Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03221:Slc34a1'

413664

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 #

IGL03221

Quality Score

Status

Chromosome

Chromosomal Location

55547435-55562508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55548591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 39 (V39A)

Ref Sequence

ENSEMBL: ENSMUSP00000152974 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000057167
AA Change: V67A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490
AA Change: V67A

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
AA Change: V39A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000225259
AA Change: V67A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b2	C	T	6: 113,737,820 (GRCm39)		probably benign	Het
BC051665	T	A	13: 60,932,242 (GRCm39)	K116*	probably null	Het
Birc6	A	T	17: 74,934,002 (GRCm39)	T2538S	probably benign	Het
Btn2a2	A	G	13: 23,662,619 (GRCm39)	S435P	probably damaging	Het
Efhb	A	G	17: 53,706,014 (GRCm39)	L841P	probably damaging	Het
Etv4	C	T	11: 101,664,988 (GRCm39)	R155K	probably damaging	Het
Fnbp4	T	A	2: 90,608,062 (GRCm39)	M928K	possibly damaging	Het
Grin2c	A	G	11: 115,144,870 (GRCm39)		probably benign	Het
Grip1	A	T	10: 119,822,299 (GRCm39)	M342L	probably benign	Het
H60c	T	A	10: 3,209,799 (GRCm39)	K163*	probably null	Het
Hycc2	C	A	1: 58,579,345 (GRCm39)	V231L	probably benign	Het
Lilrb4b	A	G	10: 51,357,524 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mast4	A	G	13: 102,890,764 (GRCm39)	V838A	possibly damaging	Het
Mypn	C	A	10: 62,966,902 (GRCm39)	D925Y	probably damaging	Het
Nol6	T	C	4: 41,124,166 (GRCm39)	D27G	probably benign	Het
Or4c105	T	C	2: 88,647,781 (GRCm39)	S89P	possibly damaging	Het
Or5b97	G	T	19: 12,878,905 (GRCm39)	P80T	probably damaging	Het
Or8b51	A	T	9: 38,569,661 (GRCm39)	V9E	probably damaging	Het
Pik3c2g	A	G	6: 139,718,133 (GRCm39)		probably null	Het
Pik3c3	G	T	18: 30,435,984 (GRCm39)	M394I	probably benign	Het
Rfx7	C	T	9: 72,526,088 (GRCm39)	R1093C	probably damaging	Het
Scin	A	G	12: 40,126,973 (GRCm39)	V458A	probably benign	Het
Slc6a4	A	G	11: 76,917,931 (GRCm39)	M558V	probably benign	Het
Smpx	T	C	X: 156,503,994 (GRCm39)	V65A	probably damaging	Het
Tmem200a	A	T	10: 25,869,922 (GRCm39)	F116I	possibly damaging	Het
Tnfrsf19	A	T	14: 61,262,227 (GRCm39)	V12E	probably benign	Het
Trpc1	C	T	9: 95,588,953 (GRCm39)	R757H	probably damaging	Het
Ttc38	T	A	15: 85,718,742 (GRCm39)	S51T	probably benign	Het
Wee1	G	A	7: 109,726,024 (GRCm39)	C378Y	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
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

2016-08-02