Rgs9 - SNV Details

 Human Rare Diseases 

 Gene Information 
Gene Name Rgs9
Gene Description regulator of G-protein signaling 9 [Source:MGI Symbol;Acc:MGI:1338824]
MGI phenotype Mice homozygous for a targeted null mutation are viable and fertile; however, relative to wild-type, homozygous null photoreceptors display abnormally retarded recovery of their light responses, and slowed rates of GTP hydrolysis by transducin.
Uniprot Name
Gene GO
intracellular signal transduction; nervous system development; termination of G-protein coupled receptor signaling pathway; cytoplasm; regulation of G-protein coupled receptor protein signaling pathway; positive regulation of GTPase activity; heterotrimeric G-protein complex; dopamine receptor signaling pathway; response to estrogen; GTPase activator activity; nucleus; visual perception; G-protein coupled receptor signaling pathway; protein complex binding; plasma membrane; signal transducer activity
Homolog in other species RGS9
Omim http://omim.org/entry/607814
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020599
Chromosome 11
Coordinate 109,259,855     (Assembly: GRCm38)    
Ref Base G
Var Base A
Zygosity Heterozygous
Read Depth 27
Allele Frequency
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL03170
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 30 Other Mutations

Polyphen Score 0.17
Polyphen Prediction Benign

 Availability Details 
Availability Progeny Cryopreserved