Incidental Mutation 'PIT4696001:Slc17a4'
ID 556811
Institutional Source Beutler Lab
Gene Symbol Slc17a4
Ensembl Gene ENSMUSG00000021336
Gene Name solute carrier family 17 (sodium phosphate), member 4
Synonyms 9130214H05Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # PIT4696001 (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 T at 24084497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 429 (V429D)
Ref Sequence ENSEMBL: ENSMUSP00000106037 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006785] [ENSMUST00000021769] [ENSMUST00000110407] [ENSMUST00000110413] [ENSMUST00000225797]
AlphaFold Q5NCM1
Predicted Effect probably benign
Transcript: ENSMUST00000006785
SMART Domains Protein: ENSMUSP00000006785
Gene: ENSMUSG00000021335

DomainStartEndE-ValueType
Pfam:MFS_1 24 412 2.7e-48 PFAM
transmembrane domain 430 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000021769
AA Change: V429D

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000021769
Gene: ENSMUSG00000021336
AA Change: V429D

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: V429D

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106037
Gene: ENSMUSG00000021336
AA Change: V429D

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: ENSMUST00000110413
SMART Domains Protein: ENSMUSP00000106043
Gene: ENSMUSG00000021335

DomainStartEndE-ValueType
Pfam:MFS_1 24 412 3.1e-48 PFAM
transmembrane domain 430 449 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000225797
Coding Region Coverage
  • 1x: 93.5%
  • 3x: 91.0%
  • 10x: 86.2%
  • 20x: 75.9%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm3 G A 7: 119,384,209 (GRCm39) probably null Het
Adam20 T A 8: 41,247,985 (GRCm39) Y32N probably benign Het
Adm T C 7: 110,227,496 (GRCm39) V4A probably benign Het
Anpep G A 7: 79,489,212 (GRCm39) T320I possibly damaging Het
Atp8b1 T C 18: 64,672,341 (GRCm39) S1008G possibly damaging Het
B9d1 T A 11: 61,396,069 (GRCm39) M12K possibly damaging Het
Cad T C 5: 31,229,438 (GRCm39) L1435P probably damaging Het
Cat T C 2: 103,302,157 (GRCm39) D180G probably damaging Het
Cntln C T 4: 84,892,237 (GRCm39) T374M probably damaging Het
Cyp2a5 G A 7: 26,540,404 (GRCm39) R339Q probably benign Het
Defa22 T C 8: 21,652,352 (GRCm39) L6P probably damaging Het
Dr1 T A 5: 108,417,604 (GRCm39) I50K probably damaging Het
Eln C T 5: 134,766,032 (GRCm39) G57E unknown Het
Fat4 T C 3: 38,943,153 (GRCm39) I682T probably benign Het
Fat4 C A 3: 39,036,506 (GRCm39) A3386E probably damaging Het
Fcgr3 T A 1: 170,885,319 (GRCm39) Y102F probably damaging Het
Gm5930 A T 14: 44,573,993 (GRCm39) L115M probably damaging Het
Herc1 T A 9: 66,386,291 (GRCm39) V3748D probably damaging Het
Ino80d A G 1: 63,125,145 (GRCm39) S106P probably benign Het
Kcns3 C T 12: 11,142,749 (GRCm39) probably benign Het
Kndc1 T A 7: 139,512,830 (GRCm39) L1527Q probably damaging Het
Lepr T G 4: 101,637,180 (GRCm39) S690A probably benign Het
Lrfn5 T C 12: 61,890,343 (GRCm39) F544S probably damaging Het
Mapkap1 C A 2: 34,509,861 (GRCm39) H450Q probably damaging Het
Mdm1 A G 10: 117,994,445 (GRCm39) T485A probably benign Het
Megf10 T C 18: 57,410,760 (GRCm39) C690R probably damaging Het
Myo7a A G 7: 97,712,806 (GRCm39) M1723T probably benign Het
Nrip3 A T 7: 109,364,714 (GRCm39) C137* probably null Het
Or5w22 T A 2: 87,363,124 (GRCm39) I249N probably damaging Het
Pde4a T A 9: 21,122,297 (GRCm39) M731K probably benign Het
Pebp1 A G 5: 117,421,527 (GRCm39) L117P probably damaging Het
Phc2 T C 4: 128,598,995 (GRCm39) Y51H probably damaging Het
Ppp2r5b A G 19: 6,284,713 (GRCm39) F50S probably benign Het
Prpf4b A G 13: 35,083,825 (GRCm39) S865G probably benign Het
Ptpn5 C T 7: 46,738,354 (GRCm39) V243M probably benign Het
Rora T C 9: 69,271,841 (GRCm39) L273P possibly damaging Het
Rtp4 T A 16: 23,432,204 (GRCm39) S245R probably benign Het
Scgb2b20 C T 7: 33,063,985 (GRCm39) G95D probably benign Het
Sec24b A G 3: 129,788,040 (GRCm39) V820A probably benign Het
Sim2 A G 16: 93,895,168 (GRCm39) D62G possibly damaging Het
Sp2 T C 11: 96,852,799 (GRCm39) T42A probably damaging Het
Spata3 G A 1: 85,952,169 (GRCm39) R141Q unknown Het
Sptbn2 A T 19: 4,795,605 (GRCm39) E1658D probably benign Het
Tcaf1 T C 6: 42,655,473 (GRCm39) H501R probably benign Het
Tec G A 5: 72,931,178 (GRCm39) T262M possibly damaging Het
Timm9 A T 12: 71,172,305 (GRCm39) N22K possibly damaging Het
Tln1 C T 4: 43,542,701 (GRCm39) probably null Het
Tmbim4 A G 10: 120,053,529 (GRCm39) I109M probably benign Het
Tmc7 T C 7: 118,163,566 (GRCm39) K110E probably benign Het
Tmem107 C T 11: 68,963,399 (GRCm39) P136L probably benign Het
Ttc21b T C 2: 66,061,563 (GRCm39) probably null Het
Ubd A C 17: 37,506,335 (GRCm39) T74P probably damaging Het
Vps11 A G 9: 44,269,486 (GRCm39) V255A possibly damaging Het
Vsnl1 T C 12: 11,376,448 (GRCm39) T146A probably benign Het
Wdr38 G T 2: 38,889,984 (GRCm39) probably null Het
Yes1 T A 5: 32,841,969 (GRCm39) S498T possibly damaging Het
Zc3h13 G A 14: 75,569,323 (GRCm39) R1390H probably damaging Het
Zscan4b A G 7: 10,635,949 (GRCm39) V126A 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
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
R9628:Slc17a4 UTSW 13 24,089,512 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- TAAGCTGGGAATGCAGGTATATTGG -3'
(R):5'- GTTGACATGTTAGCACAGGC -3'

Sequencing Primer
(F):5'- GGGGTTCCAGACTCATGAGC -3'
(R):5'- TATCCCCTGAAAGGCTGAGC -3'
Posted On 2019-06-07