Ralbp1 - SNV Details



 Gene Information 
Gene Name Ralbp1
Old Gene Names for Ralbp1 Rip1
Gene Description ralA binding protein 1 [Source:MGI Symbol;Acc:MGI:108466]
MGI phenotype Homozygous and heterozygous null mice display increased sensitivity to X-ray irradiation, increased oxidative stress, and impaired glutathione homeostasis.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; membrane; regulation of GTPase activity; positive regulation of Cdc42 GTPase activity; ATPase activity
coupled to movement of substances; signal transduction; intracellular; small GTPase mediated signal transduction; protein binding; GTPase activator activity; Ral GTPase binding; transport; Rac GTPase activator activity; ATP catabolic process; Rac GTPase binding
Homolog in other species RALBP1
Omim http://omim.org/entry/605801
Immgen Expression
HIGH
Gnf Expression
HIGH(HIGHER IN FERTILIZED EGG AND OOCYTES)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024096
Chromosome 17
Coordinate 65,864,282     (Assembly: GRCm38)    
Ref Base C
Codon Change cGg/cTg
Var Base A
Zygosity Heterozygous
Read Depth 65
Allele Frequency
C:R0.52
A:V0.48
Amino Acid Position 232
Amino Acid Change R->L (Arginine -> Leucine)
Sample ID IGL01318
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

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

 Availability Details 
Availability Progeny Cryopreserved