Incidental Mutation 'IGL02885:Slc34a3'
ID362966
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc34a3
Ensembl Gene ENSMUSG00000006469
Gene Namesolute carrier family 34 (sodium phosphate), member 3
SynonymsNPTIIc, Npt2c
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL02885
Quality Score
Status
Chromosome2
Chromosomal Location25228898-25234364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 25231057 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Arginine at position 340 (C340R)
Ref Sequence ENSEMBL: ENSMUSP00000006638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000091318] [ENSMUST00000205192]
Predicted Effect probably damaging
Transcript: ENSMUST00000006638
AA Change: C340R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469
AA Change: C340R

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 84 231 1.8e-25 PFAM
low complexity region 254 269 N/A INTRINSIC
Pfam:Na_Pi_cotrans 337 538 1.1e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000091318
SMART Domains Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091318
SMART Domains Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124146
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144884
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152997
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155420
Predicted Effect probably benign
Transcript: ENSMUST00000205192
SMART Domains Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953

DomainStartEndE-ValueType
RING 23 69 8.23e-6 SMART
low complexity region 137 148 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypercalciuria, hypercalcemia and increased plasma 1,25(OH)2D3 levels but do not develop hypophosphatemia, renal calcification, rickets, or osteomalacia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 82,063,951 N683S probably benign Het
4930444G20Rik T A 10: 22,067,158 I308F possibly damaging Het
Ahi1 T A 10: 21,055,113 F46I possibly damaging Het
Als2 C T 1: 59,167,491 V1598I probably benign Het
Arid1b A T 17: 5,342,153 D1986V probably damaging Het
Bhlhe41 T A 6: 145,865,263 D2V probably damaging Het
Borcs6 A G 11: 69,060,246 D150G possibly damaging Het
Ccdc88a G T 11: 29,448,050 R261L probably damaging Het
Ccne2 T A 4: 11,198,723 probably benign Het
Cenpk A G 13: 104,249,395 D266G probably damaging Het
Ces2b T C 8: 104,834,931 V219A probably damaging Het
Cpa1 A G 6: 30,645,170 R382G probably damaging Het
Cplx4 G T 18: 65,956,913 T145N probably damaging Het
Cyp19a1 T C 9: 54,171,818 I269V probably benign Het
Dennd3 A G 15: 73,568,696 Y1192C probably benign Het
Dpp6 T C 5: 27,718,473 Y694H probably damaging Het
Eea1 C A 10: 96,041,484 N1353K probably benign Het
Fam111a T A 19: 12,584,124 probably null Het
Fat1 T C 8: 44,989,167 S1169P probably benign Het
Frk G T 10: 34,484,071 A23S probably benign Het
Fyb2 T C 4: 105,003,921 V594A probably damaging Het
Gtpbp3 C A 8: 71,489,420 probably benign Het
Hoxa5 G T 6: 52,202,708 A229D probably damaging Het
Hspb11 G A 4: 107,273,669 C52Y possibly damaging Het
Igf2r A T 17: 12,694,120 F1780L possibly damaging Het
Jade2 A T 11: 51,831,296 D143E probably damaging Het
Kdm1a T C 4: 136,552,535 I719V probably benign Het
Lama1 G A 17: 67,804,536 G2261R probably damaging Het
Lmx1b G T 2: 33,567,204 Q206K probably benign Het
Lrrtm4 G A 6: 80,021,803 G66D probably damaging Het
Myg1 G T 15: 102,332,159 G90C probably damaging Het
Nbea C T 3: 55,631,986 V2785I probably benign Het
Ncr1 C A 7: 4,338,226 P35Q probably damaging Het
Nos1 T A 5: 117,895,790 C326S probably damaging Het
Olfr410 G T 11: 74,334,693 H179Q possibly damaging Het
Olfr527 T C 7: 140,336,159 F99S possibly damaging Het
Olfr569 A T 7: 102,888,036 V39E possibly damaging Het
Pde4d A G 13: 109,948,261 Y520C probably damaging Het
Ppm1d A G 11: 85,326,944 M178V possibly damaging Het
Samd3 G A 10: 26,271,864 R479K probably benign Het
Serpinb6a A G 13: 33,918,799 V226A probably benign Het
Slc26a4 T C 12: 31,525,476 E737G probably benign Het
Spata31d1b C A 13: 59,719,127 probably benign Het
Trappc12 A G 12: 28,747,014 V173A probably benign Het
Vmn2r66 A T 7: 84,995,515 D562E probably benign Het
Zfp395 C T 14: 65,395,895 P451L probably benign Het
Other mutations in Slc34a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02422:Slc34a3 APN 2 25232263 missense probably benign 0.01
IGL03131:Slc34a3 APN 2 25231234 missense probably benign
IGL03166:Slc34a3 APN 2 25232174 missense probably damaging 0.99
IGL03278:Slc34a3 APN 2 25232047 missense probably benign 0.01
PIT4544001:Slc34a3 UTSW 2 25230595 missense probably benign 0.27
R0415:Slc34a3 UTSW 2 25229110 missense probably benign
R0558:Slc34a3 UTSW 2 25233065 unclassified probably benign
R0883:Slc34a3 UTSW 2 25231233 missense probably benign
R2107:Slc34a3 UTSW 2 25230987 missense probably damaging 0.99
R2329:Slc34a3 UTSW 2 25229410 missense possibly damaging 0.95
R3108:Slc34a3 UTSW 2 25229245 missense probably benign
R4637:Slc34a3 UTSW 2 25229461 missense possibly damaging 0.92
R5008:Slc34a3 UTSW 2 25230842 missense possibly damaging 0.62
R5341:Slc34a3 UTSW 2 25230659 missense probably benign 0.00
R5623:Slc34a3 UTSW 2 25233300 splice site probably null
R6602:Slc34a3 UTSW 2 25229209 missense probably damaging 0.99
R7512:Slc34a3 UTSW 2 25232241 synonymous probably null
R7784:Slc34a3 UTSW 2 25232225 missense probably damaging 1.00
R8072:Slc34a3 UTSW 2 25229277 missense probably benign 0.01
Z1176:Slc34a3 UTSW 2 25229398 missense probably damaging 1.00
Posted On2015-12-18