Sh3bp4 - SNV Details



 Gene Information 
Gene Name Sh3bp4
Old Gene Names for Sh3bp4 Ai594717 , Aw227605
Gene Description SH3-domain binding protein 4 [Source:MGI Symbol;Acc:MGI:2138297]
Uniprot Name
CCDS Name
Gene GO
coated pit; protein binding; nucleus; cellular_component; clathrin-coated vesicle; biological_process; endocytosis; molecular_function
Homolog in other species SH3BP4
Omim http://omim.org/entry/605611
Immgen Expression
MEDIAN(HIGH IN DC GROUP)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000036206
Chromosome 1
Coordinate 89,143,960     (Assembly: GRCm38)    
Ref Base C
Codon Change Cag/Aag
Var Base A
Zygosity Heterozygous
Read Depth 39
Allele Frequency
C:R0.38
A:V0.62
Amino Acid Position 177
Amino Acid Change Q->K (Glutamine -> Lysine)
Sample ID IGL01062
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 44 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.29
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved