Busch Lab

ZMP

si:ch211-199i18.4

Ensembl ID:
ENSDARG00000035538
ZFIN ID:
ZDB-GENE-091113-4
Human Orthologue:
ATP6V0A2
Human Description:
ATPase, H+ transporting, lysosomal V0 subunit a2 [Source:HGNC Symbol;Acc:18481]
Mouse Orthologue:
Atp6v0a2
Mouse Description:
ATPase, H+ transporting, lysosomal V0 subunit A2 Gene [Source:MGI Symbol;Acc:MGI:104855]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa45390 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa18975 Nonsense Mutation detected in F1 DNA Not yet available
sa9960 Nonsense Available for shipment Available now
sa34840 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa45390
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054119 Essential Splice Site 349 842 9 20
ENSDART00000140476 Essential Splice Site 349 842 10 21
Genomic Location (Zv9):
Chromosome 10 (position 7038353)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 8051153
GRCz11 10 8009853
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCTGTCAGTGACCTGGCCAACCTGCGGCGGGCGCTCGAGGAGGGGTCGG[T/G]GAGTAACAGGGGTATAGATTTTAAACTAATTACTGATGTAGCAGAAGCCA
Long Flanking Sequence:
TTTTTGCAGTTACCACTGTCATATTTACCCTCATCCCGAGACAGACGAGGAAAGAGCCGATGTTATGGACAGCCTGAGAACACGCATTCAAGACTTGCACAATGTACGTCTTCTGCTTTCCTCAGCAGCTTTAGTGCCTCCTTGGGGAGCTTTTTGTTATTGAACTCTGCTATTGGTTTGTCCTCAGCTAAATAATGCTGACATTATCAAATTCACTAGAGAAACCGCTTAATCATGTGAGCCTGCGCTGTCATAATTAAATGTTAATGAAGCTGTCTTTGGTTAGGTTTTGCACCGCACTGAGGATTACTTGAAGCAGGTCTTGCATAAAGCTTCAGAGTCAGCCCAGTCTTGGGTTCTGCAGGTGAAGAAGATGAAGGCCATTTATCACATCCTCAACCTCTGCAGCTTCGATGTCACAAATAAGTGTCTCATTGCTGAAGTGTGGTGTCCTGTCAGTGACCTGGCCAACCTGCGGCGGGCGCTCGAGGAGGGGTCGG[T/G]GAGTAACAGGGGTATAGATTTTAAACTAATTACTGATGTAGCAGAAGCCATTGGGAAGGATTGATGTGCCTACAAGAGCATGGGGTTTCAGTCTTTTTGATGACACAGACTACCTGTATAGTTTAAAATGTAACTTATTCTGTGAATTTTTTTTAAAATAAATATGTATATATATATATATATATGAGCAATATATATATATGAGCAATATCACACGAGTAGCAGTGCGATATGGTTGTATATCGGCACTGGTGGGAGGCCGCAGTAGTGCCCCCACCAGTGCTGTACTATTTTCCACAAAATAATTTGCATATTTTATTCAAATTTAATATTGATTGTAATCTAATTTTGTTAATTAGTTTGTTTGTTTTTTTATCAAATTTTATTCATACATTTATTTAAATCAATTATTTGATCATTTCTTTCCTATTTGATATGTTTATTGTATTGAAATTATTATAATAATTTTATTTATTTTAAACATTTTTACACTGTTTATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18975
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054119 Nonsense 609 842 15 20
ENSDART00000140476 Nonsense 609 842 16 21
ENSDART00000054119 Nonsense 609 842 15 20
ENSDART00000140476 Nonsense 609 842 16 21
Genomic Location (Zv9):
Chromosome 10 (position 7028186)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 8040986
GRCz11 10 7999686
KASP Assay ID:
2260-2862.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTGGGTACTTGGCCTTTATGATCTTTTACAAATGGCTGGCGTACACAGCA[C/T]GAGACTCACAGCTGGCACCGAGTATCCTCATCCACTTCATCAACATGTTC
Long Flanking Sequence:
AGAGGAGCGGCGGAGCGGCACCACACTGCCCCGCAGCGTTCGCTCGAAAAAAAAATAAACGCGGCCGTACGTACCTCCGGCCATGTAAATCGCGGTCTCCAGAAACGTCCGCGGGGCTACCTTTCCAGAATGAGCTTGGGTTGGAATTAATATGCTTAATATTCGGCCATCAAATAGTGCCAGAAAGATCTGTATGATGCACATCATACTGTATAAATTAATAAATAAATAAACTCCTACCTACCTACCTACCTAACTACCTACCTACCAGAAGAGAGTCAATACTCATTTCCTCTGCATTTAGCCTCTCTTTGCTCCTGTTCTCTCCAAATTCTCCCTTCTCTTTCTAAAAATCTATCTTCTCTTCACTATGTCTCTCCAGGCACTTCCGACAGAAGTACAAGATCTATCTCCTTTTTCTTCCTGAGCTGCTCTTTCTGCTTTGCCTCTTTGGGTACTTGGCCTTTATGATCTTTTACAAATGGCTGGCGTACACAGCA[C/T]GAGACTCACAGCTGGCACCGAGTATCCTCATCCACTTCATCAACATGTTCCTAATGCAGGCCAATGCCACCTCACCTCTTTATCCCGGCCAGGTGTGTGATGTATGGCCGCCCTTCATTGTGTGCGCATGCGTTCTGCATCTATGACATGAGAGAGATTAGTCAAATATGACACCTAATGAAGATTTTTAACAGTTCAAGAAGAACTAGTAGAAGAACTAGAATGAGTAGCAGCTATCTTAGAGCAGAAGTCATATAGATTGATCCTAGTGAATGACAAGATTAGATTAAAAAATATATATTATTATCATTATTCTTTTTCTTCTTACAAGTTGTCACTAAAGCCATGTGTATTAAAGATTTGATGTGGGGTATTATTGGGTATTATGTAAATAATGAACAACAGTGGGCCAAGAACAGCTCCCTTTGGTACACCTTCCTTCTTATGAATAGAATAGTATAGTACAGTACAGTATATTATAGTATAGTGTAGCATAGTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9960
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
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054119 Nonsense 609 842 15 20
ENSDART00000140476 Nonsense 609 842 16 21
ENSDART00000054119 Nonsense 609 842 15 20
ENSDART00000140476 Nonsense 609 842 16 21
Genomic Location (Zv9):
Chromosome 10 (position 7028186)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 8040986
GRCz11 10 7999686
KASP Assay ID:
2260-2862.1 (used for ordering genotyping assays)
KASP Sequence:
TTGGGTACTTGGCCTTTATGATCTTTTACAAATGGCTGGCGTACACAGCA[C/T]GAGACTCACAGCTGGCACCGAGTATCCTCATCCACTTCATCAACATGTTC
Long Flanking Sequence:
