Eps15 - SNV Details



 Gene Information 
Gene Name Eps15
Old Gene Names for Eps15 2410112d09rik
Gene Description epidermal growth factor receptor pathway substrate 15 [Source:MGI Symbol;Acc:MGI:104583]
Uniprot Name
CCDS Name
Gene GO
cilium membrane; cytoplasm; coated pit; SH3 domain binding; protein transport; intracellular membrane-bounded organelle; protein binding; early endosome membrane; clathrin coat assembly; clathrin-coated vesicle; plasma membrane; calcium ion binding; endocytosis; AP-2 adaptor complex
Homolog in other species EPS15
Omim http://omim.org/entry/600051
Immgen Expression
HIGH(HIGHER IN MYELOID GROUP, DC GROUP, TGD GROUP)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000028552
Chromosome 4
Coordinate 109,366,473     (Assembly: GRCm38)    
Ref Base A
Codon Change aAc/aGc
Var Base G
Zygosity Heterozygous
Read Depth 60
Allele Frequency
A:R0.57
G:V0.43
Amino Acid Position 616
Amino Acid Change N->S (Asparagine -> Serine)
Sample ID IGL01642
Median Base Quality 38
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.81
Sift Prediction tolerated

 Availability Details 
Availability