Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02555:Slc34a1'

298463

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 #

IGL02555

Quality Score

Status

Chromosome

Chromosomal Location

55547435-55562508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55548981 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 144 (S144P)

Ref Sequence

ENSEMBL: ENSMUSP00000153038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057167] [ENSMUST00000224925] [ENSMUST00000225259]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057167
AA Change: S144P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490
AA Change: S144P

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

possibly damaging
Transcript: ENSMUST00000225259
AA Change: S144P

PolyPhen 2 Score 0.775 (Sensitivity: 0.85; Specificity: 0.92)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr1b	G	A	1: 36,740,828 (GRCm39)	R199C	probably damaging	Het
Adam34l	A	T	8: 44,078,305 (GRCm39)	C640S	probably damaging	Het
Adam9	T	C	8: 25,456,752 (GRCm39)	N661D	probably damaging	Het
Amy1	C	T	3: 113,358,541 (GRCm39)	E164K	probably benign	Het
Arid5b	A	C	10: 67,937,734 (GRCm39)	D221E	probably benign	Het
B3galt1	G	T	2: 67,948,905 (GRCm39)	V207F	probably benign	Het
Begain	A	G	12: 109,000,115 (GRCm39)	S219P	probably damaging	Het
Clip1	A	G	5: 123,759,857 (GRCm39)		probably null	Het
Cps1	A	G	1: 67,253,180 (GRCm39)	K1224R	probably benign	Het
Dnm1	A	G	2: 32,218,050 (GRCm39)	Y449H	probably damaging	Het
Epas1	A	T	17: 87,136,492 (GRCm39)	M755L	probably benign	Het
F13b	T	C	1: 139,444,924 (GRCm39)	C525R	probably damaging	Het
Fmnl2	A	G	2: 53,016,863 (GRCm39)		probably null	Het
Ighv5-15	A	G	12: 113,790,735 (GRCm39)	F3L	probably benign	Het
Inpp4a	A	G	1: 37,419,049 (GRCm39)	Q538R	possibly damaging	Het
Insrr	A	T	3: 87,721,124 (GRCm39)	M1092L	probably damaging	Het
Itgb8	C	T	12: 119,153,616 (GRCm39)	V300M	probably damaging	Het
Kcnk5	A	T	14: 20,192,053 (GRCm39)	H369Q	probably benign	Het
Ly6m	G	T	15: 74,753,457 (GRCm39)		probably benign	Het
Or1m1	T	A	9: 18,666,769 (GRCm39)	H54L	probably benign	Het
Or4a76	G	A	2: 89,460,547 (GRCm39)	R232C	probably damaging	Het
Or4k44	A	G	2: 111,368,262 (GRCm39)	V124A	probably damaging	Het
Or5m10	G	A	2: 85,717,742 (GRCm39)	M199I	probably benign	Het
Plxdc2	A	G	2: 16,734,152 (GRCm39)	I417M	probably benign	Het
Polr1a	G	A	6: 71,897,441 (GRCm39)	E186K	probably damaging	Het
Ppp3cb	A	T	14: 20,581,021 (GRCm39)	F134L	probably damaging	Het
Prox2	C	T	12: 85,142,034 (GRCm39)	W56*	probably null	Het
Scaf4	C	T	16: 90,047,193 (GRCm39)	A395T	unknown	Het
Sh3tc2	G	T	18: 62,123,308 (GRCm39)	A690S	probably damaging	Het
Slc6a6	C	T	6: 91,725,311 (GRCm39)		probably benign	Het
Tubgcp3	A	T	8: 12,689,595 (GRCm39)	M557K	probably benign	Het
Vmn2r103	A	T	17: 20,031,873 (GRCm39)	D549V	probably damaging	Het
Washc2	T	A	6: 116,186,061 (GRCm39)	N90K	probably damaging	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
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

2015-04-16