Incidental Mutation 'IGL02859:Slc17a8'
ID362074
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 #IGL02859
Quality Score
Status
Chromosome10
Chromosomal Location89574020-89621253 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 89576584 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 329 (V329A)
Ref Sequence ENSEMBL: ENSMUSP00000100932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020102] [ENSMUST00000105295]
Predicted Effect probably benign
Transcript: ENSMUST00000020102
AA Change: V513A

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: V513A

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 benign
Transcript: ENSMUST00000105295
AA Change: V329A

PolyPhen 2 Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000100932
Gene: ENSMUSG00000019935
AA Change: V329A

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,267,699 Y637F possibly damaging Het
Abcc4 A G 14: 118,516,500 I1025T probably damaging Het
Adam22 C A 5: 8,167,375 R140L probably damaging Het
Ahdc1 C A 4: 133,062,692 L415I possibly damaging Het
Ahdc1 T A 4: 133,062,693 L415H probably damaging Het
Bivm C A 1: 44,136,999 S305* probably null Het
Clca4b C T 3: 144,912,039 D768N probably benign Het
Cobl T A 11: 12,369,602 N31Y probably damaging Het
Col4a5 G A X: 141,609,850 C484Y unknown Het
Ctnnd1 T C 2: 84,619,909 probably benign Het
Dnah5 A G 15: 28,383,625 T2998A probably benign Het
Dnah9 T A 11: 65,881,619 probably benign Het
F2 T C 2: 91,625,742 D558G probably damaging Het
Gle1 T A 2: 29,949,228 W511R probably damaging Het
Gm11564 C T 11: 99,815,127 S159N unknown Het
Htr6 A G 4: 139,074,434 C110R probably damaging Het
Ikbke T A 1: 131,270,197 S391C probably damaging Het
Itgae T C 11: 73,114,867 F286L probably damaging Het
Kcnb2 A T 1: 15,710,506 H534L probably damaging Het
Map1b T C 13: 99,433,036 Y1059C unknown Het
Mul1 A G 4: 138,438,349 T106A probably damaging Het
Nf2 T A 11: 4,791,209 E249V probably damaging Het
Nlrp1a T C 11: 71,106,086 S965G possibly damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr1084 T C 2: 86,639,648 N20S probably benign Het
Olfr583 T C 7: 103,052,138 V280A probably benign Het
Optc T C 1: 133,902,061 T204A probably damaging Het
Pcnx2 C T 8: 125,863,173 R787Q probably damaging Het
Pim1 G A 17: 29,491,935 E171K probably damaging Het
Pnpt1 T C 11: 29,138,162 V191A probably damaging Het
Rbbp8 G A 18: 11,738,614 R796Q probably benign Het
Serpinb9e A G 13: 33,251,650 D22G possibly damaging Het
Sit1 C T 4: 43,482,831 M109I probably benign Het
Smg1 T A 7: 118,148,933 probably benign Het
Snx7 T A 3: 117,829,671 probably benign Het
Stat2 A T 10: 128,276,611 E40V probably damaging Het
Vegfa C T 17: 46,024,495 S291N probably benign Het
Vmn1r61 G T 7: 5,611,289 L9I probably benign Het
Wbp4 T C 14: 79,470,689 K163E 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
IGL02638:Slc17a8 APN 10 89576603 nonsense probably null
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 On2015-12-18