Incidental Mutation 'R7689:Slc17a8'
ID 593281
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 045753-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 89409882-89457111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89433319 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 51 (T51A)
Ref Sequence ENSEMBL: ENSMUSP00000100932 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020102] [ENSMUST00000105295]
AlphaFold Q8BFU8
Predicted Effect possibly damaging
Transcript: ENSMUST00000020102
AA Change: T235A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: T235A

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: T51A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000100932
Gene: ENSMUSG00000019935
AA Change: T51A

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: 99.7%
  • 20x: 99.2%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,440 (GRCm39) F470Y probably damaging Het
Adra1a T C 14: 66,875,250 (GRCm39) L75P probably damaging Het
Agap1 T C 1: 89,762,188 (GRCm39) S560P probably damaging Het
Ahcyl T C 16: 45,974,970 (GRCm39) T136A probably benign Het
Arrdc4 T A 7: 68,391,623 (GRCm39) I215L probably damaging Het
Atad3a C T 4: 155,840,610 (GRCm39) A97T probably damaging Het
Bcas3 A T 11: 85,386,713 (GRCm39) T383S probably benign Het
C2cd5 G A 6: 142,995,951 (GRCm39) R379* probably null Het
Cacna1e G T 1: 154,274,549 (GRCm39) H2138N probably benign Het
Card14 A T 11: 119,216,328 (GRCm39) D303V possibly damaging Het
Ccdc202 T C 14: 96,119,252 (GRCm39) V3A probably benign Het
Cfhr1 T C 1: 139,475,478 (GRCm39) Y331C unknown Het
Chp1 G A 2: 119,415,146 (GRCm39) D183N probably benign Het
Cntn2 T C 1: 132,443,882 (GRCm39) T966A probably benign Het
Cpne9 T G 6: 113,266,965 (GRCm39) C133G probably damaging Het
Cspg4b A G 13: 113,515,948 (GRCm39) T121A Het
Cul7 C T 17: 46,963,747 (GRCm39) Q275* probably null Het
Cyp11b1 T C 15: 74,710,897 (GRCm39) D221G probably benign Het
Dmxl1 T A 18: 49,979,685 (GRCm39) F107I probably benign Het
Dnhd1 A G 7: 105,363,170 (GRCm39) I3911V probably benign Het
Eif1ad16 A G 12: 87,985,259 (GRCm39) Y95H probably damaging Het
Eloa T C 4: 135,736,595 (GRCm39) H551R probably benign Het
Fam171b T A 2: 83,709,732 (GRCm39) V468D probably benign Het
Fat2 A G 11: 55,200,666 (GRCm39) W803R probably damaging Het
Fbxo43 T C 15: 36,163,201 (GRCm39) D2G probably benign Het
Fbxo8 A G 8: 57,041,120 (GRCm39) T179A probably benign Het
Gdap1 A G 1: 17,231,623 (GRCm39) T323A probably damaging Het
Gm136 T C 4: 34,743,875 (GRCm39) N323S probably null Het
Gm6899 A T 11: 26,543,819 (GRCm39) T129S unknown Het
Gnb3 A T 6: 124,814,183 (GRCm39) C166S possibly damaging Het
Gpr61 A G 3: 108,057,966 (GRCm39) F232L probably damaging Het
Gpx8 T C 13: 113,179,711 (GRCm39) M197V probably benign Het
Gse1 G T 8: 121,295,217 (GRCm39) R446L unknown Het
Itch A T 2: 155,054,987 (GRCm39) T764S probably benign Het
Itch A G 2: 155,051,922 (GRCm39) K614E probably damaging Het
Itpkb T G 1: 180,241,544 (GRCm39) M738R probably damaging Het
Jph1 T A 1: 17,074,192 (GRCm39) K609* probably null Het
Kcns1 G A 2: 164,010,241 (GRCm39) R173C probably damaging Het
Larp4b C T 13: 9,186,834 (GRCm39) S54L probably damaging Het
Lonrf1 G T 8: 36,715,918 (GRCm39) S239* probably null Het
Lyst T G 13: 13,857,808 (GRCm39) probably null Het
Mccc1 T A 3: 36,015,132 (GRCm39) R663* probably null Het
Mcm3 A G 1: 20,876,997 (GRCm39) V646A probably benign Het
Mdn1 T C 4: 32,739,912 (GRCm39) L3722P probably damaging Het
Mmp27 T G 9: 7,579,002 (GRCm39) D392E probably damaging Het
Ms4a14 A G 19: 11,279,906 (GRCm39) I884T probably benign Het
Muc4 C T 16: 32,574,439 (GRCm39) T963I probably benign Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Mucl3 C A 17: 35,948,969 (GRCm39) S210I possibly damaging Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Ndrg2 C T 14: 52,147,812 (GRCm39) A102T possibly damaging Het
Nhsl3 T C 4: 129,117,566 (GRCm39) N411S probably benign Het
Nos1 A G 5: 118,035,792 (GRCm39) D431G probably damaging Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Otog T C 7: 45,901,480 (GRCm39) L393P probably damaging Het
Plcl1 A G 1: 55,736,627 (GRCm39) N656S probably damaging Het
Pole3 C A 4: 62,443,060 (GRCm39) V27F probably damaging Het
Prrt4 T A 6: 29,177,140 (GRCm39) I210F probably damaging Het
Ptpn18 G A 1: 34,512,445 (GRCm39) D417N possibly damaging Het
Rbpms A T 8: 34,354,387 (GRCm39) S53T possibly damaging Het
Rgs7 C A 1: 174,949,296 (GRCm39) V203L probably benign Het
Riok1 A T 13: 38,229,263 (GRCm39) D150V probably damaging Het
Rrp1b T C 17: 32,274,900 (GRCm39) L335P probably benign Het
Rsph6a T G 7: 18,801,962 (GRCm39) I592S possibly damaging Het
Skor1 C T 9: 63,052,661 (GRCm39) G436D probably damaging Het
Slc22a8 T C 19: 8,585,248 (GRCm39) S266P probably damaging Het
Socs2 A G 10: 95,250,845 (GRCm39) probably benign Het
Tas2r106 A G 6: 131,655,668 (GRCm39) I61T possibly damaging Het
Tfap2a T C 13: 40,882,051 (GRCm39) N77D probably damaging Het
Tmem236 T A 2: 14,197,076 (GRCm39) L88Q probably damaging Het
Ttc41 A G 10: 86,595,088 (GRCm39) E954G probably damaging Het
Vmn1r34 G T 6: 66,613,994 (GRCm39) S248* probably null Het
Wipf1 T C 2: 73,262,789 (GRCm39) R483G probably damaging Het
Zfhx4 A G 3: 5,476,946 (GRCm39) N3187S probably benign Het
Zfp202 C A 9: 40,121,829 (GRCm39) P309T probably benign Het
Zfp39 T C 11: 58,781,469 (GRCm39) H431R probably damaging Het
Zfp658 T A 7: 43,224,102 (GRCm39) H792Q probably benign 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
R7574:Slc17a8 UTSW 10 89,428,008 (GRCm39) missense probably benign 0.01
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'- GACTTTGAAGTTACTTGAAGCCAAA -3'
(R):5'- GGCTTTGTATTTGGCAATGTATACA -3'

Sequencing Primer
(F):5'- TGGGACATCAAGCCTTCACAG -3'
(R):5'- GTTTTGTGAGGCAGCAAT -3'
Posted On 2019-11-12