Rpusd4 - SNV Details



 Gene Information 
Gene Name Rpusd4
Old Gene Names for Rpusd4 2410001e19rik
Gene Description RNA pseudouridylate synthase domain containing 4 [Source:MGI Symbol;Acc:MGI:1919239]
Uniprot Name
CCDS Name
Gene GO
mitochondrion; RNA binding; RNA modification; protein binding; pseudouridine synthesis; pseudouridine synthase activity
Homolog in other species RPUSD4
Immgen Expression
HIGH(LOWER IN GN.BM)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032044
Chromosome 9
Coordinate 35,268,424     (Assembly: GRCm38)    
Ref Base G
Codon Change cGg/cAg
Var Base A
Zygosity Heterozygous
Read Depth 28
Allele Frequency
G:R0.68
A:V0.32
Amino Acid Position 71
Amino Acid Change R->Q (Arginine -> Glutamine)
Sample ID IGL01780
Median Base Quality 38
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.94
Polyphen Prediction Possibly damaging
Sift Score 0.14
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved