Fcho2 - SNV Details



 Gene Information 
Gene Name Fcho2
Old Gene Names for Fcho2 Aa387320 , 5832424m12rik
Gene Description FCH domain only 2 [Source:MGI Symbol;Acc:MGI:3505790]
Uniprot Name
CCDS Name
Gene GO
coated pit; protein binding; phosphatidylserine binding; clathrin coat assembly; phosphatidylinositol binding; clathrin-coated vesicle; phosphatidylinositol-4
5-bisphosphate binding; clathrin-mediated endocytosis; plasma membrane; protein localization to plasma membrane; membrane invagination
Homolog in other species FCHO2
Omim http://omim.org/entry/613438
Immgen Expression
MEDIAN/HIGH(HIGH IN BCELL GROUP, MYELOID GROUP, DC GROUP)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000041685
Chromosome 13
Coordinate 98,730,212     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 27
Allele Frequency
A:R0.52
G:V0.48
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL02516
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 64 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved