Incidental Mutation 'R8802:Slc17a4'
ID 671577
Institutional Source Beutler Lab
Gene Symbol Slc17a4
Ensembl Gene ENSMUSG00000021336
Gene Name solute carrier family 17 (sodium phosphate), member 4
Synonyms 9130214H05Rik
MMRRC Submission 068639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R8802 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 24081862-24098992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 24089274 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 186 (W186R)
Ref Sequence ENSEMBL: ENSMUSP00000106037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021769] [ENSMUST00000110407] [ENSMUST00000225797]
AlphaFold Q5NCM1
Predicted Effect probably damaging
Transcript: ENSMUST00000021769
AA Change: W186R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021769
Gene: ENSMUSG00000021336
AA Change: W186R

DomainStartEndE-ValueType
Pfam:MFS_1 40 373 1.4e-48 PFAM
Pfam:MFS_1 361 492 2.4e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110407
AA Change: W186R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106037
Gene: ENSMUSG00000021336
AA Change: W186R

DomainStartEndE-ValueType
Pfam:MFS_1 40 371 1.7e-47 PFAM
Pfam:MFS_1 359 490 3.9e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000225797
Meta Mutation Damage Score 0.8914 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (59/59)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,249,415 (GRCm39) T83A possibly damaging Het
Abcc6 A G 7: 45,658,283 (GRCm39) L451P probably damaging Het
Ak5 T C 3: 152,321,631 (GRCm39) E252G probably damaging Het
Atg4a-ps T A 3: 103,552,686 (GRCm39) K218N probably damaging Het
Bglap2 T A 3: 88,285,568 (GRCm39) M35L probably benign Het
Bicral A G 17: 47,135,626 (GRCm39) M528T probably benign Het
Cdh23 A G 10: 60,244,877 (GRCm39) V1008A probably benign Het
Chil6 A T 3: 106,312,208 (GRCm39) L31Q probably damaging Het
Ctnnd2 T C 15: 30,967,022 (GRCm39) V991A probably damaging Het
Dcc T C 18: 71,959,125 (GRCm39) N216D probably damaging Het
Dcdc2c T A 12: 28,576,720 (GRCm39) D106V probably benign Het
Dchs2 T C 3: 83,253,544 (GRCm39) I2318T probably benign Het
Fat2 A G 11: 55,173,750 (GRCm39) F2321S possibly damaging Het
Fbxw7 T C 3: 84,859,693 (GRCm39) V5A unknown Het
Fn3krp T C 11: 121,315,813 (GRCm39) V68A probably damaging Het
Gcn1 T C 5: 115,747,942 (GRCm39) L1783P probably damaging Het
Gdf6 C T 4: 9,844,769 (GRCm39) H98Y probably damaging Het
Gm13271 C A 4: 88,673,247 (GRCm39) P48Q probably damaging Het
Gm4871 A T 5: 144,966,876 (GRCm39) N202K probably benign Het
Gucy1a2 G A 9: 3,635,050 (GRCm39) V365I probably benign Het
Hadhb C T 5: 30,378,831 (GRCm39) Q157* probably null Het
Hivep2 C T 10: 14,015,166 (GRCm39) R1778C probably damaging Het
Hmcn2 T A 2: 31,301,288 (GRCm39) V2845E probably damaging Het
Hps3 T A 3: 20,074,070 (GRCm39) I431L probably damaging Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Igkv12-38 A T 6: 69,920,390 (GRCm39) C43S probably damaging Het
Jph2 T A 2: 163,239,184 (GRCm39) H88L probably damaging Het
Kmt2b G A 7: 30,283,496 (GRCm39) R955W probably damaging Het
Lrrc4c A G 2: 97,460,603 (GRCm39) T410A possibly damaging Het
Ltf C T 9: 110,850,018 (GRCm39) P14S probably benign Het
Mapk8ip3 G A 17: 25,124,206 (GRCm39) R521C probably damaging Het
Nampt C A 12: 32,900,435 (GRCm39) T460K probably benign Het
Nek9 T C 12: 85,374,192 (GRCm39) I282V probably benign Het
Ninl A T 2: 150,777,172 (GRCm39) V1394E probably damaging Het
Obox6 G A 7: 15,567,772 (GRCm39) S225L probably damaging Het
Or6k4 A G 1: 173,964,616 (GRCm39) Y102C probably damaging Het
Pcdha4 A G 18: 37,087,211 (GRCm39) K465E possibly damaging Het
Pex11g T C 8: 3,507,308 (GRCm39) K151R unknown Het
Pld2 T C 11: 70,446,824 (GRCm39) L811P probably damaging Het
Pum2 C T 12: 8,778,726 (GRCm39) R459* probably null Het
Ralgapa1 T C 12: 55,785,101 (GRCm39) S720G probably damaging Het
Rbbp6 T A 7: 122,587,680 (GRCm39) probably benign Het
Rbl1 A G 2: 157,038,073 (GRCm39) probably null Het
Reln G T 5: 22,130,257 (GRCm39) R2685S probably damaging Het
Rnf213 T C 11: 119,352,928 (GRCm39) F3942L Het
Rpusd2 T C 2: 118,865,378 (GRCm39) V25A probably benign Het
Rusc1 T A 3: 88,999,540 (GRCm39) I81L probably benign Het
Serpinb9b A G 13: 33,213,587 (GRCm39) E48G probably benign Het
Skil C T 3: 31,167,592 (GRCm39) P408L probably damaging Het
Syvn1 T C 19: 6,097,968 (GRCm39) F2S probably benign Het
Tmc6 T C 11: 117,665,901 (GRCm39) M338V possibly damaging Het
Tnfrsf17 A T 16: 11,137,819 (GRCm39) R185S possibly damaging Het
Utp20 T C 10: 88,583,157 (GRCm39) K2732R probably damaging Het
Vmn1r58 A T 7: 5,414,080 (GRCm39) V50E probably damaging Het
Vmn2r114 T A 17: 23,528,836 (GRCm39) D422V possibly damaging Het
Vmn2r83 A T 10: 79,314,261 (GRCm39) I170F probably benign Het
Xdh C T 17: 74,225,405 (GRCm39) V466I probably benign Het
Xndc1 A G 7: 101,720,539 (GRCm39) I6V possibly damaging Het
Zbtb38 T C 9: 96,567,623 (GRCm39) T1154A probably benign Het
Zfp160 T A 17: 21,246,867 (GRCm39) H472Q probably damaging Het
Zfp438 T A 18: 5,213,417 (GRCm39) T514S possibly damaging 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
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'- GGTGCATTATTAACATGCTGTTCTG -3'
(R):5'- TGGAGCCAAGTACGTGGTTG -3'

Sequencing Primer
(F):5'- CATGCTGTTCTGATCACAAAAGATC -3'
(R):5'- ATTCCACTGGCAGCTGATG -3'
Posted On 2021-04-30