Incidental Mutation 'IGL02082:Slc17a6'
ID283401
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc17a6
Ensembl Gene ENSMUSG00000030500
Gene Namesolute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6
Synonyms2900073D12Rik, VGLUT2
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02082
Quality Score
Status
Chromosome7
Chromosomal Location51622006-51671119 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 51669029 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Leucine at position 473 (R473L)
Ref Sequence ENSEMBL: ENSMUSP00000032710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032710] [ENSMUST00000207945]
Predicted Effect probably benign
Transcript: ENSMUST00000032710
AA Change: R473L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000032710
Gene: ENSMUSG00000030500
AA Change: R473L

DomainStartEndE-ValueType
Pfam:MFS_1 76 461 6.5e-50 PFAM
transmembrane domain 476 498 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207945
Coding Region Coverage
Validation Efficiency
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A G 4: 42,970,198 T2A probably benign Het
Atp9b A C 18: 80,891,930 probably benign Het
Brinp3 T C 1: 146,751,862 C278R probably damaging Het
Cfap54 T C 10: 93,081,458 S47G unknown Het
Clec16a T C 16: 10,614,568 L484P probably damaging Het
Cnksr1 C A 4: 134,236,052 G71C probably damaging Het
Dnah12 A T 14: 26,707,162 N246I possibly damaging Het
Fbxo18 T C 2: 11,764,127 D285G probably benign Het
Focad C T 4: 88,230,578 Q511* probably null Het
Gpr63 A G 4: 25,008,564 probably benign Het
Iah1 C A 12: 21,317,404 S37* probably null Het
Inpp4a T A 1: 37,366,627 probably benign Het
Mcm2 A T 6: 88,888,236 Y486* probably null Het
Mtmr10 A G 7: 64,333,490 probably benign Het
Nbea A G 3: 55,968,167 L1694S possibly damaging Het
Pafah1b1 A G 11: 74,699,333 S4P probably benign Het
Rnase10 A T 14: 51,009,399 E41V probably damaging Het
Tbc1d9b A G 11: 50,163,882 D951G probably benign Het
Tk1 C A 11: 117,825,727 probably null Het
Trim46 C A 3: 89,239,000 A395S probably benign Het
Vmn1r113 C T 7: 20,787,747 H155Y probably benign Het
Vmn1r222 A G 13: 23,232,329 M238T probably damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Other mutations in Slc17a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01408:Slc17a6 APN 7 51669115 missense probably benign 0.15
IGL01653:Slc17a6 APN 7 51668022 missense possibly damaging 0.92
IGL01993:Slc17a6 APN 7 51667957 missense possibly damaging 0.51
IGL02212:Slc17a6 APN 7 51667470 missense possibly damaging 0.94
IGL02544:Slc17a6 APN 7 51666155 nonsense probably null
IGL02585:Slc17a6 APN 7 51625349 missense probably benign 0.00
IGL03206:Slc17a6 APN 7 51666023 splice site probably benign
IGL03396:Slc17a6 APN 7 51669092 missense probably damaging 1.00
R0137:Slc17a6 UTSW 7 51666144 missense probably benign 0.00
R0141:Slc17a6 UTSW 7 51669067 missense probably benign 0.10
R0207:Slc17a6 UTSW 7 51646180 intron probably benign
R0362:Slc17a6 UTSW 7 51658771 missense probably damaging 1.00
R0841:Slc17a6 UTSW 7 51625315 missense probably benign 0.29
R1037:Slc17a6 UTSW 7 51649248 splice site probably benign
R1325:Slc17a6 UTSW 7 51661552 missense probably benign 0.15
R1614:Slc17a6 UTSW 7 51646277 intron probably benign
R1625:Slc17a6 UTSW 7 51661460 missense probably benign 0.00
R1736:Slc17a6 UTSW 7 51661585 splice site probably benign
R1777:Slc17a6 UTSW 7 51646209 missense possibly damaging 0.63
R1824:Slc17a6 UTSW 7 51661546 missense probably damaging 1.00
R2249:Slc17a6 UTSW 7 51667906 missense probably damaging 1.00
R4283:Slc17a6 UTSW 7 51645076 missense probably damaging 1.00
R4910:Slc17a6 UTSW 7 51658741 missense possibly damaging 0.78
R5301:Slc17a6 UTSW 7 51658771 missense probably damaging 1.00
R5523:Slc17a6 UTSW 7 51626850 nonsense probably null
R5570:Slc17a6 UTSW 7 51658756 missense probably benign 0.00
R5720:Slc17a6 UTSW 7 51625397 missense probably damaging 1.00
R5736:Slc17a6 UTSW 7 51645093 missense possibly damaging 0.78
R5765:Slc17a6 UTSW 7 51625501 missense possibly damaging 0.93
R6380:Slc17a6 UTSW 7 51667463 missense probably benign 0.02
R6989:Slc17a6 UTSW 7 51661476 missense possibly damaging 0.88
R7178:Slc17a6 UTSW 7 51667511 missense possibly damaging 0.58
R7194:Slc17a6 UTSW 7 51626892 missense probably damaging 1.00
R7325:Slc17a6 UTSW 7 51645018 missense probably damaging 0.96
Posted On2015-04-16