Incidental Mutation 'R7514:Slc17a8'
ID 582324
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 045587-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7514 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 89409882-89457111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 89427969 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 286 (P286Q)
Ref Sequence ENSEMBL: ENSMUSP00000020102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020102] [ENSMUST00000105295]
AlphaFold Q8BFU8
Predicted Effect probably damaging
Transcript: ENSMUST00000020102
AA Change: P286Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: P286Q

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 damaging
Transcript: ENSMUST00000105295
AA Change: P102Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000100932
Gene: ENSMUSG00000019935
AA Change: P102Q

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik A G 11: 72,086,628 (GRCm39) L261P probably damaging Het
A4gnt A G 9: 99,502,598 (GRCm39) I253V probably benign Het
AAdacl4fm3 A T 4: 144,429,798 (GRCm39) V397D possibly damaging Het
Acap2 A T 16: 30,973,385 (GRCm39) probably null Het
Adora2b G T 11: 62,156,146 (GRCm39) M198I probably damaging Het
Akap5 C A 12: 76,375,303 (GRCm39) T245K probably benign Het
Aldh1a2 T C 9: 71,192,245 (GRCm39) I399T probably damaging Het
Ank2 G A 3: 126,819,252 (GRCm39) S473L probably benign Het
Anln A T 9: 22,272,153 (GRCm39) D655E probably damaging Het
Arhgef10 T C 8: 15,025,956 (GRCm39) V820A probably benign Het
Arid1b A G 17: 5,391,989 (GRCm39) K1787E probably benign Het
Art4 T C 6: 136,831,739 (GRCm39) H134R probably benign Het
Borcs6 G A 11: 68,951,410 (GRCm39) V263M probably damaging Het
C8a A T 4: 104,703,247 (GRCm39) M314K possibly damaging Het
Cbfa2t3 T G 8: 123,361,865 (GRCm39) M386L probably damaging Het
Ccdc170 T A 10: 4,496,839 (GRCm39) V459E probably benign Het
Cdh4 T A 2: 179,532,636 (GRCm39) N699K possibly damaging Het
Cdk12 T C 11: 98,113,484 (GRCm39) L756P unknown Het
Chsy1 A G 7: 65,821,868 (GRCm39) D701G probably damaging Het
Cnot9 A G 1: 74,567,921 (GRCm39) T270A probably benign Het
Crat C T 2: 30,294,577 (GRCm39) R497Q probably benign Het
Csnk2a1-ps3 A G 1: 156,352,324 (GRCm39) D175G probably benign Het
Cyb5r1 A G 1: 134,338,268 (GRCm39) E228G probably damaging Het
D630003M21Rik A G 2: 158,059,273 (GRCm39) L209P probably damaging Het
Dennd2c T A 3: 103,070,378 (GRCm39) D791E probably benign Het
Dnah14 T C 1: 181,455,632 (GRCm39) I919T probably damaging Het
Dpp8 T C 9: 64,986,036 (GRCm39) L842S probably damaging Het
Ern1 A G 11: 106,300,719 (GRCm39) probably null Het
Exo1 T C 1: 175,734,232 (GRCm39) probably null Het
Fam161b T G 12: 84,404,512 (GRCm39) E56A possibly damaging Het
Fbrsl1 T C 5: 110,580,799 (GRCm39) T153A probably benign Het
Fcgr3 T G 1: 170,886,912 (GRCm39) D4A probably benign Het
Gltp C T 5: 114,808,521 (GRCm39) A193T probably benign Het
Gm3159 A T 14: 4,399,690 (GRCm38) S142C probably damaging Het
Gphn T C 12: 78,672,939 (GRCm39) V485A probably damaging Het
Grik2 A T 10: 49,399,904 (GRCm39) N275K probably damaging Het
Gstt3 G T 10: 75,612,625 (GRCm39) Q102K probably damaging Het
Hivep3 T A 4: 119,954,052 (GRCm39) F789L possibly damaging Het
Ing5 A G 1: 93,744,164 (GRCm39) N157D possibly damaging Het
Itga3 C T 11: 94,956,722 (GRCm39) W177* probably null Het
Jag2 T C 12: 112,892,672 (GRCm39) T83A probably benign Het
Krt90 G A 15: 101,461,605 (GRCm39) T532I unknown Het
Lcn2 A G 2: 32,277,861 (GRCm39) probably null Het
Lrig2 A G 3: 104,373,076 (GRCm39) S602P probably damaging Het
Lsm1 A C 8: 26,282,237 (GRCm39) R33S probably damaging Het
Mast4 A T 13: 102,923,934 (GRCm39) Y492* probably null Het
Mcm3 A T 1: 20,876,120 (GRCm39) L658Q probably benign Het
