Mutagenetix > Incidental Mutation

Incidental Mutation 'R5341:Slc34a3'

422307

Institutional Source

Beutler Lab

Gene Symbol

Slc34a3

Ensembl Gene

ENSMUSG00000006469

Gene Name

solute carrier family 34 (sodium phosphate), member 3

Synonyms

Npt2c, NPTIIc

MMRRC Submission

042920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.223) question?

Stock #

R5341 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25118909-25124282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 25120671 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 419 (F419I)

Ref Sequence

ENSEMBL: ENSMUSP00000006638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006638] [ENSMUST00000091318] [ENSMUST00000205192]

AlphaFold

Q80SU6

Predicted Effect

probably benign
Transcript: ENSMUST00000006638
AA Change: F419I

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

SMART Domains

Protein: ENSMUSP00000006638
Gene: ENSMUSG00000006469
AA Change: F419I

Domain	Start	End	E-Value	Type
Pfam:Na_Pi_cotrans	84	231	1.8e-25	PFAM
low complexity region	254	269	N/A	INTRINSIC
Pfam:Na_Pi_cotrans	337	538	1.1e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000091318

SMART Domains

Protein: ENSMUSP00000088868
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091318

SMART Domains

Protein: ENSMUSP00000145470
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142095

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144884

Predicted Effect

probably benign
Transcript: ENSMUST00000205192

SMART Domains

Protein: ENSMUSP00000145127
Gene: ENSMUSG00000089953

Domain	Start	End	E-Value	Type
RING	23	69	8.23e-6	SMART
low complexity region	137	148	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152997

