Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02692:Slc34a1'

303809

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: 0.074) question?

Stock #

IGL02692

Quality Score

Status

Chromosome

Chromosomal Location

55547435-55562508 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 55551049 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 benign
Transcript: ENSMUST00000057167

SMART Domains

Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000224925

Predicted Effect

probably benign
Transcript: ENSMUST00000225259

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	C	10: 100,439,410 (GRCm39)	S72R	probably benign	Het
4930544G11Rik	T	C	6: 65,929,792 (GRCm39)	V9A	probably damaging	Het
Actl11	A	G	9: 107,806,507 (GRCm39)	N277D	probably benign	Het
Adam2	T	A	14: 66,311,536 (GRCm39)	I57F	probably damaging	Het
Adgrf1	T	C	17: 43,614,669 (GRCm39)	F251S	probably damaging	Het
Anapc15-ps	T	C	10: 95,509,089 (GRCm39)	I64V	probably benign	Het
Anapc4	T	C	5: 53,021,871 (GRCm39)	V651A	probably damaging	Het
Atl2	T	C	17: 80,172,482 (GRCm39)	N163D	probably benign	Het
B4galnt3	G	A	6: 120,187,272 (GRCm39)	R708C	probably damaging	Het
Capza2	C	T	6: 17,654,115 (GRCm39)	Q56*	probably null	Het
Cspg4	T	A	9: 56,794,738 (GRCm39)	H824Q	probably benign	Het
Dock7	G	A	4: 98,875,623 (GRCm39)	P1106S	probably damaging	Het
Fat4	A	G	3: 39,005,235 (GRCm39)	Y1878C	probably damaging	Het
Grk2	A	T	19: 4,340,716 (GRCm39)		probably benign	Het
Lmbrd2	G	A	15: 9,149,155 (GRCm39)	V13I	possibly damaging	Het
Loxhd1	G	T	18: 77,444,609 (GRCm39)	C336F	probably damaging	Het
Morc1	T	A	16: 48,330,596 (GRCm39)	F355L	probably null	Het
Mov10	C	A	3: 104,708,119 (GRCm39)	E503*	probably null	Het
Nt5dc3	T	A	10: 86,640,642 (GRCm39)		probably null	Het
Or2w3b	A	G	11: 58,623,343 (GRCm39)	V216A	probably benign	Het
Phf20	T	A	2: 156,140,498 (GRCm39)	M724K	probably damaging	Het
Pla2g2e	G	T	4: 138,609,870 (GRCm39)		probably benign	Het
Polq	T	A	16: 36,880,989 (GRCm39)	V772E	probably damaging	Het
Rhoh	A	G	5: 66,050,143 (GRCm39)	R138G	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Septin7	A	G	9: 25,207,786 (GRCm39)		probably benign	Het
Serpina9	A	C	12: 103,974,665 (GRCm39)	F163V	probably damaging	Het
Slc2a13	A	T	15: 91,205,861 (GRCm39)	F442Y	probably benign	Het
Slc6a11	T	C	6: 114,139,100 (GRCm39)	F236S	probably damaging	Het
Usp1	A	G	4: 98,817,197 (GRCm39)	K130E	probably benign	Het
Zfp386	A	G	12: 116,022,855 (GRCm39)	E156G	probably damaging	Het
Zfp957	C	T	14: 79,450,825 (GRCm39)	V325I	unknown	Het

Other mutations in Slc34a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-04-16