Incidental Mutation 'IGL03131:Slc34a3'
ID 410327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc34a3
Ensembl Gene ENSMUSG00000006469
Gene Name solute carrier family 34 (sodium phosphate), member 3
Synonyms Npt2c, NPTIIc
Accession Numbers
Essential gene? Probably non essential (E-score: 0.221) question?
Stock # IGL03131
Quality Score
Status
Chromosome 2
Chromosomal Location 25118909-25124282 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 25121246 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q80SU6
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 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155420
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: 121,473,251 (GRCm39) R135S unknown Het
A1bg T C 15: 60,791,605 (GRCm39) Y277C probably damaging Het
Abca12 A T 1: 71,385,861 (GRCm39) F252L probably benign Het
Abcd3 A T 3: 121,575,640 (GRCm39) probably benign Het
Acvr2b C A 9: 119,260,350 (GRCm39) F364L possibly damaging Het
Adamts12 T C 15: 11,345,650 (GRCm39) C1564R probably damaging Het
Agap3 A G 5: 24,682,130 (GRCm39) T392A probably benign Het
Ano1 A G 7: 144,157,322 (GRCm39) F767L possibly damaging Het
Atg10 C A 13: 91,085,412 (GRCm39) R179I probably null Het
Bsph1 A T 7: 13,207,012 (GRCm39) K129N probably damaging Het
Calml4 A G 9: 62,782,765 (GRCm39) D77G probably benign Het
Cc2d1a T A 8: 84,870,056 (GRCm39) K153M probably damaging Het
Col4a2 G A 8: 11,475,979 (GRCm39) V672I probably benign Het
Crnkl1 T C 2: 145,774,178 (GRCm39) K95R probably benign Het
Crtap T C 9: 114,209,072 (GRCm39) D324G possibly damaging Het
Csmd1 C T 8: 16,138,231 (GRCm39) G1607E probably damaging Het
Dcbld2 T G 16: 58,272,051 (GRCm39) I369R probably benign Het
Dmc1 T A 15: 79,452,892 (GRCm39) I246L probably benign Het
Dock1 G T 7: 134,475,912 (GRCm39) V896L possibly damaging Het
Eftud2 G A 11: 102,761,009 (GRCm39) T112M probably damaging Het
F5 A T 1: 163,989,388 (GRCm39) I97F possibly damaging Het
Fasn C T 11: 120,701,550 (GRCm39) V1939M possibly damaging Het
Gpatch2l T C 12: 86,328,285 (GRCm39) V414A probably benign Het
Gpd2 T C 2: 57,228,855 (GRCm39) probably benign Het
Gria4 T G 9: 4,432,876 (GRCm39) N769T probably damaging Het
Gtf3c2 A T 5: 31,314,964 (GRCm39) F885I probably damaging Het
Ifi209 C T 1: 173,468,800 (GRCm39) T210I possibly damaging Het
Kmt2c A G 5: 25,520,359 (GRCm39) V1917A probably benign Het
Mad1l1 G A 5: 140,293,458 (GRCm39) A120V probably benign Het
Mef2c T C 13: 83,810,494 (GRCm39) I382T probably damaging Het
Ms4a14 A T 19: 11,285,056 (GRCm39) L171I probably benign Het
Myf6 T A 10: 107,330,132 (GRCm39) Q145L probably damaging Het
Myh3 G A 11: 66,981,935 (GRCm39) probably benign Het
Nbas A G 12: 13,329,417 (GRCm39) I121V probably benign Het
Ncoa2 A T 1: 13,247,398 (GRCm39) S342T probably damaging Het
Nlrp1b C T 11: 71,052,741 (GRCm39) D896N possibly damaging Het
Prss41 A G 17: 24,061,498 (GRCm39) Y98H probably benign Het
Ptpn13 A T 5: 103,665,425 (GRCm39) T450S probably benign Het
