGTCCTTCGCACATTTGTTGAGTCAGTTCTCAGGTAAAATTAACCACTTGGCCTAAATAAAACAAAAAGTTGAACTGCTCAACATCAGACCCATTACAGTTGCTGTTGTTTAGGTATGGACTGCCGGTCAGTTTCCAGGCCATTTTGCTACAGCCCGGTAAAAAGAACGTGAAGCATCTGAAGCAGCAGCTCAACTCTTTATTCAAACACCTCGACCCAGCAGCGATCAGCACCAAACCT[G/T]AGGTAAAAACAACACACAGATCCTTCTCAATGGTCGTGATCTAACAGTATTTAATAAAGGACAGAGTATCCCTTAGATAAGACCTTTTCGGTCTTCATTTGAGGCCAAAAGGAAGTTTGAAAAGGCTGAGTGACGGTCTTCTGTTTGTGAATTTTCTGACACCCCCATGGTGCAGTGAGCTGGGTTGTTAATGTGTCACGTCACCCCATTGGACTTGATTGTAAATCAACAACAATGGCGGCGGTAAGAGAAGAACGGTTTCATATAAGGCAATTCTACAATAGAAGAGCCACCATTGCATGCCACATTACTGTAAATTTGCAGCAGACAGACACTGAATTGAGCAATGTTTATAAGCCTTATCAGATTTGGCACTATACATTTGTGTTTATCGTCCGGTTTGTGACGCTGAGTCTTTAAAATCTGTCTGTGAGCGATAGTACAGGTGAGGATACATCGAGACCAGCTCTTCTACTTGACTCTATCGTTTATTCATGCTT
Associated Phenotype:
Not determined