Pdgfd,Ddi1 - SNV Details



 Gene Information 
Gene Name Pdgfd , Ddi1
Old Gene Names for Ddi1 1700011n24rik
Gene Description DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919079],platelet-derived growth factor, D polypeptide [Source:MGI Symbol;Acc:MGI:1919035]
Uniprot Name
CCDS Name
Gene GO
proteasomal ubiquitin-dependent protein catabolic process; nucleotide-excision repair; protein binding; damaged DNA binding; cellular_component; proteolysis; aspartic-type endopeptidase activity
platelet-derived growth factor receptor binding; membrane; positive regulation of cell division; cellular process; cellular response to amino acid stimulus; regulation of peptidyl-tyrosine phosphorylation; growth factor activity; extracellular space; multicellular organismal development
Homolog in other species PDGFD,DDI1
Omim http://omim.org/entry/609673,NO_OMIM
Immgen Expression
LOW
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000032006
Chromosome 9
Coordinate 6,265,760     (Assembly: GRCm38)    
Ref Base A
Codon Change aTg/aAg
Var Base T
Zygosity Heterozygous
Read Depth 14
Allele Frequency
A:R0.43
T:V0.57
Amino Acid Position 203
Amino Acid Change M->K (Methionine -> Lysine)
Sample ID IGL02260
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.05
Sift Prediction tolerated

 Availability Details 
Availability