Mutagenetix > Incidental Mutation

Incidental Mutation 'R5321:Slc34a1'

406119

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

042904-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5321 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

55547435-55562508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23996614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 40 (I40F)

Ref Sequence

ENSEMBL: ENSMUSP00000097288 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006786
AA Change: I40F

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000006786
Gene: ENSMUSG00000036110
AA Change: I40F

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099697
AA Change: I40F

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097288
Gene: ENSMUSG00000036110
AA Change: I40F

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

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,218,651 (GRCm39)	F72L	probably benign	Het
Btrc	G	A	19: 45,496,197 (GRCm39)	V211M	probably damaging	Het
Col6a5	A	T	9: 105,805,664 (GRCm39)	Y1081N	unknown	Het
Cryzl1	T	C	16: 91,504,118 (GRCm39)	Y109C	probably benign	Het
Dlec1	T	A	9: 118,941,669 (GRCm39)	S352T	probably benign	Het
Dzip3	T	G	16: 48,778,038 (GRCm39)	T349P	possibly damaging	Het
Endou	A	G	15: 97,618,913 (GRCm39)	V37A	probably damaging	Het
Exosc1	A	T	19: 41,912,499 (GRCm39)	C129*	probably null	Het
Flywch1	C	G	17: 23,975,625 (GRCm39)	R539P	probably damaging	Het
Gm14410	G	A	2: 176,885,298 (GRCm39)	T322I	probably damaging	Het
Lcor	G	T	19: 41,573,643 (GRCm39)	W799C	probably damaging	Het
Lpin2	G	A	17: 71,553,853 (GRCm39)	V857M	probably damaging	Het
Or52ae9	T	C	7: 103,389,862 (GRCm39)	N195S	probably damaging	Het
Patl1	A	G	19: 11,898,785 (GRCm39)	Q160R	probably damaging	Het
Phtf1	C	T	3: 103,910,827 (GRCm39)	T606I	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,403,370 (GRCm39)	S207G	unknown	Het
Slc15a5	G	T	6: 137,964,436 (GRCm39)	N496K	probably benign	Het
Tdrd12	A	C	7: 35,177,519 (GRCm39)	V945G	probably damaging	Het
Tdrkh	C	A	3: 94,332,965 (GRCm39)	L169I	probably damaging	Het
Tmem59l	A	G	8: 70,939,865 (GRCm39)	C35R	probably damaging	Het
Tpte	A	T	8: 22,787,219 (GRCm39)	R33*	probably null	Het
Trpv2	T	A	11: 62,475,397 (GRCm39)	L270H	probably damaging	Het
Utp18	A	G	11: 93,757,260 (GRCm39)	L468P	probably damaging	Het
Uxs1	A	G	1: 43,844,805 (GRCm39)	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,409,427 (GRCm39)	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,933,182 (GRCm39)	L112*	probably null	Het
Vmn1r5	T	C	6: 56,962,592 (GRCm39)	L89P	probably damaging	Het
Vmn2r10	G	T	5: 109,143,505 (GRCm39)	A815E	probably damaging	Het
Zfp119a	A	T	17: 56,172,595 (GRCm39)	L416H	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
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
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'- CCTCAGCCTGATGACAACTG -3'
(R):5'- AAGACTGAAGCCTCCCTCTC -3'

Sequencing Primer
(F):5'- TTGCCTGGTAAAGCCCATG -3'
(R):5'- GAAGCCTCCCTCTCCTGTTCTTG -3'

Posted On

2016-07-22