Incidental Mutation 'IGL00516:Slc17a8'
ID4679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc17a8
Ensembl Gene ENSMUSG00000019935
Gene Namesolute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
SynonymsVglut3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00516
Quality Score
Status
Chromosome10
Chromosomal Location89574020-89621253 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 89591295 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 315 (K315E)
Ref Sequence ENSEMBL: ENSMUSP00000020102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020102] [ENSMUST00000105295]
Predicted Effect possibly damaging
Transcript: ENSMUST00000020102
AA Change: K315E

PolyPhen 2 Score 0.701 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: K315E

DomainStartEndE-ValueType
low complexity region 41 51 N/A INTRINSIC
internal_repeat_1 62 77 3.74e-7 PROSPERO
internal_repeat_1 75 90 3.74e-7 PROSPERO
Pfam:MFS_1 95 478 1e-46 PFAM
transmembrane domain 493 515 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000105295
AA Change: K131E

PolyPhen 2 Score 0.569 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000100932
Gene: ENSMUSG00000019935
AA Change: K131E

DomainStartEndE-ValueType
Pfam:MFS_1 1 294 1.1e-34 PFAM
transmembrane domain 309 331 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a vesicular glutamate transporter. The encoded protein transports the neurotransmitter glutamate into synaptic vesicles before it is released into the synaptic cleft. Mutations in this gene are the cause of autosomal-dominant nonsyndromic type 25 deafness. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit sensorineural hearing loss, cochlear ganglion degeneration, decreased synaptic glutamate release, and nonconvulsive seizures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730455P16Rik T C 11: 80,376,812 D91G possibly damaging Het
Abcc1 T A 16: 14,413,312 L438* probably null Het
Asph A T 4: 9,639,322 N14K probably damaging Het
Baz1b T C 5: 135,216,590 Y298H probably damaging Het
Ccdc66 A T 14: 27,498,456 W267R probably damaging Het
Cd81 A C 7: 143,067,164 K193N probably damaging Het
Cdkn1a C A 17: 29,098,520 A38E possibly damaging Het
Cflar T C 1: 58,732,310 I199T probably benign Het
Cmya5 A G 13: 93,098,167 S138P possibly damaging Het
Cnot1 T C 8: 95,726,079 N2123S probably damaging Het
Crybg3 A G 16: 59,530,440 S846P probably benign Het
Cyp2d9 A G 15: 82,455,094 I21M probably benign Het
Ddx41 T C 13: 55,532,467 T371A probably damaging Het
Dnhd1 A T 7: 105,657,211 I425F possibly damaging Het
Dsc1 T C 18: 20,101,886 D237G probably damaging Het
Emc1 T C 4: 139,355,082 probably benign Het
Epc1 T A 18: 6,450,515 D367V probably damaging Het
Glp1r A G 17: 30,925,558 Y235C probably damaging Het
Helb A G 10: 120,105,424 V453A probably damaging Het
Hras A G 7: 141,192,870 I24T possibly damaging Het
Hsf2 A T 10: 57,512,028 I423L probably benign Het
Igkv2-109 T A 6: 68,303,070 S92T probably benign Het
Kiss1r G A 10: 79,918,716 A15T possibly damaging Het
Krt79 T C 15: 101,940,166 S17G probably damaging Het
Lrrc14b T C 13: 74,360,959 D443G probably damaging Het
Map4k4 T A 1: 40,014,602 V953E probably damaging Het
Mybpc2 G A 7: 44,505,405 probably benign Het
Nadsyn1 T C 7: 143,812,793 E173G probably damaging Het
Neurl4 C T 11: 69,910,393 R1199W probably damaging Het
Otog T A 7: 46,251,282 V333E probably damaging Het
Pdcd2l A T 7: 34,184,821 probably null Het
Plagl1 A G 10: 13,127,872 probably benign Het
Rbm34 T C 8: 126,969,986 N122S probably benign Het
Shank2 A G 7: 144,410,775 K917E possibly damaging Het
Sp110 A C 1: 85,577,329 F434C probably benign Het
Sytl2 A G 7: 90,372,905 T183A probably benign Het
Tnik T A 3: 28,654,218 I1067N probably damaging Het
Tpd52l2 A G 2: 181,513,068 D192G probably damaging Het
Trhde A T 10: 114,446,199 I791N probably benign Het
Ttc28 A T 5: 111,225,688 N966Y probably damaging Het
Vps13b A T 15: 35,640,557 D1356V probably damaging Het
Zmym2 A G 14: 56,947,937 probably benign Het
Other mutations in Slc17a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Slc17a8 APN 10 89576530 missense probably benign 0.01
IGL01317:Slc17a8 APN 10 89620804 missense probably benign 0.02
IGL01339:Slc17a8 APN 10 89591244 missense probably damaging 1.00
IGL01468:Slc17a8 APN 10 89592021 critical splice donor site probably null
IGL02401:Slc17a8 APN 10 89576660 splice site probably null
IGL02638:Slc17a8 APN 10 89576603 nonsense probably null
IGL02859:Slc17a8 APN 10 89576584 missense probably benign 0.11
R0518:Slc17a8 UTSW 10 89576330 missense probably benign 0.00
R0521:Slc17a8 UTSW 10 89576330 missense probably benign 0.00
R0610:Slc17a8 UTSW 10 89576626 missense probably damaging 0.99
R0846:Slc17a8 UTSW 10 89606734 missense possibly damaging 0.81
R0928:Slc17a8 UTSW 10 89598683 missense probably damaging 1.00
R1277:Slc17a8 UTSW 10 89597457 missense possibly damaging 0.80
R1401:Slc17a8 UTSW 10 89591214 missense probably damaging 1.00
R1854:Slc17a8 UTSW 10 89606765 missense unknown
R1935:Slc17a8 UTSW 10 89577915 missense probably benign 0.03
R1936:Slc17a8 UTSW 10 89577915 missense probably benign 0.03
R3887:Slc17a8 UTSW 10 89591138 splice site probably benign
R4227:Slc17a8 UTSW 10 89598713 missense probably damaging 1.00
R4872:Slc17a8 UTSW 10 89576505 missense probably benign 0.38
R5023:Slc17a8 UTSW 10 89576560 missense probably benign 0.01
R5330:Slc17a8 UTSW 10 89589494 critical splice donor site probably null
R5331:Slc17a8 UTSW 10 89589494 critical splice donor site probably null
R5576:Slc17a8 UTSW 10 89597502 missense probably damaging 1.00
R5593:Slc17a8 UTSW 10 89606840 missense probably benign
R6035:Slc17a8 UTSW 10 89592075 missense possibly damaging 0.67
R6035:Slc17a8 UTSW 10 89592075 missense possibly damaging 0.67
R7038:Slc17a8 UTSW 10 89600221 missense probably benign 0.00
R7220:Slc17a8 UTSW 10 89576413 missense probably benign
R7514:Slc17a8 UTSW 10 89592107 missense probably damaging 1.00
R7574:Slc17a8 UTSW 10 89592146 missense probably benign 0.01
R7689:Slc17a8 UTSW 10 89597457 missense possibly damaging 0.80
X0021:Slc17a8 UTSW 10 89598682 missense probably damaging 1.00
X0067:Slc17a8 UTSW 10 89592912 nonsense probably null
Posted On2012-04-20