Mutagenetix > Incidental Mutations

Incidental Mutation 'R5363:Slc34a1'

422948

Institutional Source

Beutler Lab

Gene Symbol

Slc34a1

Ensembl Gene

ENSMUSG00000021490

Gene Name

solute carrier family 34 (sodium phosphate), member 1

Synonyms

Na/Pi cotransporter, Npt2, NaPi-IIa, Slc17a2, renal Na+/Pi transporter

MMRRC Submission

042941-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5363 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55398187-55415592 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55403268 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 289 (I289V)

Ref Sequence

ENSEMBL: ENSMUSP00000153038 (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: I289V

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490
AA Change: I289V

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: I170V

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000225259
AA Change: I289V

PolyPhen 2 Score 0.157 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
8030411F24Rik	G	T	2: 148,783,378	L77F	probably damaging	Het
Abca1	A	G	4: 53,132,963	I40T	probably benign	Het
Abca13	T	C	11: 9,277,035	V597A	possibly damaging	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Anapc1	A	G	2: 128,650,194		probably null	Het
Ap4e1	G	A	2: 127,037,864		probably null	Het
Apod	T	C	16: 31,311,091	T16A	probably benign	Het
Arrdc5	C	T	17: 56,300,138	V36M	probably damaging	Het
Bcan	A	G	3: 87,995,487	V328A	probably damaging	Het
Bche	A	G	3: 73,700,639	Y485H	probably damaging	Het
Btbd6	A	G	12: 112,978,136	Y356C	probably damaging	Het
Cdh4	A	G	2: 179,886,763	T555A	probably benign	Het
Ciita	C	T	16: 10,512,167	H769Y	probably damaging	Het
Clspn	A	G	4: 126,561,786	D35G	possibly damaging	Het
Cpsf3	T	A	12: 21,308,985	M562K	probably benign	Het
Cwc22	ATCTCTCTCTCTCTCTCT	ATCTCTCTCTCTCTCT	2: 77,929,459		probably null	Het
Cyp2a22	T	A	7: 26,936,433	Q235L	probably damaging	Het
Dicer1	A	G	12: 104,703,151	S1091P	probably damaging	Het
Dync1li1	T	A	9: 114,715,229	I323N	probably damaging	Het
Fam196b	G	A	11: 34,402,788	E277K	probably damaging	Het
Fat4	A	G	3: 38,888,005	N349S	probably damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Hectd4	T	C	5: 121,310,603	M338T	probably benign	Het
Lactb2	A	T	1: 13,630,132	I225N	probably benign	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mrps30	A	G	13: 118,387,162	S25P	probably benign	Het
Myg1	T	C	15: 102,337,824	V378A	probably benign	Het
Notch4	C	T	17: 34,587,123	T1731I	probably damaging	Het
Ntmt1	A	G	2: 30,820,648	D121G	probably damaging	Het
Olfr1167	A	T	2: 88,149,802	D72E	probably damaging	Het
Olfr763	C	A	10: 129,011,914	P210T	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pclo	A	G	5: 14,669,410	D1187G	unknown	Het
Pkd1	T	A	17: 24,565,073	Y198N	probably benign	Het
Plk4	T	A	3: 40,801,984	N83K	possibly damaging	Het
Prune2	A	T	19: 17,118,266	Q378L	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa1	G	T	13: 85,288,555	T118K	possibly damaging	Het
Rin3	G	A	12: 102,325,834	V97M	probably damaging	Het
Rock2	T	C	12: 16,965,654		probably null	Het
Slco2a1	A	T	9: 103,070,263	I254F	probably damaging	Het
Spink11	T	C	18: 44,195,686	I32V	probably benign	Het
Spire1	T	C	18: 67,506,555	E296G	probably damaging	Het
Sun1	A	G	5: 139,234,743	N410D	probably damaging	Het
Syt14	T	A	1: 192,930,663	T610S	possibly damaging	Het
Tenm3	T	C	8: 48,287,831	I1206V	possibly damaging	Het
Tet3	A	T	6: 83,376,764		probably null	Het
Thbs1	A	T	2: 118,122,666	Q919L	probably damaging	Het
Trappc10	A	G	10: 78,188,840	F1152L	possibly damaging	Het
Trp63	C	A	16: 25,863,718	N176K	probably damaging	Het
Zbtb17	A	G	4: 141,466,761	E700G	probably benign	Het
Zfp446	G	A	7: 12,978,057	R69H	probably benign	Het
Zfy2	C	T	Y: 2,106,555	C693Y	possibly damaging	Het
Zxdc	A	G	6: 90,382,146	T587A	probably damaging	Het
Zyg11a	A	G	4: 108,189,622	C552R	probably damaging	Het

