Incidental Mutation 'R0362:Slc34a1'
ID 36283
Institutional Source Beutler Lab
Gene Symbol Slc34a1
Ensembl Gene ENSMUSG00000021490
Gene Name solute carrier family 34 (sodium phosphate), member 1
Synonyms Slc17a2, Npt2, Na/Pi cotransporter, renal Na+/Pi transporter, NaPi-IIa
MMRRC Submission 038568-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R0362 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55547435-55562508 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 55550711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153038 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057167] [ENSMUST00000224925] [ENSMUST00000225259]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000057167
SMART Domains Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490

DomainStartEndE-ValueType
Pfam:Na_Pi_cotrans 113 256 7.4e-28 PFAM
Pfam:Na_Pi_cotrans 359 549 2.3e-17 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224043
Predicted Effect probably null
Transcript: ENSMUST00000224925
Predicted Effect probably null
Transcript: ENSMUST00000225259
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (104/105)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II sodium-phosphate cotransporter family. Mutations in this gene are associated with hypophosphatemia nephrolithiasis/osteoporosis 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous null mice exhibit renal phosphate wasting, hyerpcalciuria, and skeletal abnormalities. Postnatal viability is reduced, putatively due to poor nutritional status. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,563,261 (GRCm39) Q401R probably benign Het
Acp3 A G 9: 104,191,626 (GRCm39) F220S probably damaging Het
Adam7 A G 14: 68,747,105 (GRCm39) probably benign Het
Adamts6 A G 13: 104,526,584 (GRCm39) probably null Het
Ascc3 T C 10: 50,625,051 (GRCm39) probably benign Het
Atg10 T C 13: 91,189,109 (GRCm39) probably null Het
Atm T C 9: 53,370,138 (GRCm39) I2325V possibly damaging Het
Btnl9 C T 11: 49,060,443 (GRCm39) R435H possibly damaging Het
Ccdc180 A G 4: 45,923,551 (GRCm39) K1111E probably damaging Het
Ciao2b T C 8: 105,368,222 (GRCm39) D34G probably null Het
Col11a2 T A 17: 34,281,420 (GRCm39) probably null Het
Ctcfl A G 2: 172,960,236 (GRCm39) W116R probably damaging Het
Ctsk A T 3: 95,408,255 (GRCm39) Y37F probably damaging Het
Daam2 G C 17: 49,787,813 (GRCm39) probably null Het
Dcdc2b T C 4: 129,504,031 (GRCm39) probably null Het
Ddx28 C T 8: 106,737,926 (GRCm39) R44Q probably damaging Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Dnah17 A T 11: 117,989,365 (GRCm39) M1281K probably benign Het
Dnah6 T C 6: 73,185,592 (GRCm39) S110G probably benign Het
Drc7 T C 8: 95,799,483 (GRCm39) Y553H probably benign Het
Dync2h1 T C 9: 7,005,487 (GRCm39) probably null Het
Ecm1 A G 3: 95,644,369 (GRCm39) I152T possibly damaging Het
Edc4 C G 8: 106,613,407 (GRCm39) P307R probably damaging Het
Eeig2 C T 3: 108,887,497 (GRCm39) E256K probably benign Het
Egr1 A G 18: 34,996,366 (GRCm39) T383A possibly damaging Het
Eml2 A G 7: 18,924,731 (GRCm39) probably null Het
Eno4 A G 19: 58,932,056 (GRCm39) probably benign Het
Erbb4 A T 1: 68,369,429 (GRCm39) I404K probably damaging Het
Exoc7 G T 11: 116,186,488 (GRCm39) T310K probably benign Het
Fam83e G T 7: 45,376,393 (GRCm39) V369L probably benign Het
Fancc A T 13: 63,545,970 (GRCm39) I91K possibly damaging Het
Fbn1 T C 2: 125,151,697 (GRCm39) Q2519R probably damaging Het
Fhod3 T A 18: 25,223,133 (GRCm39) C826* probably null Het
Foxi3 A G 6: 70,933,612 (GRCm39) D33G probably benign Het
Gcn1 T C 5: 115,714,167 (GRCm39) probably benign Het
Gm14221 T C 2: 160,410,310 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,384,853 (GRCm39) H630Q probably benign Het
Gpat4 T C 8: 23,670,949 (GRCm39) S88G probably benign Het
Gucy2d A T 7: 98,092,892 (GRCm39) S90C probably damaging Het
Has2 A C 15: 56,545,057 (GRCm39) C182G probably damaging Het
Heatr5a A T 12: 51,935,644 (GRCm39) S1647R probably damaging Het
Ifi35 T C 11: 101,348,038 (GRCm39) V48A probably benign Het
Lig1 T A 7: 13,030,730 (GRCm39) probably benign Het
Magi2 A G 5: 19,432,573 (GRCm39) K96R probably damaging Het
Map7d1 G T 4: 126,128,787 (GRCm39) P462Q probably damaging Het
Mdn1 A T 4: 32,746,439 (GRCm39) probably null Het
Mfsd4a A T 1: 131,987,013 (GRCm39) V105E probably damaging Het
Mrpl53 C T 6: 83,086,526 (GRCm39) R77C probably damaging Het
Mtnr1b C T 9: 15,785,600 (GRCm39) V53M probably damaging Het
Myo9b T C 8: 71,800,414 (GRCm39) W990R probably damaging Het
Myt1 A T 2: 181,405,186 (GRCm39) probably benign Het
Nf1 C T 11: 79,427,704 (GRCm39) A1766V probably damaging Het
Nlrp3 T C 11: 59,439,623 (GRCm39) V400A possibly damaging Het
Nup205 T A 6: 35,173,649 (GRCm39) probably null Het
Nxf1 T C 19: 8,741,515 (GRCm39) probably null Het
Or7a36 A T 10: 78,820,220 (GRCm39) M199L probably benign Het
P4hb T C 11: 120,454,162 (GRCm39) K311E probably benign Het
Pafah1b1 T C 11: 74,574,457 (GRCm39) N243S probably benign Het
Parp8 G A 13: 117,061,504 (GRCm39) Q141* probably null Het
Pkd2l2 A C 18: 34,568,380 (GRCm39) D543A probably benign Het
Pld5 A T 1: 175,803,146 (GRCm39) L311* probably null Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plpp5 A T 8: 26,214,219 (GRCm39) T144S probably benign Het
Ppp6r3 A G 19: 3,528,285 (GRCm39) L542S probably damaging Het
Prkar2b A T 12: 32,037,973 (GRCm39) probably null Het
Psmg1 A T 16: 95,789,171 (GRCm39) S129T possibly damaging Het
Radil T C 5: 142,529,582 (GRCm39) D38G probably benign Het
Ric1 T C 19: 29,578,411 (GRCm39) probably null Het
Rp1l1 T A 14: 64,268,515 (GRCm39) L1367* probably null Het
Rxfp1 A T 3: 79,645,100 (GRCm39) M1K probably null Het
Serpina6 G T 12: 103,618,208 (GRCm39) L202I probably damaging Het
Simc1 T C 13: 54,676,280 (GRCm39) I98T probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Slc26a11 T A 11: 119,270,767 (GRCm39) probably benign Het
Slfn10-ps T A 11: 82,926,600 (GRCm39) noncoding transcript Het
Sohlh2 A G 3: 55,115,163 (GRCm39) N383D probably damaging Het
Spag6 T A 2: 18,715,302 (GRCm39) L27H probably damaging Het
Sptlc3 A G 2: 139,388,475 (GRCm39) probably benign Het
St3gal4 T A 9: 34,964,469 (GRCm39) K199* probably null Het
Stat5a T A 11: 100,772,909 (GRCm39) D712E probably benign Het
Stmn2 A T 3: 8,610,750 (GRCm39) D78V probably damaging Het
Stpg1 C T 4: 135,233,777 (GRCm39) P20S possibly damaging Het
Taf2 A T 15: 54,909,325 (GRCm39) V640E probably damaging Het
Tbce T C 13: 14,172,747 (GRCm39) E501G probably benign Het
Tecpr2 A G 12: 110,935,374 (GRCm39) S1398G probably damaging Het
Tenm4 T A 7: 96,421,242 (GRCm39) Y598* probably null Het
Ticrr A G 7: 79,327,088 (GRCm39) S599G probably damaging Het
Tnc A C 4: 63,935,679 (GRCm39) V419G probably damaging Het
Trappc1 C A 11: 69,216,402 (GRCm39) P110T probably benign Het
Trbv12-2 C T 6: 41,095,993 (GRCm39) probably benign Het
Ttbk2 A T 2: 120,576,264 (GRCm39) N835K possibly damaging Het
Tubgcp5 A G 7: 55,450,432 (GRCm39) D181G probably damaging Het
Tut1 T C 19: 8,932,891 (GRCm39) Y75H possibly damaging Het
Ulk2 C A 11: 61,678,412 (GRCm39) C769F probably benign Het
Vdac1 T C 11: 52,265,800 (GRCm39) probably benign Het
Vmn2r124 T C 17: 18,284,486 (GRCm39) probably null Het
Vps8 T C 16: 21,426,977 (GRCm39) probably benign Het
Wdr35 T C 12: 9,045,625 (GRCm39) probably benign Het
Zdhhc7 T A 8: 120,813,386 (GRCm39) E141V probably null Het
Zfp12 C A 5: 143,230,978 (GRCm39) S435Y probably damaging Het
Zfp974 A T 7: 27,626,819 (GRCm39) probably benign Het
Zfyve9 T A 4: 108,538,166 (GRCm39) K1033N probably damaging Het
Zswim8 T A 14: 20,772,013 (GRCm39) S1572T possibly damaging Het
Other mutations in Slc34a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Slc34a1 APN 13 24,003,317 (GRCm39) missense probably benign 0.13
IGL01120:Slc34a1 APN 13 55,556,884 (GRCm39) missense probably damaging 1.00
IGL01396:Slc34a1 APN 13 55,550,546 (GRCm39) missense probably damaging 1.00
IGL01405:Slc34a1 APN 13 55,559,941 (GRCm39) missense probably damaging 1.00
IGL01511:Slc34a1 APN 13 24,003,121 (GRCm39) critical splice donor site probably null
IGL01624:Slc34a1 APN 13 23,998,969 (GRCm39) missense probably benign 0.00
IGL01839:Slc34a1 APN 13 23,996,668 (GRCm39) missense possibly damaging 0.91
IGL02010:Slc34a1 APN 13 24,003,025 (GRCm39) missense probably benign 0.00
IGL02525:Slc34a1 APN 13 55,551,051 (GRCm39) splice site probably benign
IGL02555:Slc34a1 APN 13 55,548,981 (GRCm39) missense possibly damaging 0.77
IGL02692:Slc34a1 APN 13 55,551,049 (GRCm39) splice site probably benign
IGL03173:Slc34a1 APN 13 55,561,089 (GRCm39) missense probably damaging 0.99
IGL03221:Slc34a1 APN 13 55,548,591 (GRCm39) missense probably benign 0.00
IGL03299:Slc34a1 APN 13 24,005,094 (GRCm39) critical splice donor site probably null
Rockies UTSW 13 24,003,317 (GRCm39) missense probably damaging 0.99
R0190:Slc34a1 UTSW 13 55,556,914 (GRCm39) missense probably benign 0.00
R0196:Slc34a1 UTSW 13 55,560,078 (GRCm39) missense probably damaging 0.99
R0622:Slc34a1 UTSW 13 23,996,594 (GRCm39) missense probably damaging 1.00
R1055:Slc34a1 UTSW 13 55,550,846 (GRCm39) missense probably benign 0.26
R1104:Slc34a1 UTSW 13 24,003,920 (GRCm39) missense probably damaging 0.99
R1243:Slc34a1 UTSW 13 55,559,944 (GRCm39) missense possibly damaging 0.85
R1414:Slc34a1 UTSW 13 55,548,524 (GRCm39) missense probably benign
R1530:Slc34a1 UTSW 13 24,003,052 (GRCm39) missense probably damaging 1.00
R1566:Slc34a1 UTSW 13 55,559,844 (GRCm39) critical splice acceptor site probably null
R1682:Slc34a1 UTSW 13 23,996,623 (GRCm39) missense probably damaging 0.96
R1732:Slc34a1 UTSW 13 55,561,233 (GRCm39) missense probably benign
R1901:Slc34a1 UTSW 13 55,548,963 (GRCm39) nonsense probably null
R2255:Slc34a1 UTSW 13 24,004,991 (GRCm39) missense probably benign 0.09
