Eps8l2 - SNV Details



 Gene Information 
Gene Name Eps8l2
Old Gene Names for Eps8l2 Ai042819 , Aw545405
Gene Description EPS8-like 2 [Source:MGI Symbol;Acc:MGI:2138828]
Uniprot Name
CCDS Name
Gene GO
cytoplasm; protein binding; Rac protein signal transduction; ruffle; actin filament binding; plasma membrane
Homolog in other species EPS8L2
Omim http://omim.org/entry/614988
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
MEDIAN
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, UMBLICALCORD, DIGIS, EPIDERMIS TISSUES,TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000025504
Chromosome 7
Coordinate 141,361,601     (Assembly: GRCm38)    
Ref Base A
Codon Change gAg/gGg
Var Base G
Zygosity Heterozygous
Read Depth 68
Allele Frequency
A:R0.37
G:V0.63
Amino Acid Position 595
Amino Acid Change E->G (Glutamic acid -> Glycine)
Sample ID IGL01467
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.03
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000026577:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Src homology-3 domain SH3_domain IPR001452 ENSMUSP00000026577 Superfamily 435
596 Description available Search pathways

 Availability Details 
Availability Cryopreserved