AGAGGAGCGGCGGAGCGGCACCACACTGCCCCGCAGCGTTCGCTCGAAAAAAAAATAAACGCGGCCGTACGTACCTCCGGCCATGTAAATCGCGGTCTCCAGAAACGTCCGCGGGGCTACCTTTCCAGAATGAGCTTGGGTTGGAATTAATATGCTTAATATTCGGCCATCAAATAGTGCCAGAAAGATCTGTATGATGCACATCATACTGTATAAATTAATAAATAAATAAACTCCTACCTACCTACCTACCTAACTACCTACCTACCAGAAGAGAGTCAATACTCATTTCCTCTGCATTTAGCCTCTCTTTGCTCCTGTTCTCTCCAAATTCTCCCTTCTCTTTCTAAAAATCTATCTTCTCTTCACTATGTCTCTCCAGGCACTTCCGACAGAAGTACAAGATCTATCTCCTTTTTCTTCCTGAGCTGCTCTTTCTGCTTTGCCTCTTTGGGTACTTGGCCTTTATGATCTTTTACAAATGGCTGGCGTACACAGCA[C/T]GAGACTCACAGCTGGCACCGAGTATCCTCATCCACTTCATCAACATGTTCCTAATGCAGGCCAATGCCACCTCACCTCTTTATCCCGGCCAGGTGTGTGATGTATGGCCGCCCTTCATTGTGTGCGCATGCGTTCTGCATCTATGACATGAGAGAGATTAGTCAAATATGACACCTAATGAAGATTTTTAACAGTTCAAGAAGAACTAGTAGAAGAACTAGAATGAGTAGCAGCTATCTTAGAGCAGAAGTCATATAGATTGATCCTAGTGAATGACAAGATTAGATTAAAAAATATATATTATTATCATTATTCTTTTTCTTCTTACAAGTTGTCACTAAAGCCATGTGTATTAAAGATTTGATGTGGGGTATTATTGGGTATTATGTAAATAATGAACAACAGTGGGCCAAGAACAGCTCCCTTTGGTACACCTTCCTTCTTATGAATAGAATAGTATAGTACAGTACAGTATATTATAGTATAGTGTAGCATAGTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34840
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000054119 Essential Splice Site 640 842 16 20
ENSDART00000140476 Essential Splice Site 640 842 17 21
Genomic Location (Zv9):
Chromosome 10 (position 7026268)
Other Location(s):
Assembly Chromosome Position
GRCz10 10 8039068
GRCz11 10 7997768
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CACAGCAGAAAGCCGCTGATATCTGTGCATGTGTTCATGTTCTTGTGACA[G/T]ATGGGACTGCAGGTGTTTCTGGTGGTGGTGGCGCTGCTGTCGGTGCCAGT
Long Flanking Sequence:
ATAGTACATTATAGTATAGTACAGTACAGTATTTTATATAGCATAATATAACATAGTATAGTACAGTATAGTATAGTATATTATATAGCATAATATAACATAGTATAGTACAGTATAGTATAGTACAGTATATTATATAGCATAATATAACATAGTATAGTATAATATAGTACAGTATAGTATATTATAGTACAGTGTAGCGTATTAAAGTATAGTATAGTTAGTGTATTATAGCATAGCATAGTATAGAACAGTGTAGCGTATTATAATATAGTATGGTATAGTATAATGTAGCGTAGCGTATTATAGTGTAGTATAGTATGGTATAGTGTAGTAAGCGTATTCTAGTATAGTATAGTGTAGTATAGTATAGTTAATCTGCACTAAGATGAAGAACTGTCTGCCAGAGAGATAAGACTAAAACCAAGAAAGAACAGCACTCGAAATGCCCACAGCAGAAAGCCGCTGATATCTGTGCATGTGTTCATGTTCTTGTGACA[G/T]ATGGGACTGCAGGTGTTTCTGGTGGTGGTGGCGCTGCTGTCGGTGCCAGTGCTGCTGCTTGGCAAACCTCTGTATCTGTACTGGCTGCATCACGGCGGGAAGAGTCTGGGGATCCACAGGGTGTGTCTGTGTTCTTGTGTATGTATGTGTTTGTATCTGATGTTTAGTTATCACATGGTGCATTCAGAAATTAGCACACAAAGTTGTGTTTTTAATCATGAATTGAGAAAAAAATTCATGCTTATTCATGATTAATCTTAAGTGCTCACTTGACAGGAAAATATAATCACATATTAATTGCAATTACTCACCTCAATGTAGAATTAACTTTATTTTAAATCATTTTATTAACTTAATTTTTTGTTTAACATGTTGCTGAGTACTATAACATTGGTAATTGTTTTATAGAAATTTGCCTTTTTGTAGATTGACGGCTATTTAGTTATATGAATTTCTGTTTTAATATGAGTACTTTCTTGGTGTTATTATAATATATATAT
Associated Phenotype:
Not determined