R2423:Slc34a1 UTSW 13 55,556,865 (GRCm39) missense possibly damaging 0.63
R2986:Slc34a1 UTSW 13 55,551,142 (GRCm39) missense probably benign 0.00
R3940:Slc34a1 UTSW 13 55,560,983 (GRCm39) missense probably damaging 1.00
R4003:Slc34a1 UTSW 13 55,550,474 (GRCm39) splice site probably benign
R4553:Slc34a1 UTSW 13 55,559,874 (GRCm39) splice site probably null
R4735:Slc34a1 UTSW 13 55,561,397 (GRCm39) missense probably benign 0.13
R4923:Slc34a1 UTSW 13 24,003,078 (GRCm39) missense probably benign 0.20
R5177:Slc34a1 UTSW 13 55,548,975 (GRCm39) missense probably damaging 0.99
R5193:Slc34a1 UTSW 13 24,003,845 (GRCm39) critical splice acceptor site probably null
R5321:Slc34a1 UTSW 13 23,996,614 (GRCm39) missense possibly damaging 0.95
R5334:Slc34a1 UTSW 13 24,003,034 (GRCm39) missense probably damaging 0.97
R5345:Slc34a1 UTSW 13 55,548,331 (GRCm39) missense probably benign
R5363:Slc34a1 UTSW 13 55,560,103 (GRCm39) missense probably damaging 1.00
R5363:Slc34a1 UTSW 13 55,551,081 (GRCm39) missense probably benign 0.16
R5377:Slc34a1 UTSW 13 23,996,575 (GRCm39) missense probably damaging 1.00
R5668:Slc34a1 UTSW 13 55,556,898 (GRCm39) missense possibly damaging 0.94
R5685:Slc34a1 UTSW 13 55,549,085 (GRCm39) critical splice donor site probably null
R5782:Slc34a1 UTSW 13 55,550,501 (GRCm39) missense possibly damaging 0.92
R5836:Slc34a1 UTSW 13 55,561,278 (GRCm39) missense probably benign 0.05
R6047:Slc34a1 UTSW 13 55,559,884 (GRCm39) missense probably damaging 1.00
R6165:Slc34a1 UTSW 13 23,999,053 (GRCm39) missense probably benign 0.00
R6280:Slc34a1 UTSW 13 24,006,377 (GRCm39) missense probably benign
R6311:Slc34a1 UTSW 13 23,999,005 (GRCm39) missense probably benign 0.40
R6323:Slc34a1 UTSW 13 23,998,969 (GRCm39) missense probably benign 0.00
R6476:Slc34a1 UTSW 13 23,996,569 (GRCm39) missense probably damaging 1.00
R6496:Slc34a1 UTSW 13 55,550,495 (GRCm39) missense probably benign 0.15
R6814:Slc34a1 UTSW 13 24,006,372 (GRCm39) missense possibly damaging 0.55
R7155:Slc34a1 UTSW 13 24,006,390 (GRCm39) missense probably benign 0.21
R7158:Slc34a1 UTSW 13 55,549,044 (GRCm39) missense probably damaging 0.99
R7188:Slc34a1 UTSW 13 24,006,348 (GRCm39) missense probably damaging 1.00
R7288:Slc34a1 UTSW 13 24,003,095 (GRCm39) missense probably benign 0.09
R7384:Slc34a1 UTSW 13 55,550,747 (GRCm39) missense probably benign 0.00
R7462:Slc34a1 UTSW 13 24,006,401 (GRCm39) missense probably damaging 1.00
R7694:Slc34a1 UTSW 13 55,561,221 (GRCm39) missense probably benign 0.22
R7808:Slc34a1 UTSW 13 24,003,317 (GRCm39) missense probably damaging 0.99
R7937:Slc34a1 UTSW 13 23,996,648 (GRCm39) missense probably benign
R8444:Slc34a1 UTSW 13 24,003,061 (GRCm39) missense probably benign 0.00
R8447:Slc34a1 UTSW 13 24,006,309 (GRCm39) missense possibly damaging 0.50
R8932:Slc34a1 UTSW 13 24,004,184 (GRCm39) missense probably benign 0.00
R8977:Slc34a1 UTSW 13 55,556,815 (GRCm39) missense probably benign 0.01
R9635:Slc34a1 UTSW 13 55,556,940 (GRCm39) missense probably damaging 1.00
X0022:Slc34a1 UTSW 13 55,550,828 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATCATGGGCTCCAACATCGGAAC -3'
(R):5'- CACATCTGTCCATCCTGTGGCAAG -3'

Sequencing Primer
(F):5'- TCCAACATCGGAACCTCTGTC -3'
(R):5'- CCTCACCTGGATGATGAGTC -3'
Posted On 2013-05-09