Incidental Mutation 'R1490:Slc17a4'
ID 163670
Institutional Source Beutler Lab
Gene Symbol Slc17a4
Ensembl Gene ENSMUSG00000021336
Gene Name solute carrier family 17 (sodium phosphate), member 4
Synonyms 9130214H05Rik
MMRRC Submission 039542-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1490 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 24081862-24098992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24088736 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 217 (I217T)
Ref Sequence ENSEMBL: ENSMUSP00000106037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021769] [ENSMUST00000110407] [ENSMUST00000225797]
AlphaFold Q5NCM1
Predicted Effect probably benign
Transcript: ENSMUST00000021769
AA Change: I217T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000021769
Gene: ENSMUSG00000021336
AA Change: I217T

DomainStartEndE-ValueType
Pfam:MFS_1 40 373 1.4e-48 PFAM
Pfam:MFS_1 361 492 2.4e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110407
AA Change: I217T

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106037
Gene: ENSMUSG00000021336
AA Change: I217T

DomainStartEndE-ValueType
Pfam:MFS_1 40 371 1.7e-47 PFAM
Pfam:MFS_1 359 490 3.9e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224360
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225763
Predicted Effect unknown
Transcript: ENSMUST00000225797
AA Change: F188L
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphate homeostasis is maintained by regulating intake, intestinal absorption, bone deposition and resorption, and renal excretion of phosphate. The central molecule in the control of phosphate excretion from the kidney is the sodium/phosphate cotransporter NPT1 (SLC17A1; MIM 182308), which is located in the renal proximal tubule. NPT1 uses the transmembrane electrochemical potential gradient of sodium to transport phosphate across the cell membrane. SLC17A4 is a similar sodium/phosphate cotransporter in the intestinal mucosa that plays an important role in the absorption of phosphate from the intestine (summary by Shibui et al., 1999 [PubMed 10319585]).[supplied by OMIM, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1l2 G A 10: 83,356,234 (GRCm39) T52I probably damaging Het
Arhgef28 G A 13: 98,114,952 (GRCm39) R633W probably damaging Het
Atg9a T C 1: 75,162,389 (GRCm39) N507S possibly damaging Het
Bsn A G 9: 107,991,193 (GRCm39) S1520P probably benign Het
Cacul1 G T 19: 60,568,837 (GRCm39) A107E probably damaging Het
Cd74 A G 18: 60,944,438 (GRCm39) D216G probably damaging Het
Cdh16 A T 8: 105,348,702 (GRCm39) W109R probably damaging Het
Cdip1 C T 16: 4,586,775 (GRCm39) V100I probably damaging Het
Ceacam3 A G 7: 16,897,071 (GRCm39) D679G probably damaging Het
Comp A G 8: 70,826,563 (GRCm39) D46G possibly damaging Het
Dlx3 T C 11: 95,011,430 (GRCm39) Y95H probably benign Het
Dmrta2 T C 4: 109,837,072 (GRCm39) S5P unknown Het
E130308A19Rik A G 4: 59,719,746 (GRCm39) Y426C probably damaging Het
Entpd3 A G 9: 120,383,225 (GRCm39) S87G probably benign Het
Eps8l1 A G 7: 4,473,888 (GRCm39) R232G probably damaging Het
Gart A T 16: 91,421,232 (GRCm39) V812D probably damaging Het
Gm10153 C T 7: 141,743,879 (GRCm39) C83Y unknown Het
Gpd2 T C 2: 57,245,487 (GRCm39) V394A probably damaging Het
Hpcal1 A T 12: 17,836,225 (GRCm39) E18D probably benign Het
Mdga2 T C 12: 66,844,530 (GRCm39) D156G probably benign Het
Mks1 A G 11: 87,753,595 (GRCm39) K510E probably benign Het
Ms4a19 A G 19: 11,118,902 (GRCm39) I69T probably benign Het
Mtmr4 G A 11: 87,503,051 (GRCm39) R1035Q probably damaging Het
Myh6 T A 14: 55,200,175 (GRCm39) K235* probably null Het
