Busch Lab

ZMP

atp6v1a

Ensembl ID:
ENSDARG00000076318
ZFIN ID:
ZDB-GENE-030131-9529
Human Orthologue:
ATP6V1A
Human Description:
ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A [Source:HGNC Symbol;Acc:851]
Mouse Orthologue:
Atp6v1a
Mouse Description:
ATPase, H+ transporting, lysosomal V1 subunit A Gene [Source:MGI Symbol;Acc:MGI:1201780]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa24491 Essential Splice Site Available for shipment Available now

Mutation Details

This allele has been removed from public view.

Allele Name:
sa30088
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114661 Nonsense 17 617 1 14
Genomic Location (Zv9):
Chromosome 24 (position 21779031)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 21026160
GRCz11 24 21170579
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AAATGGACTTCTCCAAGTTGGCCAAAATCCGAGATGAGGAGCGGGAGGGA[C/T]AATTTGGATATGTGCATGGTGTATCTGGACCTGGTTAGTACAAATAAAAA
Long Flanking Sequence:
TAGTTAGTTGTCTGTTAACTATAAATGATTTGATCAATTTTAATTTAAATTCGGGACTACAAAATATAATGTTATCCACATTTACTCAACAGTTTTTCCTACTTCCTCACCATGATTTCTTTTTTTACAGTCAGTCAGTGTCATGTGCTGCTGGTCATGTGACTGAGTTTCATGTTAGACTTGTATGGAATGCTTTATAATATAAATTGGCTGTTAAACATTTGGTTTCCTTTTGCATTTTATATGACTTAACGTGTAACAGAAAATGTAACAGAAACATAATTTTAAATTATAGCTATGTTTATACCACTATATAGGAATAGGGATAAATACAACAACCACGTGGAGCTTATAGGTCTAGGAAGTGTAATATTAGGTACAGAAAGTAATCCAAATAATCATCTGCTTTATCTTTCCACGTTTTGTATAATTTCATATCAGACACATTAAAAATGGACTTCTCCAAGTTGGCCAAAATCCGAGATGAGGAGCGGGAGGGA[C/T]AATTTGGATATGTGCATGGTGTATCTGGACCTGGTTAGTACAAATAAAAATGTCATAATATTTGATTTTAATTAATAGGTTACCATGAGTTTTTTTTTTTTACATTTTTTTTTCATTTTATGTTTTTAATATTTAAAGCTTTTAATTTTATTTTTCTCTATTGTTTCCTTTTTTATTTCCTCTTTTTTTTTTGTTAATATGTGACCAAAGCTGTTAATTATTTTTTGTTAATTTTATTTTTTTTCCTAAAGATTTAATTTAATTAATGTGACCATACTTTTTCCTTGTTAGGTTTTTATTAAGTATACCCGAATCTTTGCATTTTATTCTATATTATTGTTTAATTTTGTTGGGATATTATGTTGATAGGGTGTCTATTTTTATATAGTAGAGTTTTTTGTTTTGTTTTTAAATTTTTGTTTATTTTTCTCTTTTTAATAATTTTTTAATGTCACCAGATTTAATGATTTGTTTATTTTTAATTTTAGTTTTGTTGGATT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24491
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114661 Essential Splice Site 239 617 6 14
Genomic Location (Zv9):
Chromosome 24 (position 21772531)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 21019660
GRCz11 24 21164079
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACATCTGATACTTCTACAGCTATTTTATGTTTTATTTTTTGTTTCACCA[G/A]ATGTGTGCAAGGAGGAACCACAGCAATCCCCGGTGCTTTCGGATGTGGTA
Long Flanking Sequence:
