ZMP

capns1a

Ensembl ID:

ENSDARG00000035329

ZFIN ID:

ZDB-GENE-030113-3

Description:

calpain, small subunit 1 a [Source:RefSeq peptide;Acc:NP_001017899]

Human Orthologue:

CAPNS1

Human Description:

calpain, small subunit 1 [Source:HGNC Symbol;Acc:1481]

Mouse Orthologues:

Capns1, Capns2

Mouse Descriptions:

calpain, small subunit 1 Gene [Source:MGI Symbol;Acc:MGI:88266]
calpain, small subunit 2 Gene [Source:MGI Symbol;Acc:MGI:1916793]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa6992	Essential Splice Site	Mutation detected in F1 DNA	Not yet available

Mutation Details

Allele Name:

sa6992

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:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000015240	None	None	216	None	10
ENSDART00000125653	None	None	156	None	7
ENSDART00000131339	Essential Splice Site	None	216	None	11

The following transcripts of ENSDARG00000035329 do not overlap with this mutation:

Genomic Location (Zv9):

Chromosome 5 (position 38255123)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	5	36054807
GRCz11	5	36654960

KASP Assay ID:

554-5167.1 (used for ordering genotyping assays)

KASP Sequence:

CATTGTACGTCGGCTGACGACGGTTTACAGTATCCACTGCTCTTTACTGG[T/A]GAGTTTAATCTGTCTGCGTGTTAAACAACGAGTTGAAAAGATATTTACAA

Long Flanking Sequence:

AGTCAAATAAACAGTGTTAATGTTGTTTTCAAGCCACACTTGCATGCTAATTCCAATCAAATATTCAAAGTAACATGTTAAACAATTTAGAGACTTCTAAATGAACGAATGTGTGAATCTAAAACCAACTTTACCTCTATCATGCCTGGCTTATCCTGTACAAACACATTTACATTTTCTTTATGAGTGAAAAGAAACATGTTGTCTTTGGAGCCTCAGAAATAAAGTGTGTAGCTGTATTTGTGAATTGTTGCAGTGCTTTTGTACTGATTTTGTATAATAATATGCAAACTAGAACTGATCATTCAGGTGTTGCGTCTTCCCCTCCTTTAATTCTTGGAAATGTGGGCTTGTCCTGCTCTGCGTTTTAGAATGTGGATTGGTGGTTTCTGTCTAGCTTTACGCTGCTTGCGTAAAGTACTTTAGAATCTGCGTATCCTGTCAGATGCGCATTGTACGTCGGCTGACGACGGTTTACAGTATCCACTGCTCTTTACTGG[T/A]GAGTTTAATCTGTCTGCGTGTTAAACAACGAGTTGAAAAGATATTTACAAGTGTCGTAACAAATATATATTGTGTGGTAAATTGTATAACCTGCAGTTTTTACTTGATTTAATGCGGTCATCTTAGGGTAGCTTGTTTAGCGTGTTAGCATGTTTTACTCGCATCCAATTTTAGTTGAGCTTCCAAAAACGCTCATATTTAGCTCACTAATTTCTTTGTTTTACTTACCAAGCATTTTAAATAAGGATGATCAAACACTATTATCGGAAAATGTCAGCTGACAGCAAAAGCAGCAAGATAGGTCGACTGTTTACTGTGATTGCGCTTGCAAAACATCCCAAACACGCCAGATTTCTAACATTCAATCTGTTGCTACAAGTAGCGTTAGTTCTGGAGTATTACACGCCGTTCAATGCAAGCTTCGCGTTGAAAAAGTATGCTGTTTTTCTTGTGGTTTAATCGTGGGTGGTGTTGTATAATGGATGGGAAACATACTTACA

Associated Phenotype:

Not determined