Slc22a3 - SNV Details



 Gene Information 
Gene Name Slc22a3
Gene Description solute carrier family 22 (organic cation transporter), member 3 [Source:MGI Symbol;Acc:MGI:1333817]
MGI phenotype Mice homozygous for disruptions in this gene display a normal phenotype.
Uniprot Name
CCDS Name
Gene GO
histamine transport; integral to membrane; toxin transporter activity; dopamine transmembrane transporter activity; organic cation transmembrane transporter activity; ion transmembrane transport; monoamine transport; organic cation transport; integral to plasma membrane; protein binding; ion transmembrane transporter activity; quaternary ammonium group transport; transmembrane transporter activity; quaternary ammonium group transmembrane transporter activity; histamine uptake; transmembrane transport; regulation of appetite; dopamine transport
Homolog in other species SLC22A3
Omim http://omim.org/entry/604842
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000023828
Chromosome 17
Coordinate 12,458,492     (Assembly: GRCm38)    
Ref Base T
Codon Change cAg/cGg
Var Base C
Zygosity Heterozygous
Read Depth 19
Allele Frequency
T:R0.63
C:V0.37
Amino Acid Position 263
Amino Acid Change Q->R (Glutamine -> Arginine)
Sample ID IGL01621
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Polyphen Score 0.89
Polyphen Prediction Possibly damaging
Sift Score 1
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000024595:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Major facilitator superfamily MFS IPR011701 ENSMUSP00000024595 Pfam 154
382 Description available Search pathways
Major facilitator superfamily domain MFS_dom IPR020846 ENSMUSP00000024595 Prosite_profiles 94
517 Description available Search pathways
General substrate transporter Sub_transporter IPR005828 ENSMUSP00000024595 Pfam 150
522 Description available Search pathways
Major facilitator superfamily domain, general substrate transporter MFS_dom_general_subst_transpt IPR016196 ENSMUSP00000024595 Superfamily 1
529 Description available Search pathways

 Availability Details 
Availability Cryopreserved