Incidental Mutation 'R1854:Slc17a8'
ID 205943
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 039878-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1854 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 89409882-89457111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89442627 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 69 (C69S)
Ref Sequence ENSEMBL: ENSMUSP00000020102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020102]
AlphaFold Q8BFU8
Predicted Effect unknown
Transcript: ENSMUST00000020102
AA Change: C69S
SMART Domains Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: C69S

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.5%
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik C T 16: 88,504,668 (GRCm39) R43K possibly damaging Het
Acp1 A G 12: 30,947,804 (GRCm39) I78T possibly damaging Het
Afap1l1 G T 18: 61,876,365 (GRCm39) D417E probably benign Het
Agap2 G A 10: 126,916,385 (GRCm39) V299I unknown Het
Ahnak C T 19: 8,991,196 (GRCm39) A4160V possibly damaging Het
Anapc1 T C 2: 128,517,810 (GRCm39) E278G probably damaging Het
Atad2 G A 15: 57,960,685 (GRCm39) P971L possibly damaging Het
Atg2a A G 19: 6,302,461 (GRCm39) E928G probably benign Het
Atp2b2 A C 6: 113,819,244 (GRCm39) N16K probably damaging Het
Atp6ap1l T C 13: 91,031,707 (GRCm39) E325G probably damaging Het
Bfsp2 C T 9: 103,327,030 (GRCm39) G236S probably benign Het
Ccar1 A T 10: 62,600,296 (GRCm39) I545N probably damaging Het
Ccser2 A G 14: 36,640,548 (GRCm39) C11R possibly damaging Het
Cdc42bpg A T 19: 6,370,837 (GRCm39) H1310L possibly damaging Het
Ces1h T C 8: 94,085,450 (GRCm39) K339E probably benign Het
Cfap91 T C 16: 38,144,659 (GRCm39) probably null Het
Cit A G 5: 116,011,960 (GRCm39) Y189C probably damaging Het
Cnih3 C A 1: 181,282,186 (GRCm39) S140* probably null Het
Cntrl A G 2: 35,012,696 (GRCm39) D278G probably damaging Het
Col24a1 G A 3: 145,164,895 (GRCm39) G1033D probably damaging Het
Col6a1 T G 10: 76,557,783 (GRCm39) Y151S probably damaging Het
Col6a2 T A 10: 76,450,646 (GRCm39) Q95L probably damaging Het
Cpd G T 11: 76,677,164 (GRCm39) P1185Q probably damaging Het
Cycs T A 6: 50,542,309 (GRCm39) I76F possibly damaging Het
Cyp4f16 T A 17: 32,756,073 (GRCm39) I34N probably damaging Het
Ddx1 A C 12: 13,279,332 (GRCm39) S436A probably benign Het
Defa30 A G 8: 21,625,500 (GRCm39) Y88C probably damaging Het
Dhx30 G A 9: 109,917,740 (GRCm39) L317F probably damaging Het
Dll3 C A 7: 27,995,835 (GRCm39) G322V probably damaging Het
Dnah10 G A 5: 124,881,753 (GRCm39) D2843N probably damaging Het
Dnaja3 C T 16: 4,515,133 (GRCm39) T266I probably damaging Het
Dpp9 T C 17: 56,509,885 (GRCm39) I314V probably benign Het
E030025P04Rik A G 11: 109,034,744 (GRCm39) V48A unknown Het
Enpp2 C T 15: 54,709,219 (GRCm39) E803K probably damaging Het
Eri3 G A 4: 117,506,562 (GRCm39) G297D probably benign Het
Esp34 A G 17: 38,870,424 (GRCm39) E38G possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Frzb A G 2: 80,276,724 (GRCm39) V154A possibly damaging Het
Fsip2 G T 2: 82,823,601 (GRCm39) A6445S possibly damaging Het
Gm11938 G A 11: 99,493,843 (GRCm39) T84I possibly damaging Het
Gm4787 T A 12: 81,425,108 (GRCm39) H350L probably damaging Het
Gpa33 A G 1: 165,992,759 (GRCm39) I291V probably benign Het
Gpr158 A G 2: 21,373,935 (GRCm39) Y290C probably damaging Het
Gpsm1 G T 2: 26,234,725 (GRCm39) G84W probably damaging Het
Hormad1 A G 3: 95,487,317 (GRCm39) N267S probably benign Het
Htr2a A T 14: 74,943,193 (GRCm39) I258F probably damaging Het
Htra4 T C 8: 25,523,597 (GRCm39) T323A probably damaging Het
Ift140 T A 17: 25,254,813 (GRCm39) F162Y probably benign Het
Islr2 T C 9: 58,107,099 (GRCm39) T54A probably damaging Het
Kcna4 T G 2: 107,126,829 (GRCm39) V521G probably damaging Het
Kdr C T 5: 76,113,565 (GRCm39) G768S possibly damaging Het
Kif6 G T 17: 50,208,799 (GRCm39) A740S probably benign Het
Lad1 T A 1: 135,755,468 (GRCm39) V248E probably damaging Het
Lamb1 T G 12: 31,368,271 (GRCm39) C1134G probably damaging Het
Lamc1 A G 1: 153,125,618 (GRCm39) Y552H probably damaging Het
Mctp1 A T 13: 76,973,860 (GRCm39) T706S probably damaging Het
Med12l A G 3: 59,168,193 (GRCm39) Y1541C probably damaging Het
Mnx1 C T 5: 29,682,780 (GRCm39) S165N unknown Het
Morn3 A T 5: 123,184,692 (GRCm39) probably null Het
Nalcn C T 14: 123,697,824 (GRCm39) R484Q probably damaging Het
Nr4a1 T C 15: 101,169,645 (GRCm39) I305T probably benign Het
Or1j11 C T 2: 36,311,886 (GRCm39) H159Y probably damaging Het
Or2z2 G A 11: 58,346,257 (GRCm39) R173W probably damaging Het
Pabir2 T A X: 52,342,933 (GRCm39) Q201H probably benign Het
Pcdhb5 T C 18: 37,455,393 (GRCm39) V591A possibly damaging Het
Pdia3 T C 2: 121,262,144 (GRCm39) I205T probably benign Het
Pdia4 A T 6: 47,790,161 (GRCm39) D26E unknown Het
Phactr3 C A 2: 177,924,940 (GRCm39) L292M probably damaging Het
Phf21b T A 15: 84,738,963 (GRCm39) I21F probably benign Het
Pign A G 1: 105,482,223 (GRCm39) V791A probably damaging Het
Pitpna A G 11: 75,499,929 (GRCm39) probably null Het
Piwil1 G T 5: 128,824,903 (GRCm39) E534* probably null Het
Plcz1 T A 6: 139,938,775 (GRCm39) I526F probably benign Het
Pms2 A T 5: 143,862,714 (GRCm39) K607I probably benign Het
Pnn T A 12: 59,118,399 (GRCm39) N327K probably damaging Het
Pogz C T 3: 94,786,160 (GRCm39) T863I probably benign Het
Polq C T 16: 36,882,471 (GRCm39) T1545I probably benign Het
Psd4 G A 2: 24,287,468 (GRCm39) E467K probably benign Het
Pstpip2 T A 18: 77,959,499 (GRCm39) L198Q probably damaging Het
Pzp T C 6: 128,479,188 (GRCm39) Y655C probably damaging Het
Qrsl1 C T 10: 43,770,541 (GRCm39) G117E probably damaging Het
Rad54b G A 4: 11,601,669 (GRCm39) C408Y probably damaging Het
Ralb T A 1: 119,403,797 (GRCm39) Q110L possibly damaging Het
Rrm2 A G 12: 24,763,151 (GRCm39) K218E probably damaging Het
Siglece A G 7: 43,309,360 (GRCm39) F66S probably benign Het
Slc1a6 T A 10: 78,648,758 (GRCm39) V493E probably damaging Het
Slc38a11 A T 2: 65,193,860 (GRCm39) probably null Het
Smarcal1 G A 1: 72,625,258 (GRCm39) G135D possibly damaging Het
Snrnp70 T A 7: 45,026,644 (GRCm39) R242* probably null Het
St3gal5 T C 6: 72,109,077 (GRCm39) L55P probably damaging Het
Sulf1 A G 1: 12,908,661 (GRCm39) N558S probably benign Het
Supt6 T C 11: 78,123,366 (GRCm39) I104V possibly damaging Het
Tas2r113 T A 6: 132,870,292 (GRCm39) Y107N probably damaging Het
Tcf7 A G 11: 52,147,891 (GRCm39) V187A probably benign Het
Tdrd9 G A 12: 112,011,246 (GRCm39) G1152R probably damaging Het
Tfpi A G 2: 84,288,451 (GRCm39) Y9H probably benign Het
Tnk2 G A 16: 32,498,960 (GRCm39) V758I probably damaging Het
Trim72 A G 7: 127,608,254 (GRCm39) I251V probably benign Het
Trip12 T A 1: 84,705,866 (GRCm39) N655Y probably damaging Het
Ttn A G 2: 76,581,773 (GRCm39) V23040A probably damaging Het
Tulp2 T A 7: 45,167,367 (GRCm39) N188K probably damaging Het
Ube2c C T 2: 164,613,282 (GRCm39) H67Y probably damaging Het
Unc80 C A 1: 66,670,573 (GRCm39) P1899T possibly damaging Het
Usp34 C T 11: 23,376,153 (GRCm39) A1879V probably benign Het
Vmn2r118 G A 17: 55,918,556 (GRCm39) S112L possibly damaging Het
Wdfy3 A T 5: 102,036,052 (GRCm39) V2122E probably benign Het
Zcchc4 A G 5: 52,973,168 (GRCm39) Y344C probably damaging Het
Zdbf2 GAAAAA GAAAAAA 1: 63,344,701 (GRCm39) probably null Het
Zdhhc25 A T 15: 88,484,689 (GRCm39) H8L probably benign Het
Zfp455 A T 13: 67,355,881 (GRCm39) H383L probably damaging Het
Zfp663 A G 2: 165,195,211 (GRCm39) I336T probably benign Het
Zfp738 T A 13: 67,818,476 (GRCm39) H505L probably damaging Het
Zfp84 T G 7: 29,474,796 (GRCm39) F23V 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
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
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'- TGGTTTCCCATCCACATACACAG -3'
(R):5'- GAGCCCCTCTGTAGGTTTTC -3'

Sequencing Primer
(F):5'- CACATACACAGTGCTATTGTTGACC -3'
(R):5'- TTGCTTGGTGCCATTTTTATTTATAC -3'
Posted On 2014-06-23