Slc17a6 - SNV Details



 Gene Information 
Gene Name Slc17a6
Old Gene Names for Slc17a6 2900073d12rik
Gene Description solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 [Source:MGI Symbol;Acc:MGI:2156052]
MGI phenotype Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain.
Uniprot Name
CCDS Name
Gene GO
early endosome; integral to membrane; synaptic vesicle membrane; cell junction; synaptic vesicle; neurotransmitter uptake; L-glutamate transmembrane transporter activity; transmembrane transport; neuron projection; sodium ion transport; symporter activity
Homolog in other species SLC17A6
Omim http://omim.org/entry/607563
Immgen Expression
LOW
Gnf Expression
MEDIAN(HIGH IN NS GROUP, C2C12, UMBLICALCORD, NIH.3T3, OSTEO GROUP, EPITH GROUP, TRACHEA, PROSTATE, LUNG, BLADDER, UTERUS, OVARY, ADIPOSETISSUE, ADRENALGLAND)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030500
Chromosome 7
Coordinate 51,667,470     (Assembly: GRCm38)    
Ref Base T
Codon Change aTc/aAc
Var Base A
Zygosity Heterozygous
Read Depth 37
Allele Frequency
T:R0.68
A:V0.32
Amino Acid Position 413
Amino Acid Change I->N (Isoleucine -> Asparagine)
Sample ID IGL02212
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Polyphen Score 0.98
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000032710:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Major facilitator superfamily domain MFS_dom IPR020846 ENSMUSP00000032710 Prosite_profiles 70
502 Description available Search pathways
Major facilitator superfamily domain, general substrate transporter MFS_dom_general_subst_transpt IPR016196 ENSMUSP00000032710 Superfamily 32
515 Description available Search pathways
Major facilitator superfamily MFS IPR011701 ENSMUSP00000032710 Pfam 80
460 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved