Crb1 - SNV Details



 Human Rare Diseases 
Retinitis pigmentosa
Pigmented paravenous retinochoroidal atrophy
Leber congenital amaurosis

 Gene Information 
Gene Name Crb1
Old Gene Names for Crb1 7530426h14rik , A930008g09rik
Gene Description crumbs homolog 1 (Drosophila) [Source:MGI Symbol;Acc:MGI:2136343]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; eye photoreceptor cell development; plasma membrane organization; protein binding; cellular membrane organization; microvillus; plasma membrane; calcium ion binding
Homolog in other species CRB1
Omim http://omim.org/entry/604210
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063681
Chromosome 1
Coordinate 139,248,475     (Assembly: GRCm38)    
Ref Base C
Codon Change tGc/tTc
Var Base A
Zygosity Heterozygous
Read Depth 37
Allele Frequency
C:R0.35
A:V0.65
Amino Acid Position 590
Amino Acid Change C->F (Cysteine -> Phenylalanine)
Sample ID IGL02411
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 43 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved