Incidental Mutation 'R7574:Slc17a8'
ID 586248
Institutional Source Beutler Lab
Gene Symbol Slc17a8
Ensembl Gene ENSMUSG00000019935
Gene Name solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8
Synonyms Vglut3, Vgt3
MMRRC Submission 045660-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7574 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 89409882-89457111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89428008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 273 (I273T)
Ref Sequence ENSEMBL: ENSMUSP00000020102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020102] [ENSMUST00000105295]
AlphaFold Q8BFU8
Predicted Effect probably benign
Transcript: ENSMUST00000020102
AA Change: I273T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: I273T

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: I89T

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000100932
Gene: ENSMUSG00000019935
AA Change: I89T

DomainStartEndE-ValueType
Pfam:MFS_1 1 294 1.1e-34 PFAM
transmembrane domain 309 331 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T C 13: 119,606,478 (GRCm39) V240A probably damaging Het
A930009A15Rik C T 10: 115,406,019 (GRCm39) probably benign Het
Aarsd1 A G 11: 101,301,970 (GRCm39) I201T probably damaging Het
Acaca T A 11: 84,152,414 (GRCm39) Y854N probably benign Het
Adra2c T C 5: 35,437,759 (GRCm39) L177P probably damaging Het
Akr1c12 A T 13: 4,329,309 (GRCm39) I16N probably damaging Het
Aldh8a1 A T 10: 21,256,729 (GRCm39) I47F possibly damaging Het
Birc6 A G 17: 74,886,879 (GRCm39) I736V probably benign Het
Bmp2 A T 2: 133,402,817 (GRCm39) M123L probably benign Het
C1ql1 T C 11: 102,836,812 (GRCm39) Y159C probably damaging Het
Ccdc148 T C 2: 58,713,645 (GRCm39) Y502C probably damaging Het
Ccdc168 A T 1: 44,098,593 (GRCm39) V835E possibly damaging Het
Cenpf A T 1: 189,390,864 (GRCm39) N989K probably damaging Het
Ciz1 A G 2: 32,257,380 (GRCm39) M142V probably benign Het
Cnot4 T C 6: 35,029,939 (GRCm39) R320G possibly damaging Het
Cyth1 G T 11: 118,073,689 (GRCm39) H215N probably damaging Het
Dapk1 G A 13: 60,908,987 (GRCm39) G1200D probably damaging Het
Dhps A G 8: 85,799,181 (GRCm39) Y103C probably damaging Het
Dnah1 T A 14: 31,041,865 (GRCm39) E35D probably benign Het
Dnajb9 A T 12: 44,254,169 (GRCm39) D79E probably damaging Het
Eif4a2 T C 16: 22,928,877 (GRCm39) F164S probably benign Het
Enpp2 T C 15: 54,714,813 (GRCm39) T595A probably benign Het
Exoc6b T A 6: 84,768,366 (GRCm39) probably null Het
Fam171a1 T C 2: 3,221,391 (GRCm39) S286P probably damaging Het
Fermt2 T A 14: 45,706,782 (GRCm39) N338I probably damaging Het
Fhdc1 A G 3: 84,353,438 (GRCm39) F596L probably benign Het
Fry T C 5: 150,304,359 (GRCm39) V583A probably benign Het
Gbp10 G A 5: 105,384,015 (GRCm39) probably benign Het
Gdap1 T A 1: 17,231,665 (GRCm39) F337I possibly damaging Het
Git2 C T 5: 114,904,550 (GRCm39) R123H probably damaging Het
Gpr6 A T 10: 40,946,652 (GRCm39) I310N possibly damaging Het
Gpsm2 G A 3: 108,608,061 (GRCm39) A239V probably damaging Het
Hexa T C 9: 59,471,267 (GRCm39) V507A probably benign Het
Hmcn2 A T 2: 31,345,531 (GRCm39) H4718L possibly damaging Het
Hrh4 T C 18: 13,154,970 (GRCm39) F170L possibly damaging Het
Ica1 T C 6: 8,658,266 (GRCm39) T284A probably benign Het
Itga5 T C 15: 103,258,876 (GRCm39) N774S probably damaging Het
Itgb2 T C 10: 77,395,992 (GRCm39) S556P probably benign Het
Kash5 A T 7: 44,854,035 (GRCm39) H31Q possibly damaging Het
Kcnq4 A G 4: 120,568,565 (GRCm39) F384L probably benign Het
Lama2 A T 10: 26,882,726 (GRCm39) N2612K probably benign Het
Lnx1 T C 5: 74,846,099 (GRCm39) E117G probably benign Het
Lrrc14b G T 13: 74,508,892 (GRCm39) A505E probably damaging Het
Ly6g T C 15: 75,030,413 (GRCm39) I77T probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mrgpre C T 7: 143,335,087 (GRCm39) V139M probably damaging Het
Muc4 T A 16: 32,753,411 (GRCm38) S1096T probably benign Het
Myrfl G A 10: 116,667,430 (GRCm39) R337* probably null Het
Ndufa4 C T 6: 11,906,092 (GRCm39) V20I probably benign Het
Nf1 A G 11: 79,299,595 (GRCm39) D241G probably null Het
Nid1 A G 13: 13,643,028 (GRCm39) D322G probably benign Het
Nova1 A T 12: 46,747,544 (GRCm39) D244E unknown Het
Or11g27 T A 14: 50,771,770 (GRCm39) D300E probably benign Het
Or4a68 T C 2: 89,269,745 (GRCm39) K293E possibly damaging Het
Or5m10b A G 2: 85,699,350 (GRCm39) K138R probably benign Het
Padi2 C A 4: 140,676,648 (GRCm39) N595K possibly damaging Het
Pag1 A G 3: 9,758,951 (GRCm39) I389T probably damaging Het
Pcdh10 G T 3: 45,335,810 (GRCm39) G708V possibly damaging Het
Pecam1 A G 11: 106,590,610 (GRCm39) S55P probably damaging Het
Plin3 A T 17: 56,591,192 (GRCm39) V196E possibly damaging Het
Plxdc1 A T 11: 97,847,316 (GRCm39) L119Q possibly damaging Het
Pnliprp1 A T 19: 58,726,681 (GRCm39) N346I probably damaging Het
Ppp1r27 A T 11: 120,441,856 (GRCm39) Y8* probably null Het
Prg3 A T 2: 84,819,746 (GRCm39) D80V probably damaging Het
Prmt5 T C 14: 54,745,347 (GRCm39) N607D possibly damaging Het
Ptprs A G 17: 56,730,538 (GRCm39) F1144L probably benign Het
Rai14 C T 15: 10,593,189 (GRCm39) G152R probably damaging Het
Rap1gds1 T A 3: 138,661,976 (GRCm39) R427* probably null Het
Recql5 A G 11: 115,819,248 (GRCm39) V106A probably benign Het
Resp18 T C 1: 75,250,615 (GRCm39) T155A probably benign Het
Rfx6 A G 10: 51,557,914 (GRCm39) D129G probably benign Het
Rsf1 T A 7: 97,310,374 (GRCm39) I368K Het
Sema6a C G 18: 47,424,231 (GRCm39) V226L probably damaging Het
Sf1 A G 19: 6,422,234 (GRCm39) E220G probably damaging Het
Shld2 C T 14: 33,959,423 (GRCm39) S853N probably damaging Het
Sidt1 T A 16: 44,079,848 (GRCm39) Y602F probably damaging Het
Slc28a2b A T 2: 122,353,325 (GRCm39) I502F not run Het
Slc41a1 A T 1: 131,766,889 (GRCm39) I136F probably damaging Het
Snrpb T C 2: 130,018,939 (GRCm39) I51V probably benign Het
Sprr2f T A 3: 92,273,254 (GRCm39) C18S unknown Het
Stab1 T C 14: 30,876,622 (GRCm39) N864S probably benign Het
Svil C A 18: 5,095,188 (GRCm39) T1457K probably benign Het
Syt1 A T 10: 108,340,262 (GRCm39) I352N probably damaging Het
Tas2r119 A G 15: 32,178,279 (GRCm39) K282E probably damaging Het
Timeless T C 10: 128,080,538 (GRCm39) F473S probably damaging Het
Tmc3 A G 7: 83,247,481 (GRCm39) D192G probably damaging Het
Trmt1l T A 1: 151,316,591 (GRCm39) I184N possibly damaging Het
Ttll6 G A 11: 96,025,701 (GRCm39) V61M probably damaging Het
Ttn C T 2: 76,632,755 (GRCm39) E14100K probably damaging Het
Txndc2 T A 17: 65,945,620 (GRCm39) I186F possibly damaging Het
Ubr1 A T 2: 120,703,672 (GRCm39) S1553T possibly damaging Het
Vmn1r208 T C 13: 22,956,705 (GRCm39) N264S probably benign Het
Vmn1r87 T A 7: 12,865,613 (GRCm39) M225L probably benign Het
Vmn2r101 T A 17: 19,831,899 (GRCm39) C632S possibly damaging Het
Wdr97 T A 15: 76,241,949 (GRCm39) Y747* probably null Het
Zfp474 T C 18: 52,772,261 (GRCm39) S305P probably benign Het
Zfp59 A G 7: 27,552,863 (GRCm39) N105S probably benign Het
Zfp804b T A 5: 6,822,301 (GRCm39) Y254F possibly damaging Het
Other mutations in Slc17a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Slc17a8 APN 10 89,427,157 (GRCm39) missense possibly damaging 0.70
IGL00990:Slc17a8 APN 10 89,412,392 (GRCm39) missense probably benign 0.01
IGL01317:Slc17a8 APN 10 89,456,666 (GRCm39) missense probably benign 0.02
IGL01339:Slc17a8 APN 10 89,427,106 (GRCm39) missense probably damaging 1.00
IGL01468:Slc17a8 APN 10 89,427,883 (GRCm39) critical splice donor site probably null
IGL02401:Slc17a8 APN 10 89,412,522 (GRCm39) splice site probably null
IGL02638:Slc17a8 APN 10 89,412,465 (GRCm39) nonsense probably null
IGL02859:Slc17a8 APN 10 89,412,446 (GRCm39) missense probably benign 0.11
R0518:Slc17a8 UTSW 10 89,412,192 (GRCm39) missense probably benign 0.00
R0521:Slc17a8 UTSW 10 89,412,192 (GRCm39) missense probably benign 0.00
R0610:Slc17a8 UTSW 10 89,412,488 (GRCm39) missense probably damaging 0.99
R0846:Slc17a8 UTSW 10 89,442,596 (GRCm39) missense possibly damaging 0.81
R0928:Slc17a8 UTSW 10 89,434,545 (GRCm39) missense probably damaging 1.00
R1277:Slc17a8 UTSW 10 89,433,319 (GRCm39) missense possibly damaging 0.80
R1401:Slc17a8 UTSW 10 89,427,076 (GRCm39) missense probably damaging 1.00
R1854:Slc17a8 UTSW 10 89,442,627 (GRCm39) missense unknown
R1935:Slc17a8 UTSW 10 89,413,777 (GRCm39) missense probably benign 0.03
R1936:Slc17a8 UTSW 10 89,413,777 (GRCm39) missense probably benign 0.03
R3887:Slc17a8 UTSW 10 89,427,000 (GRCm39) splice site probably benign
R4227:Slc17a8 UTSW 10 89,434,575 (GRCm39) missense probably damaging 1.00
R4872:Slc17a8 UTSW 10 89,412,367 (GRCm39) missense probably benign 0.38
R5023:Slc17a8 UTSW 10 89,412,422 (GRCm39) missense probably benign 0.01
R5330:Slc17a8 UTSW 10 89,425,356 (GRCm39) critical splice donor site probably null
R5331:Slc17a8 UTSW 10 89,425,356 (GRCm39) critical splice donor site probably null
R5576:Slc17a8 UTSW 10 89,433,364 (GRCm39) missense probably damaging 1.00
R5593:Slc17a8 UTSW 10 89,442,702 (GRCm39) missense probably benign
R6035:Slc17a8 UTSW 10 89,427,937 (GRCm39) missense possibly damaging 0.67
R6035:Slc17a8 UTSW 10 89,427,937 (GRCm39) missense possibly damaging 0.67
R7038:Slc17a8 UTSW 10 89,436,083 (GRCm39) missense probably benign 0.00
R7220:Slc17a8 UTSW 10 89,412,275 (GRCm39) missense probably benign
R7514:Slc17a8 UTSW 10 89,427,969 (GRCm39) missense probably damaging 1.00
R7689:Slc17a8 UTSW 10 89,433,319 (GRCm39) missense possibly damaging 0.80
R8145:Slc17a8 UTSW 10 89,412,233 (GRCm39) missense probably benign 0.00
R8693:Slc17a8 UTSW 10 89,428,758 (GRCm39) missense probably benign 0.08
R8857:Slc17a8 UTSW 10 89,427,022 (GRCm39) missense probably damaging 1.00
R9163:Slc17a8 UTSW 10 89,425,444 (GRCm39) missense probably damaging 0.99
X0021:Slc17a8 UTSW 10 89,434,544 (GRCm39) missense probably damaging 1.00
X0067:Slc17a8 UTSW 10 89,428,774 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GTACAGTCACAGAAACACATACAGG -3'
(R):5'- GTGTTAGATCTCAGTGAACAAGATGA -3'

Sequencing Primer
(F):5'- GAAAGAGATCAGAGCCTACCTTCTG -3'
(R):5'- CAGGGATGCTGAATTATAGCTCTCC -3'
Posted On 2019-10-24