Incidental Mutation 'R0846:Slc17a8'
ID 77376
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 039025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0846 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 89409882-89457111 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89442596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 79 (D79G)
Ref Sequence ENSEMBL: ENSMUSP00000020102 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020102]
AlphaFold Q8BFU8
Predicted Effect possibly damaging
Transcript: ENSMUST00000020102
AA Change: D79G

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000020102
Gene: ENSMUSG00000019935
AA Change: D79G

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: 99.6%
  • 3x: 98.8%
  • 10x: 96.2%
  • 20x: 90.2%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 T C 6: 86,936,071 (GRCm39) probably benign Het
Adgrv1 G A 13: 81,627,861 (GRCm39) R3667* probably null Het
Adh5 T G 3: 138,156,835 (GRCm39) C174G probably damaging Het
Cap1 A C 4: 122,756,692 (GRCm39) probably null Het
Caps2 G A 10: 112,051,490 (GRCm39) R587H probably damaging Het
Ccn1 T A 3: 145,353,525 (GRCm39) M346L possibly damaging Het
Cdo1 A G 18: 46,848,812 (GRCm39) V142A probably damaging Het
Chuk T C 19: 44,079,467 (GRCm39) T345A probably damaging Het
Cobll1 T C 2: 64,932,409 (GRCm39) probably null Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Cop1 T C 1: 159,147,386 (GRCm39) Y571H probably benign Het
Cstpp1 T A 2: 91,214,182 (GRCm39) T58S probably damaging Het
Dcc A G 18: 71,959,283 (GRCm39) V163A probably benign Het
Dnah11 G T 12: 117,897,585 (GRCm39) N3548K probably damaging Het
Ehhadh G T 16: 21,592,247 (GRCm39) S152* probably null Het
Fitm2 T C 2: 163,311,734 (GRCm39) T160A probably benign Het
Fos C T 12: 85,522,457 (GRCm39) T162I probably damaging Het
Fsd2 T C 7: 81,190,145 (GRCm39) I546V probably benign Het
Gal3st2c T C 1: 93,934,669 (GRCm39) V19A possibly damaging Het
Gorasp2 T A 2: 70,521,298 (GRCm39) S443T probably benign Het
Klf4 G A 4: 55,530,191 (GRCm39) H307Y probably damaging Het
Ldc1 A C 4: 130,115,417 (GRCm39) S44A probably benign Het
Mark3 A G 12: 111,593,658 (GRCm39) D230G possibly damaging Het
Mnat1 T G 12: 73,170,706 (GRCm39) probably null Het
Or5m9b T C 2: 85,905,510 (GRCm39) L142P possibly damaging Het
Otogl T G 10: 107,608,157 (GRCm39) T2073P probably benign Het
Pdxdc1 A C 16: 13,672,257 (GRCm39) probably null Het
Pkhd1l1 T C 15: 44,358,993 (GRCm39) S401P probably damaging Het
Polr1a T C 6: 71,901,627 (GRCm39) Y262H probably damaging Het
Pramel19 A T 4: 101,798,447 (GRCm39) K139N probably benign Het
Scamp4 T C 10: 80,450,537 (GRCm39) F205L probably benign Het
Scn1a C T 2: 66,155,099 (GRCm39) S620N probably benign Het
Scn7a C T 2: 66,527,944 (GRCm39) D849N possibly damaging Het
Sync A G 4: 129,187,897 (GRCm39) S310G probably benign Het
Tbc1d9b A C 11: 50,062,148 (GRCm39) I1219L probably benign Het
Vmn1r47 T A 6: 89,999,657 (GRCm39) M263K probably benign Het
Zfp773 A T 7: 7,135,691 (GRCm39) C302S 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
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
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'- TGTATGTCTCCTGGAGTCCAAGGTC -3'
(R):5'- TTTTACAGCGCAAGCTGAGCCC -3'

Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TGCCTCACCTTGAATACTGG -3'
Posted On 2013-10-16