Incidental Mutation 'R6380:Slc17a6'
ID 515263
Institutional Source Beutler Lab
Gene Symbol Slc17a6
Ensembl Gene ENSMUSG00000030500
Gene Name solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6
Synonyms VGLUT2, 2900073D12Rik
MMRRC Submission 044529-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6380 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 51271754-51320867 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 51317211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 411 (V411M)
Ref Sequence ENSEMBL: ENSMUSP00000032710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032710] [ENSMUST00000207945]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000032710
AA Change: V411M

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: V411M

DomainStartEndE-ValueType
Pfam:MFS_1 76 461 6.5e-50 PFAM
transmembrane domain 476 498 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207945
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 96.5%
Validation Efficiency 100% (51/51)
MGI Phenotype PHENOTYPE: Mice homozygous for null mutations display neonatal lethality, respiratory failure, and abnormal nervous system physiology. Heterozygous mice for one allele display abnormal miniature EPSC and reduced responses to neuropathic pain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik G A 6: 91,900,118 (GRCm39) G424D probably damaging Het
Aco1 T C 4: 40,185,028 (GRCm39) V566A probably benign Het
Adat1 G T 8: 112,704,704 (GRCm39) T414K probably benign Het
Alox12e A G 11: 70,211,927 (GRCm39) V194A probably benign Het
Anpep A G 7: 79,491,644 (GRCm39) V119A probably benign Het
Atat1 C A 17: 36,219,849 (GRCm39) probably null Het
Atp10a G A 7: 58,469,432 (GRCm39) W1094* probably null Het
Bcl11b T C 12: 107,969,360 (GRCm39) R15G probably benign Het
Bltp1 A G 3: 37,087,456 (GRCm39) D4019G probably benign Het
Btnl1 A G 17: 34,598,468 (GRCm39) E28G probably benign Het
Ccnd1 A G 7: 144,493,306 (GRCm39) V42A probably benign Het
Cdyl2 T A 8: 117,309,923 (GRCm39) K344N probably damaging Het
Cep68 A G 11: 20,180,498 (GRCm39) M711T probably benign Het
Cyp2j7 A G 4: 96,118,211 (GRCm39) probably null Het
Cyp3a25 A T 5: 145,935,357 (GRCm39) D86E probably damaging Het
Dclk1 G T 3: 55,154,615 (GRCm39) R15L probably damaging Het
Dpy19l1 T A 9: 24,393,341 (GRCm39) K143* probably null Het
Duox2 A G 2: 122,111,483 (GRCm39) V1405A probably benign Het
Filip1 T C 9: 79,726,906 (GRCm39) E571G probably damaging Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Jph1 T C 1: 17,162,071 (GRCm39) N197S probably damaging Het
Kcnt2 T C 1: 140,437,322 (GRCm39) L535S probably damaging Het
Lepr C A 4: 101,622,151 (GRCm39) S361* probably null Het
Lfng T A 5: 140,600,151 (GRCm39) probably null Het
Lpcat2 G A 8: 93,613,209 (GRCm39) A250T probably benign Het
Mab21l4 G A 1: 93,088,613 (GRCm39) probably null Het
Map3k4 A T 17: 12,490,954 (GRCm39) M159K possibly damaging Het
Notch3 A T 17: 32,363,533 (GRCm39) C1177S probably damaging Het
Olfml2b C T 1: 170,496,800 (GRCm39) P477L probably benign Het
Or51a5 A T 7: 102,771,136 (GRCm39) F281Y probably benign Het
Or5k16 T A 16: 58,736,627 (GRCm39) I126L probably damaging Het
Or6c33 A T 10: 129,853,782 (GRCm39) H184L probably benign Het
Pald1 G T 10: 61,186,714 (GRCm39) F146L possibly damaging Het
Pcdhga1 A G 18: 37,796,022 (GRCm39) D342G probably damaging Het
Plcb2 T C 2: 118,545,949 (GRCm39) S579G probably damaging Het
Prdm16 A T 4: 154,425,824 (GRCm39) S654T probably benign Het
Rab3gap2 C A 1: 184,968,181 (GRCm39) L178I probably damaging Het
Rbfox1 C T 16: 7,042,214 (GRCm39) Q23* probably null Het
Slc14a2 T G 18: 78,190,190 (GRCm39) T920P probably benign Het
Stard6 G A 18: 70,609,459 (GRCm39) V33I probably benign Het
Syce1 A T 7: 140,358,978 (GRCm39) H178Q probably damaging Het
Syne2 T A 12: 76,151,754 (GRCm39) F1872I probably damaging Het
Tor1aip1 T C 1: 155,894,234 (GRCm39) E274G possibly damaging Het
Trpm1 A T 7: 63,918,045 (GRCm39) T462S probably benign Het
Ugt3a1 C T 15: 9,306,541 (GRCm39) A230V probably benign Het
Vmn1r178 A G 7: 23,592,984 (GRCm39) T11A possibly damaging Het
Vmn2r69 A T 7: 85,061,067 (GRCm39) N172K probably benign Het
Whrn G T 4: 63,336,829 (GRCm39) P136T possibly damaging Het
Zfhx4 A G 3: 5,478,170 (GRCm39) N3570S probably damaging Het
Zfp689 A G 7: 127,043,968 (GRCm39) S221P probably damaging Het
Other mutations in Slc17a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Slc17a6 APN 7 51,318,863 (GRCm39) missense probably benign 0.15
IGL01653:Slc17a6 APN 7 51,317,770 (GRCm39) missense possibly damaging 0.92
IGL01993:Slc17a6 APN 7 51,317,705 (GRCm39) missense possibly damaging 0.51
IGL02082:Slc17a6 APN 7 51,318,777 (GRCm39) missense probably benign 0.00
IGL02212:Slc17a6 APN 7 51,317,218 (GRCm39) missense possibly damaging 0.94
IGL02544:Slc17a6 APN 7 51,315,903 (GRCm39) nonsense probably null
IGL02585:Slc17a6 APN 7 51,275,097 (GRCm39) missense probably benign 0.00
IGL03206:Slc17a6 APN 7 51,315,771 (GRCm39) splice site probably benign
IGL03396:Slc17a6 APN 7 51,318,840 (GRCm39) missense probably damaging 1.00
R0137:Slc17a6 UTSW 7 51,315,892 (GRCm39) missense probably benign 0.00
R0141:Slc17a6 UTSW 7 51,318,815 (GRCm39) missense probably benign 0.10
R0207:Slc17a6 UTSW 7 51,295,928 (GRCm39) intron probably benign
R0362:Slc17a6 UTSW 7 51,308,519 (GRCm39) missense probably damaging 1.00
R0841:Slc17a6 UTSW 7 51,275,063 (GRCm39) missense probably benign 0.29
R1037:Slc17a6 UTSW 7 51,298,996 (GRCm39) splice site probably benign
R1325:Slc17a6 UTSW 7 51,311,300 (GRCm39) missense probably benign 0.15
R1614:Slc17a6 UTSW 7 51,296,025 (GRCm39) intron probably benign
R1625:Slc17a6 UTSW 7 51,311,208 (GRCm39) missense probably benign 0.00
R1736:Slc17a6 UTSW 7 51,311,333 (GRCm39) splice site probably benign
R1777:Slc17a6 UTSW 7 51,295,957 (GRCm39) missense possibly damaging 0.63
R1824:Slc17a6 UTSW 7 51,311,294 (GRCm39) missense probably damaging 1.00
R2249:Slc17a6 UTSW 7 51,317,654 (GRCm39) missense probably damaging 1.00
R4283:Slc17a6 UTSW 7 51,294,824 (GRCm39) missense probably damaging 1.00
R4910:Slc17a6 UTSW 7 51,308,489 (GRCm39) missense possibly damaging 0.78
R5301:Slc17a6 UTSW 7 51,308,519 (GRCm39) missense probably damaging 1.00
R5523:Slc17a6 UTSW 7 51,276,598 (GRCm39) nonsense probably null
R5570:Slc17a6 UTSW 7 51,308,504 (GRCm39) missense probably benign 0.00
R5720:Slc17a6 UTSW 7 51,275,145 (GRCm39) missense probably damaging 1.00
R5736:Slc17a6 UTSW 7 51,294,841 (GRCm39) missense possibly damaging 0.78
R5765:Slc17a6 UTSW 7 51,275,249 (GRCm39) missense possibly damaging 0.93
R6989:Slc17a6 UTSW 7 51,311,224 (GRCm39) missense possibly damaging 0.88
R7178:Slc17a6 UTSW 7 51,317,259 (GRCm39) missense possibly damaging 0.58
R7194:Slc17a6 UTSW 7 51,276,640 (GRCm39) missense probably damaging 1.00
R7325:Slc17a6 UTSW 7 51,294,766 (GRCm39) missense probably damaging 0.96
R7766:Slc17a6 UTSW 7 51,318,914 (GRCm39) missense probably benign 0.06
R7877:Slc17a6 UTSW 7 51,275,253 (GRCm39) missense probably benign 0.00
R7898:Slc17a6 UTSW 7 51,308,573 (GRCm39) splice site probably null
R8059:Slc17a6 UTSW 7 51,294,792 (GRCm39) missense probably damaging 1.00
R8788:Slc17a6 UTSW 7 51,298,908 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGCCCAATAATGGTTGTTAATCAC -3'
(R):5'- AGGACAGGGTGTGCATTGTC -3'

Sequencing Primer
(F):5'- AAGTTGACCATGCTCCAGTG -3'
(R):5'- CATTCTCTTAACAAATGGATCGGG -3'
Posted On 2018-05-04