Rpgrip1 - SNV Details



 Human Rare Diseases 
Leber congenital amaurosis
Cone rod dystrophy
Meckel syndrome

 Gene Information 
Gene Name Rpgrip1
Old Gene Names for Rpgrip1 4930505g06rik , 4930401l23rik , A930002k18rik , Aa415034
Gene Description retinitis pigmentosa GTPase regulator interacting protein 1 [Source:MGI Symbol;Acc:MGI:1932134]
MGI phenotype Homozygous mutation of this gene results in photoreceptor cell dysmorphology. By 3 months of age mutant animals show near complete loss of photoreceptor cells.
Uniprot Name
CCDS Name
Gene GO
axoneme; cilium; response to stimulus; retina development in camera-type eye; eye photoreceptor cell development; protein binding; visual perception
Homolog in other species RPGRIP1
Omim http://omim.org/entry/605446
Immgen Expression
MEDIAN(HIGH IN BCELL GROUP, DC.PDC.8-.SP, DC.PDC.8+.SP)
Gnf Expression
MEDIAN
HIGH
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000057132
Chromosome 14
Coordinate 52,131,309     (Assembly: GRCm38)    
Ref Base A
Codon Change Aat/Gat
Var Base G
Zygosity Heterozygous
Read Depth 16
Allele Frequency
A:R0.50
G:V0.50
Amino Acid Position 278
Amino Acid Change Disrupted splicing
Splice Position 4
Sample ID IGL02234
Median Base Quality 39.5
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 42 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved