Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00820:Slc34a1'

14046

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 #

IGL00820

Quality Score

Status

Chromosome

Chromosomal Location

55547435-55562508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24003317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 285 (H285R)

Ref Sequence

ENSEMBL: ENSMUSP00000097288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006786] [ENSMUST00000099697]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006786
AA Change: H285R

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110
AA Change: H285R

Domain	Start	End	E-Value	Type
Pfam:MFS_1	19	425	3.5e-44	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099697
AA Change: H285R

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110
AA Change: H285R

Domain	Start	End	E-Value	Type
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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	A	5: 105,083,878 (GRCm39)	I631F	probably benign	Het
Baiap3	T	C	17: 25,467,664 (GRCm39)	D314G	probably benign	Het
Ccl1	T	C	11: 82,068,914 (GRCm39)	E41G	possibly damaging	Het
Ephx1	T	C	1: 180,827,386 (GRCm39)	Y89C	possibly damaging	Het
Fbxw18	G	A	9: 109,522,437 (GRCm39)	T144I	probably damaging	Het
Galt	C	T	4: 41,758,570 (GRCm39)	A357V	probably benign	Het
Gfra1	T	C	19: 58,252,337 (GRCm39)		probably benign	Het
Hivep1	A	T	13: 42,337,294 (GRCm39)	I2458L	probably benign	Het
Itga8	A	G	2: 12,237,703 (GRCm39)	V339A	possibly damaging	Het
Klk1b8	T	C	7: 43,604,210 (GRCm39)	I226T	probably benign	Het
Mfsd6	C	T	1: 52,747,465 (GRCm39)	V467M	probably damaging	Het
Mrpl16	T	C	19: 11,751,777 (GRCm39)	V179A	probably benign	Het
Or52e19b	G	A	7: 103,032,672 (GRCm39)	T179I	probably damaging	Het
Pnpla6	A	G	8: 3,582,358 (GRCm39)	T693A	possibly damaging	Het
Ptpn2	A	C	18: 67,808,862 (GRCm39)	I318R	possibly damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Spmip6	A	T	4: 41,507,178 (GRCm39)	L206Q	probably damaging	Het
Sptb	A	G	12: 76,679,251 (GRCm39)	L68P	probably damaging	Het
Stxbp6	G	A	12: 44,908,129 (GRCm39)	T163I	probably damaging	Het
Tex15	A	G	8: 34,069,034 (GRCm39)		probably benign	Het
Tti1	T	C	2: 157,850,888 (GRCm39)	E117G	probably damaging	Het
Ube4b	T	C	4: 149,437,378 (GRCm39)		probably benign	Het
Wipi1	A	C	11: 109,473,945 (GRCm39)		probably benign	Het
Zan	A	T	5: 137,384,626 (GRCm39)	C5133S	unknown	Het

Other mutations in Slc34a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06