Busch Lab

ZMP

si:dkey-28b4.8

Ensembl ID:
ENSDARG00000002840
ZFIN ID:
ZDB-GENE-090501-2
Description:
Novel protein similar to H.sapiens ATP2A1, ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Human Orthologue:
ATP2A2
Human Description:
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 [Source:HGNC Symbol;Acc:812]
Mouse Orthologue:
Atp2a2
Mouse Description:
ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 Gene [Source:MGI Symbol;Acc:MGI:88110]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa39667 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa45081 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa39667
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
ENSDART00000046562 Essential Splice Site 367 1054 None 22
ENSDART00000133210 None 324 1012 8 20
Genomic Location (Zv9):
Chromosome 1 (position 45136701)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 43979920
GRCz11 1 44681223
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTGTATGCATGTGTGTGCATGTGTGTTTGTGTGCGTGCAGTTGTTTAT[T/C]GTAGACATGGTCGCAGGTGAGAGGTGTTTACTGAACGAGTTTACAGTAAC
Long Flanking Sequence:
CTTCAAAAATGTTAATTTTCGCTAATTTTCTCCCTCCGTGCTCCACTAACTCACTCACTCTCTTTAAAATTCTTATTTCTCACAGGTCTTCCTGCCGTCATCACCACATGCCTGGCACTTGGCACACGTCGCATGGCCCGCAAAAATGCTATAGTTCGCTCGCTCCCATCTGTGGAGACACTCGGCTGCACCTCCGTCATCTGCTCCGACAAAACAGGCACTCTAACCACCAACCAGATGTCTGTCAGCAGGGTAAGAAAGATATTTGTGTTTACTATACTCTAATATTTCTAGCAATTCTATCATTTTAAGTACGTCTGTAACATGTAACAATAGTGTCTAATGCTGTTTAGGGATCCTAACCGTGTGGATTAATCTGTTTTGGTAGTTAGGAGATTAATAACATGGAATGATGCTTGAAAGTTACTGATCAAACTTACTAATCATGTTGTGTGTATGCATGTGTGTGCATGTGTGTTTGTGTGCGTGCAGTTGTTTAT[T/C]GTAGACATGGTCGCAGGTGAGAGGTGTTTACTGAACGAGTTTACAGTAACTGGATCTACTTACGCTCCTGAAGGAGAAGTGTGAGTTTATTTCGCATTTAACTACTCAGACACACACACACACATGGATGTGTTACAGGAACCTTTGGTTTGTTCAGGTTAGGTCTACATAAGTACATTTTCTTTTTAATATGGCATTTTGAAAATGATTCTCATTCATTCTGGCATTTATACTATGTTTTTTTTATTTACACTGTAAACTGTTTTTATTTACACTGTGTTTACACTGTATTTACACTTACACTGTATTTTACGTATTGTTTTTTATTTACACTGTACAACCAAAAATGTAGTATATACTTTATATGTAATATACTTTACGTTATAATGGTATTTGTGATAATCTGGTAATCAGTTGTGTAGAGAGAACATTTGTCAAATTTTAAAGCGGAAAATTCTTTAAATGTTATTTTTTTATAACAGAACTAACAATAACTTTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45081
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046562 Nonsense 1027 1054 22 22
ENSDART00000133210 Nonsense 985 1012 20 20
Genomic Location (Zv9):
Chromosome 1 (position 45109039)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 43952258
GRCz11 1 44653561
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCCCGCTGGAGGGGTCGTCGGCAAACTGCAGAGTGCATTTAGAGGCATTT[C/A]GTGGTCGTTCGTCCTCATCTCCGCCCCGTTGCTGGTCTGGATCTTCAGCC
Long Flanking Sequence:
ATTTTCAGCCGAGTGTGTTTTGGGACTCGGTCCCACACACATGTGGTCAGAAGCATTTTTCTGAAATTACGCAACGCAGCTTTCAGTCCTTTTCTGGCATTCCAGTTCACCGATTCAGTTTTTCTCATAAATTTGATTAGATCAAACAATAATCTGGCTCCTGTAGCTACTGGCATCTTTAAAGCATCTCTTGCAGTGTTCCTAGGAAGAATAAAAGGCAATTAGCATGAGTAAAAGATGACAGGACTTTCGTTTTTAGGTGAACCTTTCCTGTAACCATTACTGTTTGTTTCTGCAGGTCATATTTCAGATCCGACCTCTGTCTTGGCCTCAGTGGGTAGTTGTCCTGAAGATGTCTCTGCCTGTGATTTTGATGGACGAAGCCCTGAAGTTCTTGGCAAGGAACTACATTGAGCCTGGCAATGACCTGCAGCTGGATGAGGACAGGGGTCCCGCTGGAGGGGTCGTCGGCAAACTGCAGAGTGCATTTAGAGGCATTT[C/A]GTGGTCGTTCGTCCTCATCTCCGCCCCGTTGCTGGTCTGGATCTTCAGCCTGGACTCAGACATTACTAACATCTTCTGGGATTAGAAGGAAGGAGTGTGTATGTGTGTGTGAGTATGTTTGTAAGTGTGAGTTTGTCTTAGTCAGAGAAAAAAAAAAAGAGGCAGAAGCAGTGAACCGATTTGGGCGCAAAGCTTAGGACAAGGACAATCACAGAGAAGGAATGATGGGGAAAGTTAGCGGCCGATGGTGGGAGAACTTTAAATTAGTCATTGAAAAACAGCATGAGCGATTACTTCAGCCTTCCTCATGTGTGTCTCCGGTTTTGCATTGCTTTTTTATTATTTATTTATTTTTTAAAATACGTTGGAATTACACATGCATCCGCATTTGTTTTAGCCTGGATGTTTAAAAACTTTGGTAATTTACTGGTTATATTGTTGTTTTTTTTAACATGGAGTTTCTGTATTAGGATCAACACATTAGTTATTATCTATTGGGA
Associated Phenotype:
Not determined