Busch Lab

ZMP

si:dkeyp-101g1.3

Ensembl ID:
ENSDARG00000052748
ZFIN ID:
ZDB-GENE-091113-20
Description:
calpain 1, large subunit [Source:RefSeq peptide;Acc:NP_001138267]
Human Orthologue:
CAPN1
Human Description:
calpain 1, (mu/I) large subunit [Source:HGNC Symbol;Acc:1476]
Mouse Orthologue:
Capn1
Mouse Description:
calpain 1 Gene [Source:MGI Symbol;Acc:MGI:88263]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa43862 Nonsense Mutation detected in F1 DNA Not yet available
sa43861 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa43862
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000105099 Nonsense 503 700 11 19
Genomic Location (Zv9):
Chromosome 22 (position 26898860)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 26287716
GRCz11 22 26307613
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACTTTTGAGCCTGGAAAAGAGGCTGACTTCGTCCTGCGAGTATTCACT[G/T]AGAAACAGTCAGAAACTCAGTAAGTGACTAAACGATTAAAACTAAAATAA
Long Flanking Sequence:
CATACAATGATATCACGTCATTTAACAACTTTTAGTAACACATTGCTTCACCTTTTGCAAATTCAAAACCAGTAGTTGGCAACAGTGTGATTGGGATTAGAAGGTAAGTTAGGTTAAGGTTAATTATGCAAAAATAAATTTTAATTACTATAGTACATACATGGAACATGTAACAAGGGCACTTTAAAATGAAGTGTTACCCAATTATTTTTCAAATCTGTTTGGTGATGCAGCAGTTTTATTTTTGAATGTATTGTAAAACATGAGGTTAATAATTTAAAAAACTTTTACTTTTCTTCTGTTTTTAGTTTCTTGGCTCCCAGAATGTTCACCTGAAGAAGGATTTTTTCTTGCGTCACTCGTCCTGTGCACGCTCCGAGACCTTTATTAATCTGCGAGAGGTGAGCACGCGACTGAGGCTGCCACCGGGCGAGTATCTCATTGTCCCTTCCACTTTTGAGCCTGGAAAAGAGGCTGACTTCGTCCTGCGAGTATTCACT[G/T]AGAAACAGTCAGAAACTCAGTAAGTGACTAAACGATTAAAACTAAAATAACAATAGTATTATAGATAAAATATTTTTAAAAATGACTACCATGTGGGTTTTGTATTGTGCAGCCTTATTTTACGACATATTTTGCTTTTTCTTTTATTTTTAGAGAAATGGATGATGAAATTTCATTTAACCTGGAAGATGAAGTAAGGACTTGTTATTATTGTGGATGTGGAAACTAAATGCATGTATGTATGTAAATATATAGATTTATATACTGTACAAATCAACTACCTAGAAAGGCTCTACTACATACCTAGCAACCCCTTAGCAACACAACAGATATACTTTTAACACTTTAATACTTTCTCTCAGAACACATTAATAACTAAACAAAGTCAGCACATTAAACTTTTCAAAACAAAGCAATACGATCATTTAGAACAACATAGCAACATAATAAATCCCTTAGCACACTAAAGCCCCGGTCAGATAACACGATTTTTATTGTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43861
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
ENSDART00000105099 Essential Splice Site 585 700 15 19
Genomic Location (Zv9):
Chromosome 22 (position 26895267)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 26284123
GRCz11 22 26304020
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGATGGGTTCAGTTTGGAGTCTTGTAGGTGCATGATCAACCTGATGGAC[G/A]TATCCTAACATTCTGACTTTTAAAAACGTATAAATAGCATATATACTTTC
Long Flanking Sequence:
GTTTGATTAGGGTTGGAGCAAAACTGTGCAGAGCAGCGGCCCTCCAGGAATCCAGTTTAAGACTCATACCTTACCACAATATTCAGATTAAAAATGAAACGAAATGTATTATAATACAGTGTATGGACGTCTGTTGTATCTACAGGAGGCAGTCTCAGAGGAGAACATTGATGCCTCGTTTAAAAAGATGTTTGCTCAGCTGTCTGGAGAGGTGTGTTTGTATCTGTGTGATATTGTTAATAACATTGTGAACTGCGTTATATTAAAAGTTCATCTAAACTTGTAGGACATGGAGATTTCAGTTCACGAGCTCCGGACCATTCTGAACCGAGTGATGACAAAACGTAAGCTCAGAGGACGTTTTTAAAAAATTCAGATCTGATGTGTTTACATTTTTGTGCTCGATAATTACCTCTGCTCTCCTGTGTTCTGCAGACCGAGACTTAAAGACAGATGGGTTCAGTTTGGAGTCTTGTAGGTGCATGATCAACCTGATGGAC[G/A]TATCCTAACATTCTGACTTTTAAAAACGTATAAATAGCATATATACTTTCACCTTGCTAGTACCACTTTTTGCATTCAGAAGAGCATTTGGGGCACAGATTCCAGAATGTAATGGAAACATTCCTCAAAGATTTGAGTCCAAATTGCACTGACAACATAAGATTCAAATTCCAATTCTTCCAGTGAACTGTTTATACAAGACAGGTTTGCCAAGTCAAGTTAAGTATTATTGTCCGTCTTTAAGGTCACAAGGTACAGTATAGTGAATTGTTGTGTCTCACAGGACCACGGTGCTACATACTAATGAAACATTTATTCATTGATTCATTTTCTTGTCTGCTTAGTCCCTTTATTAATCCGGGGTCGCCACAGCAGAATGAACCGCCAACTTATCAAGCACAATTTTACGCAGCGGATGCCCTTCCAGCCGCAACCCCTCTCTGGGAAACATCCACACACTCATTCATACACACACTCATACACTATGGACAATTTAGTCC
Associated Phenotype:
Not determined