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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch211-160d20.1
- Ensembl ID:
- ENSDARG00000010758
- ZFIN ID:
- ZDB-GENE-050419-245
- Description:
- hypothetical protein LOC799247 [Source:RefSeq peptide;Acc:NP_001076532]
- Human Orthologues:
- CAPN5, CAPN6
- Human Descriptions:
- calpain 5 [Source:HGNC Symbol;Acc:1482]
- calpain 6 [Source:HGNC Symbol;Acc:1483]
- Mouse Orthologues:
- Capn5, Capn6
- Mouse Descriptions:
- calpain 5 Gene [Source:MGI Symbol;Acc:MGI:1100859]
- calpain 6 Gene [Source:MGI Symbol;Acc:MGI:1100850]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa43148 | Nonsense | Mutation detected in F1 DNA | During 2018 |
| sa11881 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
- Allele Name:
- sa43148
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- G > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000098972 | Nonsense | 158 | 685 | 4 | 21 |
| ENSDART00000128707 | Nonsense | 158 | 717 | 4 | 21 |
- Genomic Location (Zv9):
- Chromosome 18 (position 35022925)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 36702081 GRCz11 18 36683089 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TGCCTGTGAGAGAGGGCCGTCTGCTTTTCAGCTACTCTCGCACCAGCAAC[G/T]AGTTCTGGAGCGCCCTGGTGGAGAAAGCTTATGCCAAGTCAGTTCCAGCA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa11881
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
-
Order Allele From ZIRC
Order Allele From EZRC - Mutation:
- T > C
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000098972 | Essential Splice Site | 498 | 685 | 12 | 21 |
| ENSDART00000128707 | Essential Splice Site | 530 | 717 | 12 | 21 |
- Genomic Location (Zv9):
- Chromosome 18 (position 35042089)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 18 36721245 GRCz11 18 36702253 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- AGGGGGAGTTTTTCCTCCGCATTTACACCAAAACTGGCAACWTACAAGGG[T/C]ATGCAGAATCACAAACAAACATCAGCTCTRAGTTTTGATTGCAGCTTAAT
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Cognitive performance: A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
Register
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