D630045J12Rik - SNV Details



 Gene Information 
Gene Name D630045j12rik
Gene Description RIKEN cDNA D630045J12 gene [Source:MGI Symbol;Acc:MGI:2669829]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cellular_component; biological_process; molecular_function
Homolog in other species KIAA1549
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000063455
Chromosome 6
Coordinate 38,196,394     (Assembly: GRCm38)    
Ref Base T
Codon Change Atg/Ttg
Var Base A
Zygosity Heterozygous
Read Depth 13
Allele Frequency
T:R0.54
A:V0.46
Amino Acid Position 280
Amino Acid Change M->L (Methionine -> Leucine)
Sample ID IGL02238
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 1
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Line Propagating