Busch Lab

ZMP

LOC572029

Ensembl ID:
ENSDARG00000076622
Human Orthologue:
ATP13A3
Human Description:
ATPase type 13A3 [Source:HGNC Symbol;Acc:24113]
Mouse Orthologue:
Atp13a3
Mouse Description:
ATPase type 13A3 Gene [Source:MGI Symbol;Acc:MGI:2685387]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa35125 Nonsense Mutation detected in F1 DNA Not yet available
sa11201 Essential Splice Site Available for shipment Available now
sa41882 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa35124 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa35125
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111702 Nonsense 61 502 2 13
Genomic Location (Zv9):
Chromosome 11 (position 34983351)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33883697
GRCz11 11 34146129
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGATCTCTCACCGTTTGTGCTCTCTGTTTTCAGGAGGTGGAGATTATTT[T/A]GGAAGATGGTCATTCTGTGGATGAGTCCAGATCTCAGGAACAGTATCACT
Long Flanking Sequence:
CCCACTTGTTTCTCCAATCAACTTTTGAAGGCCCACCTGTCTGACGTTTTCTTTAAAATGTTTTGATGAAATGTTCATCTAAACCTTTATTTATTAACAAATATATATTATACATTTGTTGTGCCTTCTGTTATTTCCTATTATTAGCATTTTATTAAAAATTATATAGTTTTATTTAAATTGTATTATATATAAACTAAAACTATATATATATATATATATATATATATATATATATATATATATATATATGTGTATATATATATATATATATATATATATATATATATATATGTGTATGTATATGTAGTTTTTTGATCGTATTAGCTAGGCTTTGACGTGTTTAATGCACTTGTTTCAAAAACAACAACAACAAAAAAACTTTGATTGCCAGTGTACATTAAAAACCTTCATATATTATCATCGGATGAAGCACAAAGCTGTAGCTTCAGGATCTCTCACCGTTTGTGCTCTCTGTTTTCAGGAGGTGGAGATTATTT[T/A]GGAAGATGGTCATTCTGTGGATGAGTCCAGATCTCAGGAACAGTATCACTTCGCCATGAGCGGAAAATCTTTCGCTGTAATTATTGAGCATTTCCAGGACCTGCTGCAGAAGGTTAGTAGGCCGCTAATTCCCCCTATACTGTATCTCTGTGCATGTGTCACGTTTGATATTTACAATGTTTTCATGGTGTAGCTGGTGCTTCATGGGACTGTGTTTGCAAGGATGGCGCCTGACCAGAAGACTCAGCTTGTGGAGACTTTAGAAAGTGTAGAGTGAGTATTACTTAGACACACACACAAAGTCTGTGTAAAATTTTATGTTTACAATGTTTATTTTGCTAGAACACAATGTTTTTGTTTAGGTGAACTATCAGTAAATCAGTAAAGTTAATCTGTGGAAAAATAAATTATTCATTAATTTTCCTTCAGTTTAGTCCTTTATGTATCAGGGGTTACCACAGCAGAATGAACCGCCAACTATTCCAGCATGTTTTACGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11201
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111702 Essential Splice Site 98 502 2 13
Genomic Location (Zv9):
Chromosome 11 (position 34983237)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33883583
GRCz11 11 34146015
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AAAATCTTTCGCTGTAATTATTGAGCRTTTCCAGGACCTGCTGCAGAAGG[T/C]TAGTNGGCCGCTAAWTCCCCCTAWACTGTATCTCTGTGCATGTGTCAYGT
Long Flanking Sequence:
TTTGTTGTGCCTTCTGTTATTTCCTATTATTAGCATTTTATTAAAAATTATATAGTTTTATTTAAATTGTATTATATATAAACTAAAACTATATATATATATATATATATATATATATATATATATATATATATATATGTGTATATATATATATATATATATATATATATATATATATATGTGTATGTATATGTAGTTTTTTGATCGTATTAGCTAGGCTTTGACGTGTTTAATGCACTTGTTTCAAAAACAACAACAACAAAAAAACTTTGATTGCCAGTGTACATTAAAAACCTTCATATATTATCATCGGATGAAGCACAAAGCTGTAGCTTCAGGATCTCTCACCGTTTGTGCTCTCTGTTTTCAGGAGGTGGAGATTATTTTGGAAGATGGTCATTCTGTGGATGAGTCCAGATCTCAGGAACAGTATCACTTCGCCATGAGCGGAAAATCTTTCGCTGTAATTATTGAGCATTTCCAGGACCTGCTGCAGAAGG[T/C]TAGTAGGCCGCTAATTCCCCCTATACTGTATCTCTGTGCATGTGTCACGTTTGATATTTACAATGTTTTCATGGTGTAGCTGGTGCTTCATGGGACTGTGTTTGCAAGGATGGCGCCTGACCAGAAGACTCAGCTTGTGGAGACTTTAGAAAGTGTAGAGTGAGTATTACTTAGACACACACACAAAGTCTGTGTAAAATTTTATGTTTACAATGTTTATTTTGCTAGAACACAATGTTTTTGTTTAGGTGAACTATCAGTAAATCAGTAAAGTTAATCTGTGGAAAAATAAATTATTCATTAATTTTCCTTCAGTTTAGTCCTTTATGTATCAGGGGTTACCACAGCAGAATGAACCGCCAACTATTCCAGCATGTTTTACGCAGTGGATGCCCTTCCAGCCACAACCCAGTGCTGGGAAACACCCATACACTCTCACATCCACACACTCATACACTATGGCTAATTAAGTTAATCCAGTTCACCTATAGAGCATGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa41882
