crygmxl2

Ensembl ID:
ENSDARG00000074001
ZFIN ID:
ZDB-GENE-050522-401
Description:
gamma crystallin-like [Source:RefSeq peptide;Acc:NP_001019598]
Human Orthologues:
CRYGA, CRYGB, CRYGC, CRYGD
Human Descriptions:
crystallin, gamma A [Source:HGNC Symbol;Acc:2408]
crystallin, gamma B [Source:HGNC Symbol;Acc:2409]
crystallin, gamma C [Source:HGNC Symbol;Acc:2410]
crystallin, gamma D [Source:HGNC Symbol;Acc:2411]
Mouse Orthologues:
Cryga, Crygb, Crygc, Crygd, Cryge, Crygf
Mouse Descriptions:
crystallin, gamma A Gene [Source:MGI Symbol;Acc:MGI:88521]
crystallin, gamma B Gene [Source:MGI Symbol;Acc:MGI:88522]
crystallin, gamma C Gene [Source:MGI Symbol;Acc:MGI:88523]
crystallin, gamma D Gene [Source:MGI Symbol;Acc:MGI:88524]
crystallin, gamma E Gene [Source:MGI Symbol;Acc:MGI:88525]
crystallin, gamma F Gene [Source:MGI Symbol;Acc:MGI:88526]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa7703 Nonsense Mutation detected in F1 DNA During 2014
sa8929 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa7703
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 2014.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075983 Nonsense 7 176 2 3
ENSDART00000146367 None None 138 2 3

The following transcripts of ENSDARG00000074001 do not overlap with this mutation:

Genomic Location:
Chromosome 12 (position 32530944)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCACTGTACCTTCTCTAATCACCATCTTTCTGTGGTCAGATTGTCTTCTA[C/A]GAAGGCCGCAACTTCCAGGGCCGCTCTTACGAGTGCTCCTCTGACTGCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8929
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 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075983 Nonsense 48 176 2 3
ENSDART00000146367 Nonsense 10 138 2 3

The following transcripts of ENSDARG00000074001 do not overlap with this mutation:

Genomic Location:
Chromosome 12 (position 32530823)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
ACTGCTGTAACTCCATCCGTGTCATGGGAGGTCACTGGGTGGGTTACGAG[A/T]AGCCCAACTTCATGGGCTRTCAGTACGTCCTGGGCCGTGGGGAGTACCCT
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/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/eyep4ozn