2010001E11Rik - SNV Details



 Gene Information 
Gene Name 2010001e11rik
Gene Description RIKEN cDNA 2010001E11 gene [Source:MGI Symbol;Acc:MGI:1919295]
Uniprot Name
CCDS Name
Gene GO
integral to membrane; cellular_component; transmembrane transport; biological_process; molecular_function
Homolog in other species KIAA1919
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039339
Chromosome 10
Coordinate 39,921,475     (Assembly: GRCm38)    
Ref Base A
Codon Change Tgg/Agg
Var Base T
Zygosity Heterozygous
Read Depth 136
Allele Frequency
A:R0.53
T:V0.46
Amino Acid Position 295
Amino Acid Change W->R (Tryptophan -> Arginine)
Sample ID IGL01546
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 26 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000040384:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Major facilitator superfamily domain, general substrate transporter MFS_dom_general_subst_transpt IPR016196 ENSMUSP00000040384 Superfamily 1
358 Description available Search pathways
Major facilitator superfamily MFS IPR011701 ENSMUSP00000040384 Pfam 2
322 Description available Search pathways

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved