Rabep1 - SNV Details



 Gene Information 
Gene Name Rabep1
Old Gene Names for Rabep1 Aa409789 , Ai481320 , Av213537 , Aw240603
Gene Description rabaptin, RAB GTPase binding effector protein 1 [Source:MGI Symbol;Acc:MGI:1860236]
Uniprot Name
CCDS Name
Gene GO
early endosome; apoptotic process; protein transport; protein homodimerization activity; protein binding; GTPase activator activity; endosome; endocytic vesicle; growth factor activity; recycling endosome; endocytosis
Homolog in other species RABEP1
Omim http://omim.org/entry/603616
Immgen Expression
MEDIAN(LOW IN GN.BM)
Gnf Expression
MEDIAN(HIGH IN PREOPTIC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020817
Chromosome 11
Coordinate 70,934,559     (Assembly: GRCm38)    
Ref Base T
Codon Change cTa/cAa
Var Base A
Zygosity Heterozygous
Read Depth 34
Allele Frequency
T:R0.50
A:V0.50
Amino Acid Position 727
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL02022
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000075619:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Rabaptin, GTPase-Rab5 binding domain Rabaptin_Rab5-bd_dom IPR015390 ENSMUSP00000075619 Pfam 612
807 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved