ZMP
zgc:55262
Ensembl ID:
ZFIN ID:
Description:
calpain 1, large subunit [Source:RefSeq peptide;Acc:NP_998624]
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 |
|---|---|---|---|
| sa20857 | Essential Splice Site | Available for shipment | Available now |
| sa34003 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20857
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002949 | Essential Splice Site | 85 | 703 | 3 | 21 |
| ENSDART00000077071 | Essential Splice Site | 85 | 701 | 3 | 23 |
| ENSDART00000113658 | Essential Splice Site | 85 | 704 | 3 | 22 |
Genomic Location (Zv9):
Chromosome 7 (position 7536557)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 6595895 |
| GRCz11 | 7 | 6731593 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGGAATTGCTCAGGTATAGATGTAATGTAGCTGTGTTTGTGTTTCTTCA[G/A]GAAATGTGTGCGCGTCCTCAGTTTATCGTGGATGGAGCCACTCGCACAGA
Long Flanking Sequence:
ACGATTATATTTGATTTTCCAAAGTCACACAAGTGGCAATTTCACATCAGTCACATCCATAATGGAGATATGTCACATCCATAACGACACTTTTCCCTCATAAATGCAAAAATGTCAAATAAACTAAACTCAGTCATGTTTGTCCTATAGTGAGCCGACTCTTATCCTGTAGATTAACATCGTTTCTTTTGGGTTGTGCAGTTTAATTCACAGAATTTCTACAAAGTATACCTTATACTGTAAACTCACAGAATTTTTTGGTCACATCCATAAGGCACTTTTATTTTCCTCATTTAAAACCTAAAAGTTGTTCACAGATTGATATATTTCTGCTCTGTGGCTAGTTGTTTTGAAAAATAGAAAGAGATGTTTCAGTATAATGCTAACAACATATACTTTCTTTGTGAATTTATGTTTTGAGTTTTTACTGCAAATGTCACATCCATAGCGCTGGAATTGCTCAGGTATAGATGTAATGTAGCTGTGTTTGTGTTTCTTCA[G/A]GAAATGTGTGCGCGTCCTCAGTTTATCGTGGATGGAGCCACTCGCACAGACATCTGTCAGGGAGCGCTGGGTGAGTCAGGAATTCACCACACACACACACACTTTACCACAGTTCAGCACACACAACCCTTTACCACAGTACACACCACTCTACAACCTCAGTTTACTTCAAACATTCTCCAGACCAGAGAACAAGAGATTCTGGAAACGGTTTCCCGCTTGCTCACACACTCACTCAATCTGTCTTAATGTGGATTTCCCAGAGACGTAATATAAATATATATATATATATATATAAGGAATGCCACGGTTCTCAATATAATATTGAACTGTACGGTATGACCTCCACGGTTCAATACGCGCTTGTGAATTGCGGTTTTCTCGGTTTTGTGTTTAAATAATTTATGTGCGCTTTATATCTCTCCAAATTGATTGTATGCCTTTAAAACCATGAGCTGAGATCAGGAAACTCCTCCCCGTGTGTAAATATCCAATCACTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa34003
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000002949 | Nonsense | 423 | 703 | 11 | 21 |
| ENSDART00000077071 | Nonsense | 421 | 701 | 13 | 23 |
| ENSDART00000113658 | Nonsense | 423 | 704 | 11 | 22 |
Genomic Location (Zv9):
Chromosome 7 (position 7507934)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 6567272 |
| GRCz11 | 7 | 6702970 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTGCAGCTTCCTGGTGGCGCTGATGCAGAAGGACCGCAGGAAGAAGAGA[A/T]GAGAAGGGCAGGACATGGAGACTATCGGATTCGCCATTTATGAGGTCAGA
Long Flanking Sequence:
TCATCCACCACCAGTGTGCAGCATCCACCTGGATGACGCGATAGCAGCCATTTTGCGCCAGACCGCACACCACACACCAGCTGATTGGTGGAGAGGAGACAGTGTGATGAAGCCAGTTATGATATGGGGAGGGTTAGGAGGCCATGATGGACAGAGGCCAGTGGGCAGATTTGGCCAGGATGCCGGGGTTAAACCCCTACTCTTTTTCGAAGGACATCCTGGGATTTTTAACGACCAAAGAGAGTCGGGACCTCGGTTTAACAACTCATCCGAAAGATTGTGTTGTTGCCGAAGTTTTCCCTACGCTATGGACGCTTTTCACATTCACGAGTTTCACAGTAGCAGAAGTCATCATAGTTGGTTCAAAATCTTTTCTTCCCACAGCAACATTCTGGATCAACCCGCAGTTCAAGGTGGCCCTGAAACACCCGGATTCTCCCGGCCAATCAGAGTGCAGCTTCCTGGTGGCGCTGATGCAGAAGGACCGCAGGAAGAAGAGA[A/T]GAGAAGGGCAGGACATGGAGACTATCGGATTCGCCATTTATGAGGTCAGAGAGCAGACCGCTTCTCATTTACTCATCTAAAAATGTGTTACTTTTAGTTCAGTTGCTCATTCTCTGATTTTCCAATTTTTTTTAGGTGCCAAGAGAGGTGAGGAGAGCTGACCATGGCTTTTTAAAATCACGTCAACAGATAAACATTTCTACAGCTCTTCATACAACACAGATTGTGTTAACAAGGCTGTATAAAATGTGAAATGATTCAGATTTTGGAAAATAAGCAAGCAAGTGAGTGAGGAATATTTGTCATCATAGAAAGCACCTAGCAACCACACAGAAAACCCTAAAAATATTTATAAAATGTAGTATTAATAATTGAGAACAGCTGAATAACCACAGCTTATAAATAGCAATAGCCTACAAATGCCCTGTGAACAGTTCAGAACACCTTAGTAATGATGTATCATGTATATCCACATAGCTATCACACAAAACGTTAGCAAC
Associated Phenotype:
Not determined