Incidental Mutation 'R0131:Slc17a3'
ID 68309
Institutional Source Beutler Lab
Gene Symbol Slc17a3
Ensembl Gene ENSMUSG00000036083
Gene Name solute carrier family 17 (sodium phosphate), member 3
Synonyms Npt4
MMRRC Submission 038416-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0131 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 24023417-24044699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24039841 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 293 (S293F)
Ref Sequence ENSEMBL: ENSMUSP00000131308 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039721] [ENSMUST00000091698] [ENSMUST00000110422] [ENSMUST00000166467]
AlphaFold G3UWD9
Predicted Effect probably damaging
Transcript: ENSMUST00000039721
AA Change: S293F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083
AA Change: S293F

DomainStartEndE-ValueType
Pfam:MFS_1 45 377 3.3e-46 PFAM
transmembrane domain 393 415 N/A INTRINSIC
transmembrane domain 430 452 N/A INTRINSIC
transmembrane domain 459 481 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000091698
AA Change: S215F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083
AA Change: S215F

DomainStartEndE-ValueType
transmembrane domain 33 55 N/A INTRINSIC
Pfam:MFS_1 95 293 2.8e-25 PFAM
transmembrane domain 310 332 N/A INTRINSIC
transmembrane domain 352 369 N/A INTRINSIC
transmembrane domain 379 398 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110422
AA Change: S257F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083
AA Change: S257F

DomainStartEndE-ValueType
Pfam:MFS_1 39 425 6.7e-47 PFAM
transmembrane domain 453 475 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000166467
AA Change: S293F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083
AA Change: S293F

DomainStartEndE-ValueType
Pfam:MFS_1 9 338 2.3e-46 PFAM
transmembrane domain 357 379 N/A INTRINSIC
transmembrane domain 394 416 N/A INTRINSIC
transmembrane domain 423 445 N/A INTRINSIC
Meta Mutation Damage Score 0.8156 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.5%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 A G 8: 87,258,197 (GRCm39) I773T probably benign Het
Adamtsl1 T A 4: 86,260,960 (GRCm39) I1057N possibly damaging Het
Anxa5 G A 3: 36,504,821 (GRCm39) A247V probably damaging Het
Ascc3 T G 10: 50,611,425 (GRCm39) W1589G probably damaging Het
Atp2b2 G A 6: 113,770,743 (GRCm39) P389S probably damaging Het
Bpifa6 T A 2: 153,824,851 (GRCm39) S9T probably benign Het
Cfhr4 T A 1: 139,682,009 (GRCm39) T196S probably damaging Het
Chd8 A G 14: 52,442,783 (GRCm39) V589A probably benign Het
Chrnb2 T C 3: 89,671,713 (GRCm39) M1V probably null Het
Col16a1 T A 4: 129,960,889 (GRCm39) V449E unknown Het
Cttnbp2nl T G 3: 104,913,173 (GRCm39) K237T probably damaging Het
Dazap1 T G 10: 80,114,060 (GRCm39) probably null Het
Fam187b T A 7: 30,688,545 (GRCm39) V22E probably damaging Het
Fat2 A T 11: 55,164,037 (GRCm39) S3073T probably benign Het
Fcgbpl1 A G 7: 27,837,040 (GRCm39) R320G probably damaging Het
Gm16069 T C 3: 89,088,232 (GRCm39) probably benign Het
H2-T24 T A 17: 36,325,878 (GRCm39) I238F probably damaging Het
Hectd4 A G 5: 121,471,087 (GRCm39) E2658G probably benign Het
Herc1 A C 9: 66,388,192 (GRCm39) I3826L probably benign Het
Hinfp A G 9: 44,211,060 (GRCm39) C67R probably damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Hspg2 T C 4: 137,279,198 (GRCm39) Y3094H probably damaging Het
Htr1f A G 16: 64,747,091 (GRCm39) V67A probably damaging Het
Iqcc T G 4: 129,510,392 (GRCm39) E374D probably damaging Het
Kcnj9 T C 1: 172,153,765 (GRCm39) T120A probably damaging Het
Kif3a A G 11: 53,477,743 (GRCm39) K404R possibly damaging Het
Kitl C T 10: 99,923,226 (GRCm39) P208S probably benign Het
Lpcat4 A G 2: 112,077,093 (GRCm39) Y479C probably damaging Het
Lrrc74b T C 16: 17,371,016 (GRCm39) N227S probably damaging Het
Mdc1 T A 17: 36,163,473 (GRCm39) V1007D probably damaging Het
Mocos T G 18: 24,812,819 (GRCm39) I571S probably benign Het
Myh8 A G 11: 67,183,014 (GRCm39) N659D probably damaging Het
Naip2 A G 13: 100,320,296 (GRCm39) V240A probably benign Het
Nap1l1 T C 10: 111,321,370 (GRCm39) S37P probably benign Het
Nin T G 12: 70,097,915 (GRCm39) K515T probably damaging Het
Npl T A 1: 153,384,864 (GRCm39) K258* probably null Het
Ntn4 T A 10: 93,480,569 (GRCm39) S98T possibly damaging Het
Or10x1 T C 1: 174,197,152 (GRCm39) V223A probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5k14 C A 16: 58,693,269 (GRCm39) M81I probably benign Het
Or8u10 T C 2: 85,915,844 (GRCm39) I92M probably damaging Het
Pkp2 T C 16: 16,058,577 (GRCm39) probably benign Het
Ppox C A 1: 171,106,849 (GRCm39) A192S possibly damaging Het
Prkdc T C 16: 15,531,517 (GRCm39) L1380S probably benign Het
Psd4 C A 2: 24,295,363 (GRCm39) A839E probably damaging Het
Ptprn2 T G 12: 116,685,711 (GRCm39) F57V probably damaging Het
Ptprt C T 2: 162,120,030 (GRCm39) V146I probably benign Het
R3hdm2 T A 10: 127,334,322 (GRCm39) M915K probably damaging Het
Rab26 C T 17: 24,749,759 (GRCm39) probably null Het
Rnf213 A G 11: 119,321,187 (GRCm39) E1215G probably benign Het
Rprd2 T C 3: 95,681,673 (GRCm39) K407E probably damaging Het
Siah3 G A 14: 75,693,574 (GRCm39) V27I possibly damaging Het
Slc14a2 T A 18: 78,235,338 (GRCm39) N280Y probably damaging Het
Slc25a35 A G 11: 68,862,786 (GRCm39) Y247C probably damaging Het
Slc29a4 A G 5: 142,691,285 (GRCm39) D55G probably benign Het
Slc35d1 C T 4: 103,065,378 (GRCm39) V189I probably benign Het
Srrm1 G A 4: 135,067,884 (GRCm39) R322* probably null Het
Stac3 A T 10: 127,339,519 (GRCm39) R138S probably damaging Het
Tbc1d9b T C 11: 50,026,751 (GRCm39) I73T probably benign Het
Tgtp1 A G 11: 48,878,159 (GRCm39) F182S probably benign Het
Tmcc3 T C 10: 94,381,437 (GRCm39) probably benign Het
Tmem116 A G 5: 121,631,845 (GRCm39) probably benign Het
Tmem260 T A 14: 48,720,779 (GRCm39) C306* probably null Het
Tspyl1 A G 10: 34,159,085 (GRCm39) N270S probably damaging Het
Tusc1 A T 4: 93,223,070 (GRCm39) H196Q probably benign Het
Ugt2a1 T A 5: 87,622,720 (GRCm39) K293* probably null Het
Vmn2r102 A C 17: 19,899,025 (GRCm39) T456P probably benign Het
Vmn2r90 T A 17: 17,932,511 (GRCm39) S139R probably benign Het
Zfp879 C A 11: 50,724,426 (GRCm39) G210V probably damaging Het
Zmym2 A G 14: 57,180,715 (GRCm39) N876D probably benign Het
Other mutations in Slc17a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00920:Slc17a3 APN 13 24,040,464 (GRCm39) missense probably benign 0.20
IGL02569:Slc17a3 APN 13 24,030,285 (GRCm39) missense probably damaging 1.00
IGL02628:Slc17a3 APN 13 24,026,434 (GRCm39) start codon destroyed probably null 1.00
IGL02745:Slc17a3 APN 13 24,026,469 (GRCm39) missense probably benign 0.01
IGL03001:Slc17a3 APN 13 24,040,767 (GRCm39) missense probably damaging 1.00
IGL03143:Slc17a3 APN 13 24,039,962 (GRCm39) splice site probably null
IGL03144:Slc17a3 APN 13 24,030,423 (GRCm39) missense probably benign 0.00
R0052:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0054:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0131:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0152:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0153:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0233:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0234:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0257:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0294:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0295:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0318:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0319:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0352:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0462:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0610:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0627:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0652:Slc17a3 UTSW 13 24,039,841 (GRCm39) missense probably damaging 1.00
R0765:Slc17a3 UTSW 13 24,030,879 (GRCm39) nonsense probably null
R1529:Slc17a3 UTSW 13 24,029,428 (GRCm39) missense probably damaging 1.00
R1532:Slc17a3 UTSW 13 24,040,483 (GRCm39) missense probably damaging 1.00
R1569:Slc17a3 UTSW 13 24,039,591 (GRCm39) missense probably benign 0.09
R1640:Slc17a3 UTSW 13 24,036,340 (GRCm39) nonsense probably null
R1643:Slc17a3 UTSW 13 24,041,181 (GRCm39) splice site probably benign
R1715:Slc17a3 UTSW 13 24,040,724 (GRCm39) missense probably benign 0.19
R2407:Slc17a3 UTSW 13 24,036,418 (GRCm39) critical splice donor site probably null
R2512:Slc17a3 UTSW 13 24,030,230 (GRCm39) missense probably benign 0.13
R3923:Slc17a3 UTSW 13 24,042,037 (GRCm39) missense possibly damaging 0.89
R4449:Slc17a3 UTSW 13 24,040,715 (GRCm39) missense probably damaging 0.99
R5166:Slc17a3 UTSW 13 24,026,525 (GRCm39) critical splice donor site probably null
R5748:Slc17a3 UTSW 13 24,040,449 (GRCm39) missense probably damaging 1.00
R5989:Slc17a3 UTSW 13 24,026,411 (GRCm39) start gained probably benign
R6281:Slc17a3 UTSW 13 24,040,782 (GRCm39) missense probably benign 0.17
R6811:Slc17a3 UTSW 13 24,039,924 (GRCm39) missense possibly damaging 0.61
R7283:Slc17a3 UTSW 13 24,039,831 (GRCm39) missense
R7341:Slc17a3 UTSW 13 24,030,867 (GRCm39) nonsense probably null
R7467:Slc17a3 UTSW 13 24,030,950 (GRCm39) critical splice donor site probably null
R7485:Slc17a3 UTSW 13 24,039,832 (GRCm39) missense
R8065:Slc17a3 UTSW 13 24,042,070 (GRCm39) missense unknown
R8770:Slc17a3 UTSW 13 24,039,607 (GRCm39) missense
R8809:Slc17a3 UTSW 13 24,039,575 (GRCm39) nonsense probably null
R8867:Slc17a3 UTSW 13 24,039,943 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- TGATTTATGATGACCCTGTCTCTCACCC -3'
(R):5'- ACTGTGACAGATGATGCAAACATGAAGA -3'

Sequencing Primer
(F):5'- TCTCTGAACCAACAGGTACATATAAG -3'
(R):5'- TGATGCAAACATGAAGAAGGAATG -3'
Posted On 2013-09-03