Other mutations in Slc34a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Slc34a1	APN	13	55409071	missense	probably damaging	1.00
IGL01396:Slc34a1	APN	13	55402733	missense	probably damaging	1.00
IGL01405:Slc34a1	APN	13	55412128	missense	probably damaging	1.00
IGL02525:Slc34a1	APN	13	55403238	splice site	probably benign
IGL02555:Slc34a1	APN	13	55401168	missense	possibly damaging	0.77
IGL02692:Slc34a1	APN	13	55403236	splice site	probably benign
IGL03173:Slc34a1	APN	13	55413276	missense	probably damaging	0.99
IGL03221:Slc34a1	APN	13	55400778	missense	probably benign	0.00
R0190:Slc34a1	UTSW	13	55409101	missense	probably benign	0.00
R0196:Slc34a1	UTSW	13	55412265	missense	probably damaging	0.99
R0362:Slc34a1	UTSW	13	55402898	splice site	probably null
R1055:Slc34a1	UTSW	13	55403033	missense	probably benign	0.26
R1243:Slc34a1	UTSW	13	55412131	missense	possibly damaging	0.85
R1414:Slc34a1	UTSW	13	55400711	missense	probably benign
R1566:Slc34a1	UTSW	13	55412031	critical splice acceptor site	probably null
R1732:Slc34a1	UTSW	13	55413420	missense	probably benign
R1901:Slc34a1	UTSW	13	55401150	nonsense	probably null
R2423:Slc34a1	UTSW	13	55409052	missense	possibly damaging	0.63
R2986:Slc34a1	UTSW	13	55403329	missense	probably benign	0.00
R3940:Slc34a1	UTSW	13	55413170	missense	probably damaging	1.00
R4003:Slc34a1	UTSW	13	55402661	splice site	probably benign
R4553:Slc34a1	UTSW	13	55412061	splice site	probably null
R4735:Slc34a1	UTSW	13	55413584	missense	probably benign	0.13
R5177:Slc34a1	UTSW	13	55401162	missense	probably damaging	0.99
R5345:Slc34a1	UTSW	13	55400518	missense	probably benign
R5363:Slc34a1	UTSW	13	55412290	missense	probably damaging	1.00
R5668:Slc34a1	UTSW	13	55409085	missense	possibly damaging	0.94
R5685:Slc34a1	UTSW	13	55401272	critical splice donor site	probably null
R5782:Slc34a1	UTSW	13	55402688	missense	possibly damaging	0.92
R5836:Slc34a1	UTSW	13	55413465	missense	probably benign	0.05
R6047:Slc34a1	UTSW	13	55412071	missense	probably damaging	1.00
R6496:Slc34a1	UTSW	13	55402682	missense	probably benign	0.15
R7158:Slc34a1	UTSW	13	55401231	missense	probably damaging	0.99
R7384:Slc34a1	UTSW	13	55402934	missense	probably benign	0.00
R7694:Slc34a1	UTSW	13	55413408	missense	probably benign	0.22
R8977:Slc34a1	UTSW	13	55409002	missense	probably benign	0.01
X0022:Slc34a1	UTSW	13	55403015	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCATCATCCAGGTGAGGGTG -3'
(R):5'- GCTAGGAGGGATTACCAATGTC -3'

Sequencing Primer
(F):5'- TGGGACTTGCCACAGGATG -3'
(R):5'- TCCTGGCTGTACTGATGCAGAAC -3'

Posted On

2016-08-04