Incidental Mutation 'IGL01724:Slc17a4'
ID105223
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc17a4
Ensembl Gene ENSMUSG00000021336
Gene Namesolute carrier family 17 (sodium phosphate), member 4
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.065) question?
Stock #IGL01724
Quality Score
Status
Chromosome13
Chromosomal Location23895890-23915009 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 23905533 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 134 (Y134H)
Ref Sequence ENSEMBL: ENSMUSP00000153087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021769] [ENSMUST00000110407] [ENSMUST00000225797]
Predicted Effect probably benign
Transcript: ENSMUST00000021769
AA Change: Y134H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000021769
Gene: ENSMUSG00000021336
AA Change: Y134H

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: Y134H

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106037
Gene: ENSMUSG00000021336
AA Change: Y134H

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
AA Change: Y134H

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik C T 7: 29,247,896 probably null Het
Abcc9 A G 6: 142,664,533 V635A probably benign Het
Adgre1 T A 17: 57,444,064 Y579* probably null Het
Adgrg3 T C 8: 95,039,425 F295L probably benign Het
Arhgap42 A T 9: 8,998,253 probably benign Het
Brd2 T A 17: 34,117,002 Q79L probably damaging Het
Brd2 C A 17: 34,117,001 Q79H probably damaging Het
Capn15 A G 17: 25,962,063 S705P probably damaging Het
Cebpz T A 17: 78,935,913 D104V probably benign Het
Chl1 T C 6: 103,649,573 I94T probably damaging Het
Csf2rb C T 15: 78,336,414 A52V probably damaging Het
Ddx27 T C 2: 167,028,389 L459P probably damaging Het
Dhtkd1 T C 2: 5,914,840 T577A probably benign Het
Dync2h1 G A 9: 7,081,077 T2873I probably benign Het
Emg1 A G 6: 124,712,021 F8S possibly damaging Het
Fam46a A G 9: 85,325,050 C232R probably damaging Het
Fermt3 A G 19: 7,001,775 I553T probably damaging Het
Gaa A G 11: 119,275,121 D419G possibly damaging Het
Hdac10 T C 15: 89,124,709 probably benign Het
Hsf1 T A 15: 76,496,837 V122E possibly damaging Het
Lig3 C A 11: 82,790,622 T480K possibly damaging Het
Magi1 T C 6: 93,792,400 probably null Het
Mcm2 G T 6: 88,886,062 H683N probably damaging Het
Ncapg2 G T 12: 116,426,711 A427S probably damaging Het
Nkd1 T C 8: 88,522,295 F23L probably damaging Het
Olfr1501 G A 19: 13,838,861 T104M probably damaging Het
Pcdhb5 T G 18: 37,321,022 S152A probably benign Het
Pdx1 A T 5: 147,274,407 E146V probably damaging Het
Qrsl1 T C 10: 43,874,608 T485A probably benign Het
Slc24a4 A T 12: 102,218,960 M110L possibly damaging Het
Tnni3k T A 3: 154,939,626 I541F possibly damaging Het
Uhrf2 T C 19: 30,075,252 V382A probably benign Het
Vac14 T A 8: 110,618,891 M1K probably null Het
Virma A G 4: 11,528,672 E1303G probably damaging Het
Xirp2 T C 2: 67,526,067 V3724A probably benign Het
Other mutations in Slc17a4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02976:Slc17a4 APN 13 23905424 missense probably damaging 0.99
R1490:Slc17a4 UTSW 13 23904753 missense probably benign 0.29
R1726:Slc17a4 UTSW 13 23905591 nonsense probably null
R1866:Slc17a4 UTSW 13 23900545 missense possibly damaging 0.67
R3820:Slc17a4 UTSW 13 23901769 missense probably benign
R3821:Slc17a4 UTSW 13 23901769 missense probably benign
R3837:Slc17a4 UTSW 13 23901769 missense probably benign
R3838:Slc17a4 UTSW 13 23901769 missense probably benign
R3839:Slc17a4 UTSW 13 23901769 missense probably benign
R5347:Slc17a4 UTSW 13 23908817 missense possibly damaging 0.63
R5489:Slc17a4 UTSW 13 23898842 unclassified probably null
R6607:Slc17a4 UTSW 13 23905414 splice site probably null
Posted On2014-01-21