Myh4 G A 11: 67,134,148 (GRCm39) probably null Het
Nck2 T C 1: 43,608,381 (GRCm39) V341A probably benign Het
Nucb1 T C 7: 45,151,142 (GRCm39) probably null Het
Nup210l G C 3: 90,117,766 (GRCm39) probably null Het
Or1j1 A G 2: 36,702,651 (GRCm39) I151T probably benign Het
Or5al5 A T 2: 85,961,972 (GRCm39) F12I probably damaging Het
Or7g22 A T 9: 19,049,161 (GRCm39) S291C possibly damaging Het
Or8b48 T A 9: 38,493,347 (GRCm39) M258K probably damaging Het
Or8b54 G A 9: 38,686,974 (GRCm39) C141Y probably damaging Het
Pla2g4a G A 1: 149,727,113 (GRCm39) P556S probably damaging Het
Plat T C 8: 23,265,658 (GRCm39) C234R probably damaging Het
Ppfia1 T C 7: 144,071,450 (GRCm39) I321V probably benign Het
Prrc1 T A 18: 57,496,325 (GRCm39) V92E probably benign Het
Prss3 A G 6: 41,350,848 (GRCm39) V214A probably damaging Het
Ptprg G T 14: 12,179,342 (GRCm38) K786N possibly damaging Het
Rabgap1 G T 2: 37,427,354 (GRCm39) G645V probably damaging Het
Rfx4 T C 10: 84,716,090 (GRCm39) S470P probably damaging Het
Rin3 C T 12: 102,335,909 (GRCm39) Q607* probably null Het
Sema3a A G 5: 13,573,093 (GRCm39) H207R probably benign Het
Serpinb12 G A 1: 106,878,534 (GRCm39) E181K probably damaging Het
Serpinb6c G A 13: 34,081,386 (GRCm39) Q88* probably null Het
Shmt1 A C 11: 60,692,812 (GRCm39) C90W probably damaging Het
Slc16a13 C T 11: 70,109,710 (GRCm39) V264M probably damaging Het
Slc27a6 C T 18: 58,745,293 (GRCm39) Q576* probably null Het
Slc30a9 T C 5: 67,505,421 (GRCm39) S470P possibly damaging Het
Slc44a2 G T 9: 21,253,768 (GRCm39) K136N possibly damaging Het
Smarca5 A T 8: 81,444,163 (GRCm39) H534Q probably damaging Het
Son T G 16: 91,451,748 (GRCm39) L165R probably damaging Het
Sox10 G A 15: 79,040,421 (GRCm39) P373L probably benign Het
Sp100 C T 1: 85,608,860 (GRCm39) R330* probably null Het
Srrm4 A G 5: 116,584,570 (GRCm39) L500P probably damaging Het
Tap1 T C 17: 34,415,639 (GRCm39) L689P probably damaging Het
Tfg A G 16: 56,525,972 (GRCm39) probably null Het
Tjp2 C T 19: 24,088,886 (GRCm39) V677I probably benign Het
Tmprss11g T G 5: 86,645,176 (GRCm39) D85A probably damaging Het
Tnfsf9 T C 17: 57,414,238 (GRCm39) S222P probably damaging Het
Trank1 A G 9: 111,193,824 (GRCm39) N616S probably damaging Het
Tubgcp6 C A 15: 89,004,728 (GRCm39) W297L probably damaging Het
Twist1 T C 12: 34,008,355 (GRCm39) S127P probably damaging Het
Ubr4 T C 4: 139,179,966 (GRCm39) I247T unknown Het
Ubr5 G A 15: 37,988,481 (GRCm39) T2153M Het
Utrn A G 10: 12,573,833 (GRCm39) V1079A probably benign Het
Vcan T C 13: 89,852,237 (GRCm39) T908A probably damaging Het
Vmn2r104 A G 17: 20,249,791 (GRCm39) F827L probably damaging Het
Vmn2r111 T A 17: 22,767,380 (GRCm39) T706S probably benign Het
Vmn2r114 T C 17: 23,527,035 (GRCm39) D499G probably null Het
Vmn2r92 T C 17: 18,391,533 (GRCm39) S512P probably damaging Het
Vps4b A T 1: 106,708,232 (GRCm39) probably null Het
Vwa8 A C 14: 79,219,674 (GRCm39) probably null Het
Wnt10b T C 15: 98,672,045 (GRCm39) Q224R probably benign Het
Ylpm1 C T 12: 85,077,268 (GRCm39) P1331L possibly damaging Het
Zfhx4 G A 3: 5,307,267 (GRCm39) M164I possibly damaging Het
Zfp51 A G 17: 21,683,762 (GRCm39) T126A probably benign Het
Zfp609 A G 9: 65,613,418 (GRCm39) V339A probably benign Het
Zfp687 C T 3: 94,914,841 (GRCm39) R1220H probably damaging Het
Zfyve21 C T 12: 111,790,249 (GRCm39) L84F probably 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
R7574:Slc17a8 UTSW 10 89,428,008 (GRCm39) missense probably benign 0.01
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'- GGTTAGAACCCACACTGGCTACT -3'
(R):5'- CACTGGGAGTTTGGTCATGCT -3'

Sequencing Primer
(F):5'- GGCTACTGAACTGTCCTGAACTG -3'
(R):5'- TCATGCTCTAGGAAGAATATGGCC -3'
Posted On 2019-10-17