Incidental Mutation 'R1715:Slc17a3'
ID 190958
Institutional Source Beutler Lab
Gene Symbol Slc17a3
Ensembl Gene ENSMUSG00000036083
Gene Name solute carrier family 17 (sodium phosphate), member 3
Synonyms Npt4
MMRRC Submission 039748-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1715 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 24023417-24044699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 24040724 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 317 (T317S)
Ref Sequence ENSEMBL: ENSMUSP00000089290 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039721] [ENSMUST00000091698] [ENSMUST00000110422] [ENSMUST00000166467]
AlphaFold G3UWD9
Predicted Effect probably benign
Transcript: ENSMUST00000039721
AA Change: T395S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083
AA Change: T395S

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 benign
Transcript: ENSMUST00000091698
AA Change: T317S

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083
AA Change: T317S

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 benign
Transcript: ENSMUST00000110422
AA Change: T359S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083
AA Change: T359S

DomainStartEndE-ValueType
Pfam:MFS_1 39 425 6.7e-47 PFAM
transmembrane domain 453 475 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166467
AA Change: T395S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083
AA Change: T395S

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,982,406 (GRCm39) T12M probably damaging Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atp10a G A 7: 58,436,253 (GRCm39) V348I probably damaging Het
Best2 T C 8: 85,737,852 (GRCm39) Y181C probably benign Het
Btaf1 T A 19: 36,946,521 (GRCm39) D442E probably damaging Het
Carmil3 T G 14: 55,741,989 (GRCm39) V1153G probably benign Het
Cc2d2a A G 5: 43,876,003 (GRCm39) I993M probably damaging Het
Ccng1 G A 11: 40,642,941 (GRCm39) P169S probably benign Het
Cip2a C T 16: 48,826,082 (GRCm39) T383I probably benign Het
Cmtr2 T C 8: 110,949,430 (GRCm39) L580P probably damaging Het
Col22a1 T C 15: 71,878,830 (GRCm39) E109G possibly damaging Het
Cplane1 T A 15: 8,256,384 (GRCm39) probably null Het
Crispld2 G T 8: 120,750,388 (GRCm39) W264L possibly damaging Het
Cyp2c38 T C 19: 39,393,239 (GRCm39) H276R probably benign Het
Dag1 A T 9: 108,085,914 (GRCm39) V409E possibly damaging Het
Efcab15 T C 11: 103,090,650 (GRCm39) probably null Het
Emc8 T C 8: 121,385,294 (GRCm39) N146S probably benign Het
Glt8d1 T C 14: 30,733,478 (GRCm39) V321A possibly damaging Het
Gm5174 C T 10: 86,492,776 (GRCm39) noncoding transcript Het
Hdac10 G T 15: 89,010,912 (GRCm39) probably null Het
Hectd4 A G 5: 121,482,881 (GRCm39) D3144G possibly damaging Het
Ifna11 C T 4: 88,738,473 (GRCm39) S93L probably damaging Het
Il16 T C 7: 83,297,936 (GRCm39) N431S probably benign Het
Irf8 A T 8: 121,481,127 (GRCm39) E237V probably damaging Het
Lrp1b A G 2: 41,075,993 (GRCm39) Y1769H probably damaging Het
Lrrc9 A G 12: 72,524,073 (GRCm39) N761D probably damaging Het
Mbtps1 T C 8: 120,269,469 (GRCm39) Y207C probably benign Het
Myo9a A G 9: 59,739,583 (GRCm39) E765G probably damaging Het
Nlrp3 A G 11: 59,434,177 (GRCm39) D80G probably damaging Het
Or12k8 G A 2: 36,975,188 (GRCm39) P191S probably damaging Het
Or2ag15 G C 7: 106,340,755 (GRCm39) P129A probably damaging Het
Or7g18 A T 9: 18,787,090 (GRCm39) I156F probably benign Het
Pcyt2 T A 11: 120,506,677 (GRCm39) probably null Het
Plxnd1 T C 6: 115,945,642 (GRCm39) T944A probably benign Het
Prss3b A G 6: 41,009,870 (GRCm39) probably null Het
Psd4 A T 2: 24,295,344 (GRCm39) I833F probably damaging Het
Psmd7 A G 8: 108,307,817 (GRCm39) I222T probably benign Het
Rap2b A G 3: 61,272,611 (GRCm39) E45G probably damaging Het
Rbm22 T C 18: 60,693,916 (GRCm39) S7P possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rfx4 A G 10: 84,680,144 (GRCm39) N107S probably damaging Het
Ripk2 T A 4: 16,155,192 (GRCm39) probably null Het
Rpgrip1 T A 14: 52,378,148 (GRCm39) C499S possibly damaging Het
Scarf1 T C 11: 75,414,870 (GRCm39) S515P probably damaging Het
Sgip1 T C 4: 102,772,256 (GRCm39) V215A probably benign Het
Sis T C 3: 72,796,343 (GRCm39) I1813V possibly damaging Het
Slc35e1 T C 8: 73,237,821 (GRCm39) N340S probably benign Het
Smg6 A G 11: 74,820,256 (GRCm39) I176V probably benign Het
Smim17 T C 7: 6,432,325 (GRCm39) L89S probably damaging Het
Synm T C 7: 67,386,051 (GRCm39) N95S probably damaging Het
Tdrd9 A G 12: 112,002,873 (GRCm39) K841E possibly damaging Het
Tep1 G T 14: 51,092,024 (GRCm39) F570L possibly damaging Het
Tgm3 G A 2: 129,868,734 (GRCm39) probably null Het
Tra2b T C 16: 22,071,496 (GRCm39) Y128C possibly damaging Het
Vmn2r17 T C 5: 109,576,110 (GRCm39) V327A probably benign Het
Wdr20rt A T 12: 65,274,088 (GRCm39) D344V probably damaging Het
Zfp940 A G 7: 29,544,363 (GRCm39) C515R probably damaging 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
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
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'- GAGATTGCCAACACGTTTGCTCC -3'
(R):5'- GGCTCCCAGAACATTATAGGCTGC -3'

Sequencing Primer
(F):5'- CTGGCAGATTTTCTACTGAGCAAG -3'
(R):5'- GCTTTTTTCCCCAGAAAATGTG -3'
Posted On 2014-05-14