Incidental Mutation 'IGL02638:Slc17a8'
ID301595
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 #IGL02638
Quality Score
Status
Chromosome10
Chromosomal Location89574020-89621253 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 89576603 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Stop codon at position 323 (G323*)
Ref Sequence ENSEMBL: ENSMUSP00000100932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020102] [ENSMUST00000105295]
Predicted Effect probably null
Transcript: ENSMUST00000020102
AA Change: G507*
SMART Domains Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: G507*

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 probably null
Transcript: ENSMUST00000105295
AA Change: G323*
SMART Domains Protein: ENSMUSP00000100932
Gene: ENSMUSG00000019935
AA Change: G323*

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik A T 9: 22,430,479 K149* probably null Het
A830010M20Rik T C 5: 107,508,556 V895A possibly damaging Het
Alkbh3 T A 2: 94,008,113 T38S probably benign Het
BC055324 G A 1: 163,959,299 Q734* probably null Het
Cdkn2c A G 4: 109,665,012 probably benign Het
Clca4b A C 3: 144,926,178 C189G probably damaging Het
Clec4f T A 6: 83,652,700 N292I possibly damaging Het
Dkk3 A C 7: 112,149,027 S123R probably benign Het
Dock1 C T 7: 135,146,480 A1557V probably benign Het
E130308A19Rik C T 4: 59,719,676 Q403* probably null Het
F5 G A 1: 164,184,608 probably null Het
Fam98c T A 7: 29,152,762 D326V probably damaging Het
Frem2 A C 3: 53,551,346 V2034G possibly damaging Het
Galnt2 G A 8: 124,231,579 G18D probably damaging Het
Gm8394 T C 10: 85,313,834 noncoding transcript Het
Grhl3 T C 4: 135,556,865 E222G probably benign Het
Hif3a A C 7: 17,044,368 probably benign Het
Ibtk C T 9: 85,719,893 G755D probably damaging Het
Laptm4b A G 15: 34,277,484 N187S probably benign Het
Lrba A G 3: 86,325,073 T776A probably damaging Het
Mfhas1 T A 8: 35,590,950 W860R possibly damaging Het
Mon2 A C 10: 123,023,939 W811G probably damaging Het
Nupl2 A G 5: 24,175,507 T167A probably benign Het
Olfr1062 T C 2: 86,423,677 probably null Het
Olfr1128 T C 2: 87,544,749 Y265C probably damaging Het
Olfr1295 T C 2: 111,564,904 D180G probably damaging Het
Olfr30 C A 11: 58,455,047 A301S probably damaging Het
Olfr418 A G 1: 173,270,331 D52G probably benign Het
Pgap2 T C 7: 102,237,422 L217P probably damaging Het
Pik3c2b T G 1: 133,077,318 probably benign Het
Ppfia3 T A 7: 45,356,668 D149V probably damaging Het
Prkcb C T 7: 122,600,840 probably benign Het
Prl A G 13: 27,061,579 D97G probably benign Het
Rnf112 T C 11: 61,449,405 probably benign Het
Snx19 T C 9: 30,432,364 F607L possibly damaging Het
Suco A G 1: 161,827,687 S1079P probably damaging Het
Taf5 T C 19: 47,068,210 L149P probably benign Het
Taf6l T C 19: 8,775,266 M379V probably benign Het
Tcf25 T C 8: 123,399,292 F558L probably damaging Het
Tlcd1 T C 11: 78,179,618 V102A probably benign Het
Tmc5 G T 7: 118,627,233 A274S probably benign Het
Toporsl C T 4: 52,611,624 H506Y probably benign Het
Ubtd1 T C 19: 42,033,670 L127P possibly damaging Het
Usp24 A C 4: 106,438,770 probably benign Het
Usp24 C A 4: 106,438,772 probably benign Het
Usp43 T G 11: 67,855,755 D1042A probably benign Het
Whrn T C 4: 63,419,472 T48A possibly damaging Het
Wnt2b A G 3: 104,954,716 I102T probably benign Het
Zfp763 T C 17: 33,019,934 D79G probably benign Het
Zmat4 A G 8: 23,797,373 Y45C probably damaging Het
Other mutations in Slc17a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Slc17a8 APN 10 89591295 missense possibly damaging 0.70
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
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 On2015-04-16