Busch Lab

ZMP

atp6v1ba

Ensembl ID:
ENSDARG00000013443
ZFIN ID:
ZDB-GENE-030711-3
Description:
V-type proton ATPase subunit B, kidney isoform [Source:RefSeq peptide;Acc:NP_878298]
Human Orthologue:
ATP6V1B2
Human Description:
ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2 [Source:HGNC Symbol;Acc:854]
Mouse Orthologue:
Atp6v1b2
Mouse Description:
ATPase, H+ transporting, lysosomal V1 subunit B2 Gene [Source:MGI Symbol;Acc:MGI:109618]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa23052 Nonsense Available for shipment Available now
sa36389 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa23052
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000007021 Nonsense 205 506 7 14
Genomic Location (Zv9):
Chromosome 17 (position 21218512)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 21368661
GRCz11 17 21388497
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCTTTGATCATTAGATTGCAGCCCAGATTTGTCGTCAGGCTGGTTTGGTG[C/T]AGAAATCCAAAGATGTGACTGACTACAGTTCAGAAAACTTTGCCATCGTC
Long Flanking Sequence:
ACATGTTTTAAAAATGATTAAAAGTCTTATCGTACACAAACATTGAAACGATGTTATTCTATAACATATGTTTCCACACTAGCAAGGTTTAAGCAGATTTTAAAAACTCATCTTTTTAAGACTTCACTTTTAGATTATGGAGCATCCTAATGTGTCTATATTTTATCATTTTTCTGTGTTGAATTTTTGTATTTTATTACATGTTTGATTTCTCTGTTGTTGTTGTGCCTTGGGTTTTAAAAAAGCGCATTATAAATAAAATGTATTATTATTAATATTAATATTATTATTATTGTACCTATTTTACTGGGTAAAAATTTTAATTCTAATTGTGACTCAACTTGTTCAGTAGAGTTGGCATAGGTTTGCTAAACTTTAAAATGCATTATATCCATTAAAAAAAATTTATTAATGAAGATACACCTTTAACCCTTTTTTGCTTCTGTGTTTCCTTTGATCATTAGATTGCAGCCCAGATTTGTCGTCAGGCTGGTTTGGTG[C/T]AGAAATCCAAAGATGTGACTGACTACAGTTCAGAAAACTTTGCCATCGTCTTTGCTGCTATGGGAGTGAGTGATTTTTCAAAGTTTTTCTTGTGAAACTGTTTCCAATATTTTTTGCTAGTACTTTGGTTTAAGTACTATATCTCACTATTAACTAGTGGCGTATTTGCTGCCTGTTATTAAGATATTAGCTGTTAATTTGTACTTATAAAGTACATAATTGTACTTATACATTACATATACAGTACCTAAAACAAACAGAAAATTGTGCAGATAATTAAACATTTTGATAGTTAATGATTTGTTAATAGCCAGAATTGTACCTTAAAATAAACTTTCTTTTCATTTTCCTTTTCTTTTCTTTCCGTTTCTTTTTCCTTTTTCTTTTTTTTTCTTTTTCTTCTTTCATTTTTCTCTTTTTCTCATCCTTTTTTCTTCTTTTCTTTTCTTCTTTTCTTTTTTTCTTTCCTTTACTTTTCCTTACCTTTTTCTCAATTGCTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36389
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
ENSDART00000007021 Essential Splice Site 259 506 9 14
Genomic Location (Zv9):
Chromosome 17 (position 21216876)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 21367025
GRCz11 17 21386861
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GATGGACGGTCTCATTTTGTGTAACATACCGACTGTATCTTTTTTGTTTA[G/A]CATTGAGCGCATCATCACCCCGCGTCTGGCACTGACCACAGCAGAGTATC
Long Flanking Sequence:
GGGAAACGGGAAGTAAAGGACTTAGTCTGTTCAGAGTTTCTCATGGTTGTTTGTTTGAATTACAGGTCAACATGGAGACAGCACGTTTCTTCAAGTCAGACTTTGAGGAAAACGGTTCCATGGACAATGTGTGCTTGTTTCTGAACCTGGCCAACGATCCTACGTGAGATTTTGATTAGATGACCTTCATCATCTTATGTTAAAAGAAAAATGTACTCAACCTCAAAGTGATTCCAAACCTTTAAGAATGTCTTTTCTCTATTGAGCATAAAAAGAAGTTATTTTGAAGAATGTTGTAAACCATTAACCATTCTATAGTATGGAAGCAGCAAATACTATGGAAGTAAGTGGCTTCCAACATTCTTCTTCAAATATATCTTTTGTGTTCAATAGAAAAAAACTCAGGCAGGTTTGAGAATGGGTAAAGTGTTGATAGATTTTTCATTTTCAGATGGACGGTCTCATTTTGTGTAACATACCGACTGTATCTTTTTTGTTTA[G/A]CATTGAGCGCATCATCACCCCGCGTCTGGCACTGACCACAGCAGAGTATCTGGCTTATCAGTGTGAGAAGCACGTGTTGGTCATCCTGACGGACATGAGCTCCTATGCGGAGGCTCTGAGAGAGGTGAGAACGATATCATGCCAATAAAATTATTTCCTCATAATGAATGTCTGAGGCAAGGGCCACGCAAGAGCCTCTGATTTTTGAGAAAAGTGGATTTTAATTAACTTCCAGTTATTTTTTTATTAGAGATGCAATAATGTAAAAGCTATTTCCATGCTGTCTGCTATTTGCTGATTGTTTAATAATAGCTGATGATGAAGCCTGATTATGTCCTGTCAATCAAAAGAAGGCGGGAAATGTCATATTTTACTTGAGAAATTACTAAAGAAATCACTACATTTTGAGCATTTCAACTTCTTTAACGCACCTTAAAGAAAATTTCTCACATTTTTCAATGTTAAGGAGGTTTAGTCATGTTAACCTCCATCCAAAGATG
Associated Phenotype:
Not determined