Incidental Mutation 'R3820:Slc17a4'
ID 274873
Institutional Source Beutler Lab
Gene Symbol Slc17a4
Ensembl Gene ENSMUSG00000021336
Gene Name solute carrier family 17 (sodium phosphate), member 4
Synonyms 9130214H05Rik
MMRRC Submission 040882-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R3820 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 24081862-24098992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24085752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 387 (R387H)
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: R387H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021769
Gene: ENSMUSG00000021336
AA Change: R387H

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: R387H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106037
Gene: ENSMUSG00000021336
AA Change: R387H

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 probably benign
Transcript: ENSMUST00000225797
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.8%
  • 20x: 96.4%
Validation Efficiency 96% (47/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik G T 18: 6,630,166 (GRCm39) probably null Het
Aarsd1 T A 11: 101,301,971 (GRCm39) I332F probably damaging Het
Abcd2 C T 15: 91,058,908 (GRCm39) G512D probably damaging Het
Adam6a T C 12: 113,507,798 (GRCm39) I57T probably benign Het
Adam6b C T 12: 113,453,984 (GRCm39) T267I probably benign Het
Ap1g2 G A 14: 55,338,030 (GRCm39) probably benign Het
Arhgap22 G A 14: 33,089,378 (GRCm39) E455K probably benign Het
Bltp1 G A 3: 37,094,583 (GRCm39) V917I probably damaging Het
Ccdc93 T C 1: 121,389,969 (GRCm39) I253T probably damaging Het
Cd44 T C 2: 102,731,738 (GRCm39) probably null Het
Cnot6 A T 11: 49,579,999 (GRCm39) S98T probably benign Het
Dnah9 C A 11: 65,741,829 (GRCm39) probably null Het
Edar T C 10: 58,457,185 (GRCm39) Y131C probably damaging Het
Eif5 A T 12: 111,506,618 (GRCm39) R43* probably null Het
Eml4 C A 17: 83,780,494 (GRCm39) T667K probably damaging Het
Fchsd1 A G 18: 38,102,510 (GRCm39) probably benign Het
Flt1 A G 5: 147,636,827 (GRCm39) probably benign Het
Frem2 T A 3: 53,424,270 (GRCm39) I3056F probably damaging Het
Hivep1 A T 13: 42,337,787 (GRCm39) H2622L possibly damaging Het
Ido2 T C 8: 25,023,771 (GRCm39) I356V probably benign Het
Insyn2b T C 11: 34,353,007 (GRCm39) S350P probably benign Het
Itgb3 C A 11: 104,524,438 (GRCm39) Y191* probably null Het
Kcnma1 T C 14: 23,350,006 (GRCm39) T1178A possibly damaging Het
Kcnt1 A G 2: 25,790,904 (GRCm39) H486R probably damaging Het
Kif21a T C 15: 90,852,277 (GRCm39) N950S probably benign Het
Lama1 C A 17: 68,086,041 (GRCm39) probably null Het
Lrrc4b T A 7: 44,111,982 (GRCm39) V618E probably damaging Het
Micall2 C T 5: 139,701,611 (GRCm39) G461D possibly damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Ncoa6 T A 2: 155,248,858 (GRCm39) N1482I probably damaging Het
Pcdhga10 A G 18: 37,880,995 (GRCm39) N252S probably damaging Het
Pcdhgb7 C A 18: 37,885,286 (GRCm39) T152K possibly damaging Het
Pds5a A G 5: 65,811,419 (GRCm39) V338A possibly damaging Het
Pds5b T C 5: 150,659,802 (GRCm39) V255A possibly damaging Het
Prkar2a T G 9: 108,624,155 (GRCm39) F391V probably damaging Het
Prr14l A G 5: 32,986,328 (GRCm39) C1056R probably damaging Het
Ptpn23 A G 9: 110,218,862 (GRCm39) probably benign Het
Serpinb5 T A 1: 106,802,802 (GRCm39) Y112* probably null Het
Tdrd5 A G 1: 156,113,053 (GRCm39) V409A probably benign Het
Tenm2 A T 11: 35,915,147 (GRCm39) I2129N probably damaging Het
Tmem8b C A 4: 43,689,745 (GRCm39) H800N probably damaging Het
Trpm3 A T 19: 22,964,813 (GRCm39) N1436I probably benign Het
Unc13c A T 9: 73,838,240 (GRCm39) S870R probably benign Het
Vmn2r16 C T 5: 109,510,143 (GRCm39) P509S probably benign Het
Vmn2r60 A T 7: 41,785,125 (GRCm39) E112D probably damaging Het
Xpnpep1 G A 19: 52,992,250 (GRCm39) probably benign Het
Zfp729a A T 13: 67,769,438 (GRCm39) C264S probably damaging Het
Zmynd8 T A 2: 165,657,381 (GRCm39) K521* probably null 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
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'- ATGGAGATGTAGCACCGATG -3'
(R):5'- CCTCCGACTTGTCACTATCAGG -3'

Sequencing Primer
(F):5'- AGATGTAGCACCGATGTTACTCTGC -3'
(R):5'- ATCAGGAAGCTCTTCACTGCTGTAG -3'
Posted On 2015-04-02