Incidental Mutation 'IGL03131:Slc34a3'
ID410327
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: 0.131) question?
Stock #IGL03131
Quality Score
Status
Chromosome2
Chromosomal Location25228898-25234364 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 25231234 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Alanine at position 307 (D307A)
Ref Sequence ENSEMBL: ENSMUSP00000006638 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000091318] [ENSMUST00000205192]
Predicted Effect probably benign
Transcript: ENSMUST00000006638
AA Change: D307A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469
AA Change: D307A

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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A C 3: 121,679,602 R135S unknown Het
A1bg T C 15: 60,919,756 Y277C probably damaging Het
Abca12 A T 1: 71,346,702 F252L probably benign Het
Abcd3 A T 3: 121,781,991 probably benign Het
Acvr2b C A 9: 119,431,284 F364L possibly damaging Het
Adamts12 T C 15: 11,345,564 C1564R probably damaging Het
Agap3 A G 5: 24,477,132 T392A probably benign Het
Ano1 A G 7: 144,603,585 F767L possibly damaging Het
Atg10 C A 13: 90,937,293 R179I probably null Het
Bsph1 A T 7: 13,473,087 K129N probably damaging Het
Calml4 A G 9: 62,875,483 D77G probably benign Het
Cc2d1a T A 8: 84,143,427 K153M probably damaging Het
Col4a2 G A 8: 11,425,979 V672I probably benign Het
Crnkl1 T C 2: 145,932,258 K95R probably benign Het
Crtap T C 9: 114,380,004 D324G possibly damaging Het
Csmd1 C T 8: 16,088,217 G1607E probably damaging Het
Dcbld2 T G 16: 58,451,688 I369R probably benign Het
Dmc1 T A 15: 79,568,691 I246L probably benign Het
Dock1 G T 7: 134,874,183 V896L possibly damaging Het
Eftud2 G A 11: 102,870,183 T112M probably damaging Het
F5 A T 1: 164,161,819 I97F possibly damaging Het
Fam208a C T 14: 27,461,179 Q532* probably null Het
Fasn C T 11: 120,810,724 V1939M possibly damaging Het
Gpatch2l T C 12: 86,281,511 V414A probably benign Het
Gpd2 T C 2: 57,338,843 probably benign Het
Gria4 T G 9: 4,432,876 N769T probably damaging Het
Gtf3c2 A T 5: 31,157,620 F885I probably damaging Het
Ifi209 C T 1: 173,641,234 T210I possibly damaging Het
Kmt2c A G 5: 25,315,361 V1917A probably benign Het
Mad1l1 G A 5: 140,307,703 A120V probably benign Het
Mef2c T C 13: 83,662,375 I382T probably damaging Het
Ms4a14 A T 19: 11,307,692 L171I probably benign Het
Myf6 T A 10: 107,494,271 Q145L probably damaging Het
Myh3 G A 11: 67,091,109 probably benign Het
Nbas A G 12: 13,279,416 I121V probably benign Het
Ncoa2 A T 1: 13,177,174 S342T probably damaging Het
Nlrp1b C T 11: 71,161,915 D896N possibly damaging Het
Prss41 A G 17: 23,842,524 Y98H probably benign Het
Ptpn13 A T 5: 103,517,559 T450S probably benign Het
Rab39 G A 9: 53,686,561 R135C probably damaging Het
Radil A G 5: 142,495,342 V570A probably damaging Het
Sbno1 C T 5: 124,388,605 R949Q probably damaging Het
Sec61a2 T A 2: 5,882,878 K98* probably null Het
Serbp1 T A 6: 67,281,823 probably null Het
Serpinb3c G T 1: 107,271,727 Q355K probably benign Het
Smarcad1 T A 6: 65,074,953 S357T probably damaging Het
Spag17 G A 3: 100,010,759 D353N possibly damaging Het
Spdl1 T A 11: 34,830,765 Q39L possibly damaging Het
Syne2 A C 12: 76,057,490 Q5485P probably damaging Het
Synj1 C A 16: 90,988,168 V227F probably damaging Het
Syt12 T C 19: 4,456,854 T88A probably benign Het
Tlr12 A G 4: 128,615,877 F860S probably damaging Het
Trdn C A 10: 33,398,414 S461* probably null Het
Trip4 G A 9: 65,857,445 P413S probably benign Het
Wdr17 A G 8: 54,696,267 probably null Het
Wnt9a T C 11: 59,331,029 L251P probably damaging Het
Xrcc1 A T 7: 24,573,294 K618* probably null Het
Zfp759 T C 13: 67,138,664 L93P probably damaging Het
Other mutations in Slc34a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02422:Slc34a3 APN 2 25232263 missense probably benign 0.01
IGL02885:Slc34a3 APN 2 25231057 missense probably damaging 1.00
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
Posted On2016-08-02