Incidental Mutation 'R9628:Slc17a4'
ID 725300
Institutional Source Beutler Lab
Gene Symbol Slc17a4
Ensembl Gene ENSMUSG00000021336
Gene Name solute carrier family 17 (sodium phosphate), member 4
Synonyms 9130214H05Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R9628 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 24081862-24098992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24089512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 135 (V135A)
Ref Sequence ENSEMBL: ENSMUSP00000106037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021769] [ENSMUST00000110407] [ENSMUST00000225797]
AlphaFold Q5NCM1
Predicted Effect possibly damaging
Transcript: ENSMUST00000021769
AA Change: V135A

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021769
Gene: ENSMUSG00000021336
AA Change: V135A

DomainStartEndE-ValueType
Pfam:MFS_1 40 373 1.4e-48 PFAM
Pfam:MFS_1 361 492 2.4e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110407
AA Change: V135A

PolyPhen 2 Score 0.590 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000106037
Gene: ENSMUSG00000021336
AA Change: V135A

DomainStartEndE-ValueType
Pfam:MFS_1 40 371 1.7e-47 PFAM
Pfam:MFS_1 359 490 3.9e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000225797
AA Change: V135A

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 T C 16: 56,553,193 (GRCm39) N635D probably damaging Het
Ankrd13c G C 3: 157,653,313 (GRCm39) K50N probably benign Het
Arhgef38 T C 3: 132,838,025 (GRCm39) Y635C unknown Het
Avl9 T A 6: 56,713,460 (GRCm39) Y239* probably null Het
C2cd3 T A 7: 100,097,961 (GRCm39) H1449Q Het
Ccdc141 G A 2: 76,844,838 (GRCm39) P1410S probably damaging Het
Ccz1 G A 5: 143,925,043 (GRCm39) T471M possibly damaging Het
Cdh26 T C 2: 178,083,213 (GRCm39) S27P Het
Cdk11b T G 4: 155,734,154 (GRCm39) D756E unknown Het
Celsr3 C A 9: 108,703,559 (GRCm39) S14* probably null Het
Cntrob T C 11: 69,213,782 (GRCm39) T3A possibly damaging Het
Cracd A G 5: 77,004,923 (GRCm39) E428G unknown Het
Csde1 T C 3: 102,962,825 (GRCm39) V738A probably benign Het
Dazap1 T C 10: 80,118,999 (GRCm39) Y230H unknown Het
Dip2a A G 10: 76,142,993 (GRCm39) I264T probably damaging Het
Dleu7 C A 14: 62,530,144 (GRCm39) A86S possibly damaging Het
Dnmbp T A 19: 43,858,646 (GRCm39) D132V probably damaging Het
Dppa4 T C 16: 48,111,672 (GRCm39) V219A probably benign Het
Dsg1c T A 18: 20,397,373 (GRCm39) I27N probably damaging Het
Egr4 T C 6: 85,489,292 (GRCm39) Y256C probably benign Het
Ess2 A T 16: 17,720,757 (GRCm39) M363K probably damaging Het
Fam124a A G 14: 62,825,010 (GRCm39) E168G probably damaging Het
Gata4 T C 14: 63,478,545 (GRCm39) Y18C probably damaging Het
Gckr C A 5: 31,457,934 (GRCm39) A147D probably damaging Het
H1f8 G A 6: 115,924,700 (GRCm39) V69I probably damaging Het
Hook1 T C 4: 95,901,560 (GRCm39) L506P probably damaging Het
Hormad2 G A 11: 4,377,372 (GRCm39) P22L probably damaging Het
Larp1b T C 3: 40,916,103 (GRCm39) probably null Het
Ldhb T C 6: 142,439,862 (GRCm39) E226G probably damaging Het
Lpar5 T G 6: 125,058,948 (GRCm39) V223G probably damaging Het
Lrrc37a A G 11: 103,394,330 (GRCm39) V365A probably benign Het
Lrrtm3 T C 10: 63,923,776 (GRCm39) K464E probably damaging Het
Ly75 A G 2: 60,158,285 (GRCm39) I1000T probably damaging Het
Myo1d C A 11: 80,448,296 (GRCm39) G943V possibly damaging Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nphp4 T C 4: 152,568,966 (GRCm39) L35P probably damaging Het
Nptx2 G A 5: 144,490,261 (GRCm39) R230H probably benign Het
Ntsr1 G A 2: 180,183,274 (GRCm39) R328H probably damaging Het
Or1e25 G A 11: 73,493,864 (GRCm39) V153I probably benign Het
Or4c111 A G 2: 88,843,670 (GRCm39) V246A probably damaging Het
Or8b1 T G 9: 38,399,871 (GRCm39) L182R probably benign Het
Padi6 G A 4: 140,464,626 (GRCm39) T201I probably damaging Het
Plscr4 C T 9: 92,354,985 (GRCm39) T13I possibly damaging Het
Ppp6r1 G A 7: 4,636,112 (GRCm39) A782V probably benign Het
Rab18 G A 18: 6,788,647 (GRCm39) V205M probably benign Het
Rhobtb1 T C 10: 69,106,653 (GRCm39) V468A probably damaging Het
Rhox8 GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT GCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT X: 36,966,991 (GRCm39) probably benign Het
Scaf11 A T 15: 96,317,398 (GRCm39) I722N probably benign Het
Slc30a5 A G 13: 100,961,422 (GRCm39) probably null Het
Slc5a6 T C 5: 31,197,746 (GRCm39) Y321C probably benign Het
Spag7 A T 11: 70,555,186 (GRCm39) D178E probably benign Het
Swsap1 T G 9: 21,867,172 (GRCm39) S39A Het
Tank A G 2: 61,483,876 (GRCm39) T441A probably benign Het
Tor1aip1 C A 1: 155,893,320 (GRCm39) G276* probably null Het
Usp47 G A 7: 111,705,999 (GRCm39) M1220I probably benign Het
Vmn1r43 G A 6: 89,846,877 (GRCm39) T203M probably damaging Het
Vmn2r35 A G 7: 7,815,702 (GRCm39) V489A probably benign Het
Wif1 T C 10: 120,932,549 (GRCm39) V309A possibly damaging Het
Xpo4 T C 14: 57,842,630 (GRCm39) N434D probably damaging Het
Zfp462 A T 4: 55,009,423 (GRCm39) H463L 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
R1490:Slc17a4 UTSW 13 24,088,736 (GRCm39) missense probably benign 0.29
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
Predicted Primers PCR Primer
(F):5'- CATTTGGCCCACAGTGAGTAC -3'
(R):5'- GGCTCACTGTGAATAGTCAACAGC -3'

Sequencing Primer
(F):5'- CCATAACCTGGGGGAAATTTTCC -3'
(R):5'- CGGCTATAATTTCAAGACTCTGGAGG -3'
Posted On 2022-09-12