Busch Lab

ZMP

im:7154842

Ensembl ID:
ENSDARG00000052917
ZFIN ID:
ZDB-GENE-080917-19
Description:
CAPN1 protein [Source:UniProtKB/TrEMBL;Acc:Q58EB1]
Human Orthologues:
CAPN13, CAPN14
Human Descriptions:
calpain 13 [Source:HGNC Symbol;Acc:16663]
calpain 14 [Source:HGNC Symbol;Acc:16664]
Mouse Orthologue:
Capn13
Mouse Description:
calpain 13 Gene [Source:MGI Symbol;Acc:MGI:2685789]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa36517 Nonsense Mutation detected in F1 DNA Not yet available
sa2897 Nonsense F2 line generated Not yet available

Mutation Details

Allele Name:
sa36517
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074854 Nonsense 180 726 5 22
Genomic Location (Zv9):
Chromosome 17 (position 45748157)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 45597389
GRCz11 17 45580641
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCCACACTTCTGTTGTTGTAAATTTATAGTTCTGGCGCTTTGGAAAATG[G/A]TTCGATGTAGTGATTGACGACAAGCTGCCAACAATCAATCGCCAGCTGAT
Long Flanking Sequence:
CTTATCACAAATCGAAAAACAGGATTATTTTGCTTACCCCATTGGCAGATTATTTAGCTTGATTTAAGGAAAAACTCACTTCGTTTTGGCCTGTTATTTCTTAAAACAAGACAATATGTTTTGCTTGTCTAGAAAATGCTTCTTGATTTAAGAACTTTTAGATATTTTTTACCAGAAATAAGACAATAAATCCAAGTAAGAAAAGCATTTTTTTGCAGTGTAAGTATCAGATTCACTGTTGTTGTGTTGTTATTTTTCCTCAGGAAACTGTTGGTTTCTGGCCTCTGTTGGTGCCTTAACATTTCAAAGCAAATTACTGCAAAAGGTTGTTCCAGATGGACAGTCACTCAGACACAATTACACTGGCTTATTTCACTTCAGGGTGAGTTCCTTCTTTTTTTGCCATCTTATAAATCATTTATTTGTGTTCCGCACCTAAAATAACTGTTTATCCACACTTCTGTTGTTGTAAATTTATAGTTCTGGCGCTTTGGAAAATG[G/A]TTCGATGTAGTGATTGACGACAAGCTGCCAACAATCAATCGCCAGCTGATCTTTGTCAAATCTAAAACATATAATGAGTTCTGGCCAGCCTTGCTGGAGAAAGCATATGCCAAGTAAGTGCTGTTAAATCTTTAAAGTTATGAAATATAACCTCAAGCATATGTAAGCAATAGCGCTGTTGTTTTTAATACAAGCATGGTTGTAATTCATGTGCAGTAGTAATGCTCAAAATTTATGTCTGTTTCACTGCGGCGAAACAATTTAGAGCTAGAATGACTGTTGCAGGGTATGTGGCTCCTATGCTGACATGCACACCGGCCGAGTGTCTGAGGCCCTGCTGGACTTCACTGGCGGGGTTCATATGCACTACGATCTGAAAACGGCTCCGACTGATCTGTGGGAGATAATGTACCGTGCTTCCCAGTCAGAGGTCCTTATGGGCTGTGAAAGCCCAGCAGGGGTAAGCCAAAAGAGATTATATCCTACAGTTGTGGTCATTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2897
Status:
F2 line generated
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
ENSDART00000074854 Nonsense 604 726 17 22
Genomic Location (Zv9):
Chromosome 17 (position 45762141)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 45611373
GRCz11 17 45594625
KASP Assay ID:
554-2540.1 (used for ordering genotyping assays)
KASP Sequence:
CATGATCTTTTAGGGAGAAAAAATGCTGAAGGATTTGGGCTGGATTCCTG[T/A]AGAAGTATGATWGCCATGTCAGATGTATCCTTTCTTCTTGAAAATCGNNN
Long Flanking Sequence:
CTTGCCAACATTTTAAATATTATTAATATGATCCATTTAAGATTACAGAGAGCTGCTACAATATTTAAAAGTTGTAAAGAGTAGATACAGCAGATTTCAAATTTCTTGTCTTTCCTTTCTCACCTTCAGTCTGGTTGCACAGAAAAGGAGGATGAAGAGTCAAAAACAAAATTTCTGTTTCGACAGTATTCTGATCAGGTAAATATGAAATCTAACACCCAATCAAAATTAAAATGAGATCCAAAAAATTTAACAAAATAATAAAATATCGCTTAAATGCCTTTATTGGAAACAGTACAAAGTTGTGGATGCTGAGAAACTCCAGCAGATTCTTCATGAAAATCTGCTTAGAGGTGAATTAATATTTTTTATTGATGAAATACTGACAATTCTGAAATCTTAAACTACGATAAATGTAGATGAAATCTTGCAAATGTCTCTTTTGTGTTTCATGATCTTTTAGGGAGAAAAAATGCTGAAGGATTTGGGCTGGATTCCTG[T/A]AGAAGTATGATTGCCATGTCAGATGTATCCTTTCTTCTTGAAAATCGTTCATTGATTCATTGATTCATTCATTTTCAGCGTAGTCCTTTTATTAATATAAATATTATTAATAATATTTATATCCATGGTCACCACAGCGGAATGAACCGCCAACTTATCCAGCACATATTTTACGCAGCGGATGGCCTTCCAGCTGCAACCCATCTCATGGGAAACATCCATACACACTCATTCACACTCATACACTACGGACAATTTAGCCTACCCAATTTACCTGTACCGCATGTCTTTGGAAACCTGAGCACCCAGAGGAAACCCACGTGAACGCAGGGAGAACATGCAACCTACATACAGAAATGCTAAGTGACCCAGCCGAGGCTTGAACCAGCGACCTTCTTGCTGTAAGGCGACAACTGTAGTAACTGTGCCACCGCGTCACCTTCTTGAAAATCATGTAAAACATAATTAGTAGTATTTGTGTTGTTAAGAAACCAGCTTTA
Associated Phenotype:
Not determined