ATTTTAATTTAGTTTAACAACAAAACATAAGTAAATAGCGCCTAGCCTGCTTTACTGAGCTAAAGTTGTTTTTATATTCACATCACATTGGTTCATTTTTGAACAATGACAACCTGTGACACGCTCCCTATATTGTTTAACATGCTACTTTGAATATTCGGTTTGAAATAGCATGTAAATATGGCCTAGTAATAAATGTAATTCCTGCATACTGCCGGCCAAGCACTAAGCAGAGTCGCTATAGAACAGCACGTGAGAGAAAGTTGTCTGTCATTTTTAAGGTGTGCATGCTCGTGTTTCAAGTGGCGTGGATTTAGATGGCAGGGAAGGGACTGTGCTTCAAAGATATTATGGTAACCGGTTAGCATTGTGGGAGATCACCCACTGCATCTTTAATGCATTGTTTCTAAATAAGCCATTAAAAAAAACTAACCTTTAAACAGTTCTGTAAACATCTGATACTTCTACAGCTATTTTATGTTTTATTTTTTGTTTCACCA[G/A]ATGTGTGCAAGGAGGAACCACAGCAATCCCCGGTGCTTTCGGATGTGGTAAAACCGTGATTTCTCAGTCTCTGTCTAAGTACTCTAACAGTGATGTCATCATCTATGTGGGCTGTGGAGAACGAGGAAATGAAATGTCTGAAGTACTTCGAGATTTTCCTGAGGTGGGTATGGTAGCTTCAGTTATCATTAAACCAGCAACTCAAACTGTGATTGGTGCTGGAGTGATTGACAGTTCTTATTGCCCTATAGCTGACCATGGAAGTGGGAGGTAAGGTGGAGAGCATCATGAAGAGAACAGCTTTGGTTGCAAACACATCCAACATGCCTGTGGCTGCCAGAGAAGCTTCTATTTACACAGGTTTGTTGAAGATCTCATAAATTATAGGTCAAATGTTTGAGATCAGATTTAAGATTTAAAGGGATAATTTACCAAAAACATACAAATTTACTCAATATTTACTATCGCCCAAGTGGTTCCAAACCTGTATGAACACAAAA
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa30087
Status:
Less stringent filtering
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114661 Nonsense 522 617 12 14
Genomic Location (Zv9):
Chromosome 24 (position 21766375)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 21013504
GRCz11 24 21157923
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATAAGATCACCCTGGAAGTTGCCAAGCTGATCAAGGATGATTTCTTGCAA[C/T]AAAATGGATACACACCGTATGACAGGTATTGCACATGTGCTGCATAAGCT
Long Flanking Sequence:
ACTGGGAGAAAAGAAAAATGACTCTTGCATCTTGACGCATGCACAGACATCTATTGGCTAGAAACAGTAATACACATTTCCGTAATCTAGGAGAATTATGACCTAAATGAAATGCAACACATATGTGTCTGGATTTAAAATAACATGGTAAATATACACACTTATTTTTTAACATAATAACATATATTACTTATTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATAATTTATGCAAACAATAGACACATACTGGAAAGTTTTTCTTACCATTAGATGAAAAATCTCAAAATTGACATATTTTTGCCTGCAGTTTCTCACCTTATATGGTTATTCTAAAGTAGTAAAATATGTTTTGAATATTAATTTAAAGGCTTCATTGGCTGAAACGGATAAGATCACCCTGGAAGTTGCCAAGCTGATCAAGGATGATTTCTTGCAA[C/T]AAAATGGATACACACCGTATGACAGGTATTGCACATGTGCTGCATAAGCTGCTGATCATTCACTTATTTGTTCAATAAGACTGAAACATTTCTTTTCATTTTCAGGTTCTGTCCTTTCTATAAGACGGTTGGTGTCTTGTCCAACATGATTGCATTTTATGATATGGCTCGTCATGCCGTAGAGACCACGGCACAGAGCGACAATAAGATCACCTGGGCCATGATCAGAGAGCACATGGGAGAAATCCTCTACAGGATCAGCTCCATGAAGTTTAAGGTACAGGACATAAACACTGATTGCTTTTAAGTTTTCTGTAATTAAAATCAACCCTGCATTTATTCTAAGCAAAATGTCATTTCCACTTAGTTTATTATAACTTTCATTATCTTGTCAATATATATTAAAGTATTTACATTATGTATGTTACTTCATTGATGAAGTTTGATGTAGTTTGCAGTTACGTGATGTTTTGTGAGGATATGATTATTCCTGTGAAATC
Associated Phenotype:
Not determined