Rab39 G A 9: 53,597,861 (GRCm39) R135C probably damaging Het
Radil A G 5: 142,481,097 (GRCm39) V570A probably damaging Het
Sbno1 C T 5: 124,526,668 (GRCm39) R949Q probably damaging Het
Sec61a2 T A 2: 5,887,689 (GRCm39) K98* probably null Het
Serbp1 T A 6: 67,258,807 (GRCm39) probably null Het
Serpinb3c G T 1: 107,199,457 (GRCm39) Q355K probably benign Het
Smarcad1 T A 6: 65,051,937 (GRCm39) S357T probably damaging Het
Spag17 G A 3: 99,918,075 (GRCm39) D353N possibly damaging Het
Spdl1 T A 11: 34,721,592 (GRCm39) Q39L possibly damaging Het
Syne2 A C 12: 76,104,264 (GRCm39) Q5485P probably damaging Het
Synj1 C A 16: 90,785,056 (GRCm39) V227F probably damaging Het
Syt12 T C 19: 4,506,882 (GRCm39) T88A probably benign Het
Tasor C T 14: 27,183,136 (GRCm39) Q532* probably null Het
Tlr12 A G 4: 128,509,670 (GRCm39) F860S probably damaging Het
Trdn C A 10: 33,274,410 (GRCm39) S461* probably null Het
Trip4 G A 9: 65,764,727 (GRCm39) P413S probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) probably null Het
Wnt9a T C 11: 59,221,855 (GRCm39) L251P probably damaging Het
Xrcc1 A T 7: 24,272,719 (GRCm39) K618* probably null Het
Zfp759 T C 13: 67,286,728 (GRCm39) L93P probably damaging Het
Other mutations in Slc34a3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02422:Slc34a3 APN 2 25,122,275 (GRCm39) missense probably benign 0.01
IGL02885:Slc34a3 APN 2 25,121,069 (GRCm39) missense probably damaging 1.00
IGL03166:Slc34a3 APN 2 25,122,186 (GRCm39) missense probably damaging 0.99
IGL03278:Slc34a3 APN 2 25,122,059 (GRCm39) missense probably benign 0.01
PIT4544001:Slc34a3 UTSW 2 25,120,607 (GRCm39) missense probably benign 0.27
R0415:Slc34a3 UTSW 2 25,119,122 (GRCm39) missense probably benign
R0558:Slc34a3 UTSW 2 25,123,077 (GRCm39) unclassified probably benign
R0883:Slc34a3 UTSW 2 25,121,245 (GRCm39) missense probably benign
R2107:Slc34a3 UTSW 2 25,120,999 (GRCm39) missense probably damaging 0.99
R2329:Slc34a3 UTSW 2 25,119,422 (GRCm39) missense possibly damaging 0.95
R3108:Slc34a3 UTSW 2 25,119,257 (GRCm39) missense probably benign
R4637:Slc34a3 UTSW 2 25,119,473 (GRCm39) missense possibly damaging 0.92
R5008:Slc34a3 UTSW 2 25,120,854 (GRCm39) missense possibly damaging 0.62
R5341:Slc34a3 UTSW 2 25,120,671 (GRCm39) missense probably benign 0.00
R5623:Slc34a3 UTSW 2 25,123,312 (GRCm39) splice site probably null
R6602:Slc34a3 UTSW 2 25,119,221 (GRCm39) missense probably damaging 0.99
R7512:Slc34a3 UTSW 2 25,122,253 (GRCm39) splice site probably null
R7784:Slc34a3 UTSW 2 25,122,237 (GRCm39) missense probably damaging 1.00
R8072:Slc34a3 UTSW 2 25,119,289 (GRCm39) missense probably benign 0.01
R8730:Slc34a3 UTSW 2 25,122,057 (GRCm39) missense possibly damaging 0.80
R8762:Slc34a3 UTSW 2 25,121,003 (GRCm39) missense probably benign 0.03
R8880:Slc34a3 UTSW 2 25,119,267 (GRCm39) missense probably benign 0.03
Z1176:Slc34a3 UTSW 2 25,119,410 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02