zgc:163030

Ensembl ID:
ENSDARG00000069192
ZFIN ID:
ZDB-GENE-060810-77
Description:
hypothetical protein LOC566959 [Source:RefSeq peptide;Acc:NP_001082882]
Human Orthologues:
CST1, CST11, CST2, CST3, CST4, CST5, CST8, CSTL1
Human Descriptions:
cystatin 11 [Source:HGNC Symbol;Acc:15959]
cystatin 8 (cystatin-related epididymal specific) [Source:HGNC Symbol;Acc:2480]
cystatin C [Source:HGNC Symbol;Acc:2475]
cystatin D [Source:HGNC Symbol;Acc:2477]
cystatin S [Source:HGNC Symbol;Acc:2476]
cystatin SA [Source:HGNC Symbol;Acc:2474]
cystatin SN [Source:HGNC Symbol;Acc:2473]
cystatin-like 1 [Source:HGNC Symbol;Acc:15958]
Mouse Orthologues:
Cst10, Cst11, Cst13, Cst3, Cst8, Cstl1
Mouse Descriptions:
cystatin 10 (chondrocytes) Gene [Source:MGI Symbol;Acc:MGI:1930004]
cystatin 11 Gene [Source:MGI Symbol;Acc:MGI:1925490]
cystatin 13 Gene [Source:MGI Symbol;Acc:MGI:1916544]
cystatin 8 (cystatin-related epididymal spermatogenic) Gene [Source:MGI Symbol;Acc:MGI:107161]
cystatin C Gene [Source:MGI Symbol;Acc:MGI:102519]
cystatin-like 1 Gene [Source:MGI Symbol;Acc:MGI:2652834]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa42245 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa42245
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000100504 Nonsense 48 128 1 3
ENSDART00000143945 Nonsense 48 111 1 2
Genomic Location (Zv9):
Chromosome 13 (position 33895964)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 33561944
GRCz11 13 33671489
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACAAAGAATCAAGACAAGCGTTAAAGTTTGCAATGACCCAGTACAACAAA[C/T]AAAACAGAGATGTGTATTTGTGTGATGTCTCTAAAATCATCAAGCTCCAA
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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