Incidental Mutation 'R0627:Slc17a3'
ID 57641
Institutional Source Beutler Lab
Gene Symbol Slc17a3
Ensembl Gene ENSMUSG00000036083
Gene Name solute carrier family 17 (sodium phosphate), member 3
Synonyms Npt4
MMRRC Submission 038816-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0627 (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: 99.3%
  • 3x: 98.8%
  • 10x: 97.2%
  • 20x: 94.2%
Validation Efficiency 99% (111/112)
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adm2 T A 15: 89,208,508 (GRCm39) Y149* probably null Het
Ahi1 G A 10: 20,841,421 (GRCm39) R236H probably benign Het
Armcx4 A G X: 133,596,572 (GRCm39) N2160S possibly damaging Het
Asns A T 6: 7,675,516 (GRCm39) D495E probably benign Het
Atosb G T 4: 43,036,242 (GRCm39) P163Q probably damaging Het
Bcl9 A G 3: 97,112,789 (GRCm39) V1222A probably damaging Het
Cd46 A T 1: 194,774,494 (GRCm39) C14S probably benign Het
Cdk11b T A 4: 155,725,229 (GRCm39) probably benign Het
Cdkl3 T C 11: 51,902,135 (GRCm39) Y115H probably damaging Het
Cep41 C A 6: 30,656,630 (GRCm39) C274F probably damaging Het
Ces1a C A 8: 93,768,671 (GRCm39) V108F probably benign Het
Clca4b A G 3: 144,634,020 (GRCm39) Y132H probably benign Het
Col5a3 T C 9: 20,686,781 (GRCm39) E1323G unknown Het
Cttnbp2 A G 6: 18,367,372 (GRCm39) *1139Q probably null Het
Cyp2d9 T A 15: 82,339,991 (GRCm39) I127N probably damaging Het
Dennd1b A G 1: 139,008,957 (GRCm39) Y220C probably damaging Het
Desi2 T C 1: 178,076,918 (GRCm39) S141P possibly damaging Het
Dgcr2 A G 16: 17,661,872 (GRCm39) S453P probably damaging Het
Dnah3 A G 7: 119,620,138 (GRCm39) L1586P probably damaging Het
Dpep3 T C 8: 106,705,363 (GRCm39) D129G possibly damaging Het
Eci3 C T 13: 35,132,126 (GRCm39) V241I possibly damaging Het
Ecm2 A T 13: 49,674,559 (GRCm39) probably benign Het
Emilin3 A G 2: 160,750,096 (GRCm39) L551P probably damaging Het
Erap1 A C 13: 74,823,933 (GRCm39) probably benign Het
Ern1 T C 11: 106,289,519 (GRCm39) D928G probably benign Het
Fancc C A 13: 63,465,292 (GRCm39) A472S probably damaging Het
Fkbp7 A T 2: 76,503,188 (GRCm39) D57E probably damaging Het
Gabbr2 T A 4: 46,681,223 (GRCm39) I703F possibly damaging Het
Gabrg3 A T 7: 56,374,343 (GRCm39) C408S probably damaging Het
Gm8674 T C 13: 50,053,751 (GRCm39) noncoding transcript Het
Gnas G A 2: 174,139,928 (GRCm39) probably benign Het
Grhl3 A G 4: 135,279,992 (GRCm39) V354A probably benign Het
Gsdme G T 6: 50,206,259 (GRCm39) probably benign Het
H2-D1 A G 17: 35,484,898 (GRCm39) E253G probably damaging Het
Habp2 A G 19: 56,302,478 (GRCm39) T31A probably damaging Het
Ifrd1 A G 12: 40,256,986 (GRCm39) probably null Het
Il20 A G 1: 130,837,476 (GRCm39) probably benign Het
Isx A T 8: 75,619,328 (GRCm39) I160F possibly damaging Het
Itgb2l T G 16: 96,224,111 (GRCm39) probably benign Het
Kcnv1 T G 15: 44,976,277 (GRCm39) probably benign Het
Kif17 T C 4: 138,015,798 (GRCm39) probably null Het
Kirrel3 A C 9: 34,946,470 (GRCm39) D743A probably damaging Het
Lmod3 T C 6: 97,225,032 (GRCm39) D263G probably damaging Het
Manf A G 9: 106,766,385 (GRCm39) L132P probably damaging Het
Mark2 C T 19: 7,259,325 (GRCm39) probably null Het
Med10 G A 13: 69,963,720 (GRCm39) S107N possibly damaging Het
Med31 A G 11: 72,104,601 (GRCm39) probably null Het
Mki67 C A 7: 135,309,987 (GRCm39) A155S probably benign Het
Mprip T A 11: 59,660,798 (GRCm39) L2193Q probably damaging Het
Mylk A G 16: 34,820,799 (GRCm39) N126S probably damaging Het
Myo16 A G 8: 10,489,689 (GRCm39) I715V probably benign Het
Myo18b T C 5: 112,946,700 (GRCm39) T1591A probably benign Het
Myt1 T A 2: 181,437,482 (GRCm39) D64E probably benign Het
Ndufa10 A T 1: 92,397,618 (GRCm39) Y61N probably damaging Het
Nob1 A G 8: 108,142,856 (GRCm39) F275S probably damaging Het
Nop2 T C 6: 125,116,667 (GRCm39) V333A possibly damaging Het
Ogdh T A 11: 6,297,216 (GRCm39) V545D possibly damaging Het
Or1l4b T G 2: 37,036,342 (GRCm39) N39K probably damaging Het
Or4p21 A G 2: 88,276,563 (GRCm39) S240P probably damaging Het
Or5b107 A G 19: 13,142,614 (GRCm39) T79A probably benign Het
Or5t16 T C 2: 86,819,358 (GRCm39) N54S probably benign Het
Or6d13 T A 6: 116,517,949 (GRCm39) N178K possibly damaging Het
Or6n2 G T 1: 173,897,643 (GRCm39) V260F probably damaging Het
Or9k2b A G 10: 130,016,557 (GRCm39) F64S probably damaging Het
Pcdhb1 T C 18: 37,398,774 (GRCm39) F242L probably damaging Het
Pkd2l2 A G 18: 34,558,155 (GRCm39) Y278C probably damaging Het
Plxdc1 T A 11: 97,823,030 (GRCm39) probably null Het
Ppp2r5b A G 19: 6,282,664 (GRCm39) probably benign Het
Pramel31 C A 4: 144,089,416 (GRCm39) L245I probably benign Het
Prelid2 T A 18: 42,070,717 (GRCm39) T39S possibly damaging Het
Prkd1 A T 12: 50,536,824 (GRCm39) F87I probably benign Het
Prl3d3 C T 13: 27,340,830 (GRCm39) T4I probably damaging Het
Proser3 T A 7: 30,240,208 (GRCm39) T299S probably benign Het
Ptprc G T 1: 137,996,058 (GRCm39) H1095N probably damaging Het
Rab11fip5 G T 6: 85,325,033 (GRCm39) P425T probably benign Het
Rac2 T C 15: 78,449,168 (GRCm39) T115A probably damaging Het
Rtl9 C A X: 141,884,271 (GRCm39) T561K possibly damaging Het
Runx2 T C 17: 44,969,392 (GRCm39) probably benign Het
Rxfp1 C T 3: 79,555,518 (GRCm39) V613I probably benign Het
Scn9a T C 2: 66,367,721 (GRCm39) K656R probably benign Het
Sec31b A G 19: 44,514,046 (GRCm39) S406P probably benign Het
Septin5 T C 16: 18,444,115 (GRCm39) D44G possibly damaging Het
Slc35c2 T C 2: 165,124,056 (GRCm39) T94A possibly damaging Het
Slc8a3 T A 12: 81,361,616 (GRCm39) D401V probably damaging Het
Slitrk1 A T 14: 109,149,671 (GRCm39) C347S probably damaging Het
Smg1 G T 7: 117,767,084 (GRCm39) probably benign Het
Snx14 T C 9: 88,276,483 (GRCm39) K610E probably benign Het
Spata31e2 A G 1: 26,724,970 (GRCm39) M70T probably benign Het
Sppl2a A G 2: 126,762,337 (GRCm39) probably benign Het
Stk-ps2 T A 1: 46,068,851 (GRCm39) noncoding transcript Het
Sult3a1 T C 10: 33,740,010 (GRCm39) M23T probably benign Het
Syt5 A G 7: 4,548,682 (GRCm39) L50P possibly damaging Het
Tacr1 A G 6: 82,532,012 (GRCm39) I303V possibly damaging Het
Trip12 C A 1: 84,746,318 (GRCm39) V487F probably damaging Het
Vcp A G 4: 42,983,011 (GRCm39) S612P possibly damaging Het
Vmn1r47 A G 6: 89,999,788 (GRCm39) I307V probably null Het
Vmn1r83 T G 7: 12,055,919 (GRCm39) D46A probably damaging Het
Vmn2r118 G T 17: 55,917,772 (GRCm39) Q247K probably benign Het
Vmn2r94 C T 17: 18,477,427 (GRCm39) C328Y probably damaging Het
Vps13b T A 15: 35,372,145 (GRCm39) Y13* probably null Het
Vps13d C T 4: 144,813,754 (GRCm39) R3241H probably damaging Het
Wdr5b A G 16: 35,862,840 (GRCm39) T320A probably benign Het
Zfhx2 A T 14: 55,302,784 (GRCm39) D1733E probably benign Het
Zfp541 A G 7: 15,829,607 (GRCm39) probably benign Het
Zfp708 A T 13: 67,218,781 (GRCm39) Y314* probably null 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
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
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 2013-07-11