Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03173:Slc34a1'

411926

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 #

IGL03173

Quality Score

Status

Chromosome

Chromosomal Location

55547435-55562508 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55561089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 518 (L518P)

Ref Sequence

ENSEMBL: ENSMUSP00000153038 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021948] [ENSMUST00000054146] [ENSMUST00000057167] [ENSMUST00000170921] [ENSMUST00000224925] [ENSMUST00000225259]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021948

SMART Domains

Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
FN2	40	88	4.3e-24	SMART
EGF	97	131	4.22e-4	SMART
FN1	135	175	2.4e-13	SMART
EGF	177	210	3.94e-4	SMART
KR	215	297	6.88e-27	SMART
low complexity region	302	320	N/A	INTRINSIC
Tryp_SPc	354	591	7.74e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054146

SMART Domains

Protein: ENSMUSP00000054053
Gene: ENSMUSG00000044444

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	132	7.5e-15	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000057167
AA Change: L518P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490
AA Change: L518P

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

probably benign
Transcript: ENSMUST00000170921

SMART Domains

Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492

Domain	Start	End	E-Value	Type
Tryp_SPc	2	137	3.4e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223954

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224043

Predicted Effect

probably benign
Transcript: ENSMUST00000224925

Predicted Effect

probably damaging
Transcript: ENSMUST00000225259
AA Change: L518P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225538

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg2b	T	C	12: 105,624,553 (GRCm39)	K649E	possibly damaging	Het
Cnnm4	A	G	1: 36,512,173 (GRCm39)		probably benign	Het
Cntrob	C	T	11: 69,200,853 (GRCm39)	A503T	possibly damaging	Het
D3Ertd751e	T	A	3: 41,710,497 (GRCm39)	Y170N	probably damaging	Het
Ddx23	T	C	15: 98,548,885 (GRCm39)	I306V	probably benign	Het
Ep400	A	G	5: 110,856,737 (GRCm39)		probably benign	Het
Gmps	T	C	3: 63,897,750 (GRCm39)	V234A	probably damaging	Het
Hivep2	G	T	10: 14,003,726 (GRCm39)	G108V	possibly damaging	Het
Irgc	T	C	7: 24,132,727 (GRCm39)	E30G	probably damaging	Het
Krt75	T	C	15: 101,481,162 (GRCm39)	Y204C	probably damaging	Het
Ms4a14	G	A	19: 11,281,560 (GRCm39)	L333F	possibly damaging	Het
Or51l4	A	G	7: 103,404,183 (GRCm39)	V203A	probably benign	Het
Or5an6	T	A	19: 12,372,410 (GRCm39)	M261K	possibly damaging	Het
Or8k27	A	T	2: 86,275,788 (GRCm39)	C179*	probably null	Het
Pitpnm3	G	A	11: 71,983,389 (GRCm39)	T80I	probably benign	Het
Pou2f2	T	C	7: 24,799,371 (GRCm39)		probably benign	Het
Sorbs1	T	A	19: 40,351,706 (GRCm39)	T235S	probably damaging	Het
Ssxa1	C	T	X: 20,985,224 (GRCm39)	R41C	probably benign	Het
Syt2	A	G	1: 134,671,317 (GRCm39)	N142D	possibly damaging	Het
Taf3	A	G	2: 9,957,738 (GRCm39)	V143A	probably damaging	Het
Trav13-5	T	C	14: 54,033,534 (GRCm39)		probably benign	Het
Tti1	A	G	2: 157,848,932 (GRCm39)		probably benign	Het
Vmn2r13	T	C	5: 109,319,645 (GRCm39)	E445G	possibly damaging	Het
Zfp663	G	T	2: 165,194,419 (GRCm39)	T600K	probably damaging	Het
Zfp750	G	A	11: 121,404,651 (GRCm39)	Q75*	probably null	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
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

2016-08-02