Incidental Mutation 'IGL01511:Slc34a1'
ID 89253
Institutional Source Australian Phenomics Network (link to record)
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.084) question?
Stock # IGL01511
Quality Score
Status
Chromosome 13
Chromosomal Location 55547435-55562508 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 24003121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097288 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006786] [ENSMUST00000006786] [ENSMUST00000099697] [ENSMUST00000099697]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000006786
SMART Domains Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110

DomainStartEndE-ValueType
Pfam:MFS_1 19 425 3.5e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000006786
SMART Domains Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110

DomainStartEndE-ValueType
Pfam:MFS_1 19 425 3.5e-44 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000099697
SMART Domains Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110

DomainStartEndE-ValueType
Pfam:MFS_1 19 425 2.9e-45 PFAM
transmembrane domain 443 462 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000099697
SMART Domains Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110

DomainStartEndE-ValueType
Pfam:MFS_1 19 425 2.9e-45 PFAM
transmembrane domain 443 462 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141717
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 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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,135,136 (GRCm39) D216E probably benign Het
Abcc4 C A 14: 118,836,753 (GRCm39) L669F probably benign Het
Adam29 C T 8: 56,324,456 (GRCm39) G666D probably damaging Het
Adat2 T G 10: 13,435,982 (GRCm39) M109R probably null Het
Atf3 T A 1: 190,903,693 (GRCm39) T178S probably benign Het
Birc6 T A 17: 74,933,998 (GRCm39) Y2522* probably null Het
Ccr8 G A 9: 119,923,691 (GRCm39) G269R probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Chrna4 C T 2: 180,670,461 (GRCm39) V432I probably benign Het
Commd8 A G 5: 72,322,722 (GRCm39) V65A probably benign Het
Cyp2j13 A G 4: 95,965,552 (GRCm39) F52L possibly damaging Het
Desi1 T A 15: 81,886,789 (GRCm39) K45* probably null Het
Dmbt1 T A 7: 130,718,457 (GRCm39) M1552K possibly damaging Het
Dna2 G A 10: 62,791,093 (GRCm39) M197I possibly damaging Het
Dnah7a A C 1: 53,458,754 (GRCm39) L3795V probably damaging Het
Dnai4 T C 4: 102,905,558 (GRCm39) D741G possibly damaging Het
Fam221b T C 4: 43,660,135 (GRCm39) probably null Het
Fbxw18 A T 9: 109,517,889 (GRCm39) S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 (GRCm39) Y125C unknown Het
Gcsam T C 16: 45,436,315 (GRCm39) Y11H probably damaging Het
Gucy2f G T X: 140,944,730 (GRCm39) D410E probably damaging Het
Hdac3 C T 18: 38,085,648 (GRCm39) A53T probably benign Het
Lamp2 A G X: 37,520,752 (GRCm39) L244P probably damaging Het
Lrrk1 A T 7: 65,915,198 (GRCm39) F1630Y possibly damaging Het
M1ap C A 6: 83,005,393 (GRCm39) D434E probably benign Het
Mcmbp A G 7: 128,308,888 (GRCm39) Y378H probably damaging Het
Mvb12a T A 8: 71,997,946 (GRCm39) V120E probably damaging Het
Nbeal2 A C 9: 110,458,302 (GRCm39) W2063G probably damaging Het
Neto1 A C 18: 86,414,033 (GRCm39) H9P possibly damaging Het
Nmu C T 5: 76,488,668 (GRCm39) V126M probably damaging Het
Odf2 T C 2: 29,804,321 (GRCm39) probably benign Het
Or2y15 A G 11: 49,351,043 (GRCm39) E179G probably damaging Het
Pdzrn3 T C 6: 101,130,217 (GRCm39) H533R possibly damaging Het
Pikfyve G T 1: 65,298,028 (GRCm39) E1586* probably null Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plxna3 A G X: 73,378,914 (GRCm39) E686G probably damaging Het
Polrmt T A 10: 79,575,985 (GRCm39) Y586F probably benign Het
Ppt1 T A 4: 122,748,218 (GRCm39) F225I probably damaging Het
Prcc T G 3: 87,779,548 (GRCm39) D162A probably damaging Het
Ripor1 T C 8: 106,346,562 (GRCm39) probably benign Het
Rnaseh1 A G 12: 28,709,008 (GRCm39) H263R probably damaging Het
Rnf19b T A 4: 128,974,211 (GRCm39) S490R probably damaging Het
Slc15a2 T A 16: 36,605,088 (GRCm39) T23S probably damaging Het
Slc35f4 T C 14: 49,536,334 (GRCm39) M434V probably benign Het
Slc52a3 C T 2: 151,846,564 (GRCm39) T175I probably benign Het
Slc5a2 C T 7: 127,869,794 (GRCm39) T409M probably benign Het
Tbc1d24 A G 17: 24,400,892 (GRCm39) S108P probably benign Het
Thnsl2 T G 6: 71,116,777 (GRCm39) Q125P probably benign Het
Ttc13 T C 8: 125,403,110 (GRCm39) D672G probably damaging Het
Ttn G T 2: 76,584,089 (GRCm39) H14013N possibly damaging Het
Unc5a T C 13: 55,152,629 (GRCm39) F792L probably damaging Het
Vac14 T C 8: 111,439,430 (GRCm39) V669A possibly damaging Het
Vmn1r13 A T 6: 57,187,314 (GRCm39) M158L probably benign Het
Vmn1r220 A T 13: 23,368,384 (GRCm39) V104D probably damaging Het
Zfp738 A T 13: 67,831,520 (GRCm39) probably null Het
Zscan5b A C 7: 6,234,421 (GRCm39) H149P probably benign 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
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
R0362:Slc34a1 UTSW 13 55,550,711 (GRCm39) splice site probably null
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
Posted On 2013-12-03