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111702 Essential Splice Site 139 502 4 13
Genomic Location (Zv9):
Chromosome 11 (position 34979302)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33879648
GRCz11 11 34142080
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGCAGTTATTTTGTAGGGATGTGTGGTGATGGAGCGAATGACTGTGGGG[T/C]GAGCTGTTTTTATTGTGTTTTTTATACGTCGTCTCTGTGTTGTGGACTGC
Long Flanking Sequence:
AAAACTTTGGAACAGGCTTTTACCCCACATCAGACATGCTCCAACTCTATCTGTTTTTAAAAAGCATTTGAAACTCCATCTTTGTTCTTTAGCATTTGAGCCTTTTTAAATTTGAGGGGTTTGCCTTATGTTTTAAATGTTATGTATGTGATGTAGGTTTTATTTTAATTTAGTATTGATTGTGTTCAGCACTTTGGTCAATGTTGTGTTGTAAAAAATGTGCTATATAAGTAAACTAACTAACGAACTAACTTGAAAAATATCTAGTCAAATATTATTTACTGTCATCGTTGCAAAGAGAAAATTAATCAGTGATTAGAAATGAGTTATTAAAACTATTATGTTGAGAAATGTTTAAAAAAACAGAAATTAGGTAAAAATCTACAAGTAGTCTAATAATTCTGTATATTTAAAGAGAAAGTGTAGTTGTACTAACATGTTTTCCCTTTCCTGCAGTTATTTTGTAGGGATGTGTGGTGATGGAGCGAATGACTGTGGGG[T/C]GAGCTGTTTTTATTGTGTTTTTTATACGTCGTCTCTGTGTTGTGGACTGCATTACTGATGATGTCTGTATGTGTTTTGCTCAGGCACTGAAGAGAGCTCATGCCGGGATCTCACTGTCAGAACTGGAGGCTTCAGTGGCGTCTCCTTTCACCTCCACAACTCCCAGCATCACCTGTGTGCCCAACCTCATCAGGTGAGCTGTCATGACCAATCACAACTGGAGCACAAACACTGTAAACAGAGTTTTTTAAGAACCACATTTCAAGTGTCGTGTTTGTGTGTAGTCTCATACAGTGCATGTTGTTTCTCCACAGAGAAGGCAGAGCGGCTCTCATCACCTCCTTCTGTGTGTTCAAGTTCATGGCGCTCTACAGTATTATTCAATGCCTCAGCGTCGCACTGCTCTACTCCGTAAGCTCCGCATTTCCTTTACAACTATTGTAGAACAACTTTGTGTAGTAGTTCTACTTCTTTTACAGGGGTTTGTGAATAACTGAAGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35124
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111702 Nonsense 446 502 13 13
Genomic Location (Zv9):
Chromosome 11 (position 34955175)
Other Location(s):
Assembly Chromosome Position
GRCz10 11 33855728
GRCz11 11 34118530
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATTGTGTGTGTGTCTATAGGGAGGAATAGACATGTATGGATCTAAATG[C/A]CTCTCCTGGCTCTGCTGCCGGCGAAGAAAAGTTCCCAAGGCACGCTACAT
Long Flanking Sequence:
GGAGCTTAAGATTAGCTAAAGCAAAGAAATACACACCATTTGAATTTTGGCATTAATTCAAATAGACATTCATTTCCCTTGCATGTGCTTGAAGGCATGACAAAACAAACCAAAGGCTCTCACATCGTTTCTGCAGATGAATATGAATCTCATTTCACTTACCACGTTTAACATTTACAGCAGTGGTCACCAAACTTGTACCTGGAGGGCCGGTGTCCTGCAGATTTTAGCTCCAACCCTATTCAAACACACCTGAACAAGCTAATCAAAGTCTTACTTGGTATGCTTGAAACATCCAGGCAGATGTGTTGAGGCAAGTTGGAGCTAAACCCTGCATGGACACCGGCCCTCCAAGACCAGGATTGGTGACCCCTGATTTACAGGTTGAAATTCTGTCTTGTCAAGAACATGTGGAAAATGCATACATCTTCTCCTCCTTGTTCTTCCATGCCATTGTGTGTGTGTCTATAGGGAGGAATAGACATGTATGGATCTAAATG[C/A]CTCTCCTGGCTCTGCTGCCGGCGAAGAAAAGTTCCCAAGGCACGCTACATGCATCTGGCACAAGAATTAAGCGTAGATCCTGACTGGCCCCCCAAACCCAAGAGCACTACTGAAGCCAAACCCGCCCTACATCCAGATGACTGCTCCTACCAGATCGAGGCGATTTCCTAGCATTTCTTTCAGCAGTAAATACACTCCGTATTGCACGTCCAAACCACCAGGGATTTCTGTAAACACTGTCAAAAACAATTACGAAAAGACCAAAAACCTGCTAGGGGAGAGCTGTCTTTCTTCCTGGATTATTTTGTTTGTTTGTTTCACTTCTGCTGCTCAAGATTGTTTCCTTTTTTAAATGGGTGGAGTTTACAGGCTGGGAACTGTAGAAGCTCCGCCCCCCCCCCCGGGCATGCGGCTCGTCACCGATATTCCCTTAAAGCATCATGTAGACCGCAAAACGATTGAACTCATTACCAAATGTGGCTCTTTTAGATGATTACCAT
Associated Phenotype:
Not determined