Nedd1 A G 10: 92,536,660 (GRCm39) F214S probably damaging Het
Or1e32 A G 11: 73,705,197 (GRCm39) V237A possibly damaging Het
Or1o3 A G 17: 37,573,733 (GRCm39) M274T probably benign Het
Or2l13 T C 16: 19,305,672 (GRCm39) M28T probably benign Het
Or52e15 A G 7: 104,645,700 (GRCm39) I137T possibly damaging Het
Pfkfb2 A C 1: 130,625,626 (GRCm39) probably null Het
Pfkfb4 T C 9: 108,856,688 (GRCm39) L398P probably damaging Het
Pfn3 T G 13: 55,562,732 (GRCm39) D83A probably damaging Het
Pi4ka C A 16: 17,204,132 (GRCm39) W54L probably damaging Het
Ppp3r1 A G 11: 17,148,275 (GRCm39) D161G probably benign Het
Prrc2a A G 17: 35,372,230 (GRCm39) S1757P probably benign Het
Samd7 A G 3: 30,812,502 (GRCm39) E314G probably benign Het
Slc22a1 A T 17: 12,881,780 (GRCm39) probably null Het
Slc7a7 C T 14: 54,646,103 (GRCm39) R120H probably damaging Het
Sos1 A T 17: 80,721,104 (GRCm39) H905Q probably benign Het
Thada G A 17: 84,754,029 (GRCm39) T314I possibly damaging Het
Tirap ACTGCTGCTGCTGCTGCTG ACTGCTGCTGCTGCTG 9: 35,100,362 (GRCm39) probably benign Het
Tlr11 A C 14: 50,600,633 (GRCm39) H873P probably benign Het
Tlr4 A T 4: 66,757,611 (GRCm39) T135S possibly damaging Het
Tmem116 T C 5: 121,633,174 (GRCm39) S183P probably damaging Het
Tubgcp3 A T 8: 12,689,550 (GRCm39) I572K probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Ush2a C T 1: 188,092,038 (GRCm39) T523I probably benign Het
Usp40 G A 1: 87,916,687 (GRCm39) Q364* probably null Het
Vmn1r61 T C 7: 5,614,242 (GRCm39) Q24R probably benign Het
Wdfy4 C A 14: 32,874,495 (GRCm39) probably null Het
Zfp458 G A 13: 67,405,573 (GRCm39) P286S probably damaging Het
Zfp68 A T 5: 138,605,091 (GRCm39) C373S probably benign Het
Zfp768 T A 7: 126,942,803 (GRCm39) I442F probably damaging Het
Zfp990 A G 4: 145,263,853 (GRCm39) R284G probably benign Het
Other mutations in Slc17a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01724:Slc17a4 APN 13 24,089,516 (GRCm39) missense probably benign 0.06
IGL02976:Slc17a4 APN 13 24,089,407 (GRCm39) missense probably damaging 0.99
PIT4581001:Slc17a4 UTSW 13 24,086,001 (GRCm39) missense probably damaging 0.99
PIT4696001:Slc17a4 UTSW 13 24,084,497 (GRCm39) missense probably benign 0.02
R1726:Slc17a4 UTSW 13 24,089,574 (GRCm39) nonsense probably null
R1866:Slc17a4 UTSW 13 24,084,528 (GRCm39) missense possibly damaging 0.67
R3820:Slc17a4 UTSW 13 24,085,752 (GRCm39) missense probably benign
R3821:Slc17a4 UTSW 13 24,085,752 (GRCm39) missense probably benign
R3837:Slc17a4 UTSW 13 24,085,752 (GRCm39) missense probably benign
R3838:Slc17a4 UTSW 13 24,085,752 (GRCm39) missense probably benign
R3839:Slc17a4 UTSW 13 24,085,752 (GRCm39) missense probably benign
R5347:Slc17a4 UTSW 13 24,092,800 (GRCm39) missense possibly damaging 0.63
R5489:Slc17a4 UTSW 13 24,082,825 (GRCm39) splice site probably null
R6607:Slc17a4 UTSW 13 24,089,397 (GRCm39) splice site probably null
R7614:Slc17a4 UTSW 13 24,090,580 (GRCm39) missense probably benign 0.02
R7730:Slc17a4 UTSW 13 24,084,503 (GRCm39) nonsense probably null
R7744:Slc17a4 UTSW 13 24,085,767 (GRCm39) missense probably benign 0.08
R8532:Slc17a4 UTSW 13 24,088,718 (GRCm39) missense probably damaging 1.00
R8802:Slc17a4 UTSW 13 24,089,274 (GRCm39) missense probably damaging 1.00
R8804:Slc17a4 UTSW 13 24,087,245 (GRCm39) missense probably benign 0.01
R9454:Slc17a4 UTSW 13 24,085,910 (GRCm39) missense probably benign 0.05
R9628:Slc17a4 UTSW 13 24,089,512 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- gccatctttccagctccAAGAATACTAA -3'
(R):5'- AGTACTGTCCAAGAGAATACTCGGCAA -3'

Sequencing Primer
(F):5'- ACCTTGACTAATTTTGGACATTGC -3'
(R):5'- tgcctacattcatttattttaccctc -3'
Posted On 2014-03-28