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.2%

Validation Efficiency

97% (64/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of SLC34A transporter family of proteins, and is expressed primarily in the kidney. It is involved in transporting phosphate into cells via sodium cotransport in the renal brush border membrane, and contributes to the maintenance of inorganic phosphate concentration in the kidney. Mutations in this gene are associated with hereditary hypophosphatemic rickets with hypercalciuria. Alternatively spliced transcript variants varying in the 5' UTR have been found for this gene.[provided by RefSeq, Apr 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypercalciuria, hypercalcemia and increased plasma 1,25(OH)2D3 levels but do not develop hypophosphatemia, renal calcification, rickets, or osteomalacia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb3	A	G	10: 85,223,236 (GRCm39)	D15G	unknown	Het
Actr5	C	A	2: 158,467,144 (GRCm39)	S28*	probably null	Het
Adcy1	A	C	11: 7,080,375 (GRCm39)	M373L	probably damaging	Het
Adcyap1r1	C	G	6: 55,455,054 (GRCm39)	F111L	probably benign	Het
Arid5b	A	T	10: 68,113,957 (GRCm39)	F27I	possibly damaging	Het
Art5	C	A	7: 101,747,306 (GRCm39)	V158L	probably benign	Het
Bora	T	A	14: 99,305,530 (GRCm39)	Y300N	probably damaging	Het
Cd300a	A	G	11: 114,784,288 (GRCm39)	T99A	probably damaging	Het
Cdon	A	G	9: 35,381,431 (GRCm39)	Y607C	probably damaging	Het
Cenatac	A	G	9: 44,328,406 (GRCm39)		probably null	Het
Cpxm2	T	A	7: 131,756,342 (GRCm39)		probably benign	Het
Cstdc7	A	G	18: 42,306,496 (GRCm39)	D21G	possibly damaging	Het
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGACCGGGAC	11: 101,629,016 (GRCm39)		probably benign	Het
Dync2i1	T	C	12: 116,219,534 (GRCm39)	E136G	possibly damaging	Het
Enox1	A	C	14: 77,815,096 (GRCm39)	T85P	possibly damaging	Het
Fanci	T	C	7: 79,055,926 (GRCm39)	L158P	probably damaging	Het
Gbgt1	C	A	2: 28,395,019 (GRCm39)	T219N	probably damaging	Het
Gulo	T	C	14: 66,225,707 (GRCm39)	D373G	probably benign	Het
Hivep2	C	A	10: 14,008,336 (GRCm39)	Q1645K	possibly damaging	Het
Iqce	A	C	5: 140,675,814 (GRCm39)	M114R	possibly damaging	Het
Lmbrd1	A	T	1: 24,785,892 (GRCm39)	K396*	probably null	Het
Lrrk2	A	T	15: 91,657,061 (GRCm39)	D1785V	probably damaging	Het
Matcap1	A	T	8: 106,011,687 (GRCm39)	M226K	probably damaging	Het
Mcmdc2	ATAAAAAAAAAGGAAAAATTACCTT	AT	1: 10,011,142 (GRCm39)		probably null	Het
Mepce	A	G	5: 137,781,522 (GRCm39)	V564A	probably damaging	Het
Mmp17	A	T	5: 129,679,193 (GRCm39)	D364V	possibly damaging	Het
Mrgpre	T	C	7: 143,335,246 (GRCm39)	N86D	probably benign	Het
Ms4a20	T	C	19: 11,087,745 (GRCm39)		probably benign	Het
Or2r11	A	T	6: 42,437,098 (GRCm39)	L285Q	probably damaging	Het
Or4f53	T	A	2: 111,087,982 (GRCm39)	I174K	probably damaging	Het
Pate11	A	T	9: 36,388,357 (GRCm39)	K61*	probably null	Het
Pax5	T	C	4: 44,697,630 (GRCm39)	D35G	probably damaging	Het
Pip5k1b	T	A	19: 24,281,440 (GRCm39)	T473S	probably benign	Het
Pkd2l2	A	G	18: 34,542,987 (GRCm39)		probably null	Het
Pygo2	C	A	3: 89,340,067 (GRCm39)	P155Q	probably damaging	Het
Rb1cc1	G	T	1: 6,285,266 (GRCm39)		probably benign	Het
Rbpj	A	G	5: 53,799,425 (GRCm39)	E80G	possibly damaging	Het
Sbno1	A	C	5: 124,546,538 (GRCm39)		probably null	Het
Slc1a1	T	A	19: 28,874,968 (GRCm39)	V182E	probably benign	Het
Snx8	A	G	5: 140,343,886 (GRCm39)	V62A	probably damaging	Het
Sp9	T	C	2: 73,104,858 (GRCm39)	S471P	possibly damaging	Het
Sspo	A	T	6: 48,436,549 (GRCm39)	S1270C	probably damaging	Het
Stk11	A	T	10: 79,962,094 (GRCm39)	T83S	probably benign	Het
Syt13	A	G	2: 92,783,897 (GRCm39)	E389G	probably benign	Het
Taf10	T	C	7: 105,390,139 (GRCm39)		probably benign	Het
Tgm1	A	T	14: 55,937,705 (GRCm39)	S801R	possibly damaging	Het
Thoc2l	A	T	5: 104,665,942 (GRCm39)	T155S	probably damaging	Het
Timeless	T	C	10: 128,083,047 (GRCm39)	F628L	possibly damaging	Het
Tmem171	G	T	13: 98,824,956 (GRCm39)	P225T	probably damaging	Het
Tspan12	A	T	6: 21,835,458 (GRCm39)	C72S	possibly damaging	Het
Txk	T	C	5: 72,853,964 (GRCm39)	T458A	probably benign	Het
Txndc9	A	G	1: 38,026,704 (GRCm39)		probably benign	Het
Uap1	C	A	1: 169,971,000 (GRCm39)	C464F	probably damaging	Het
Ugt2b36	A	T	5: 87,240,087 (GRCm39)	Y99*	probably null	Het
Usp35	T	C	7: 96,975,134 (GRCm39)	Y13C	probably damaging	Het
Vmn1r6	T	G	6: 56,979,789 (GRCm39)	N128K	probably damaging	Het
Vmn2r106	T	A	17: 20,497,788 (GRCm39)	I484L	probably benign	Het
Zdbf2	T	A	1: 63,347,092 (GRCm39)	S1824T	probably benign	Het
Zdhhc4	A	G	5: 143,311,915 (GRCm39)	V19A	probably benign	Het
Zfp955b	C	T	17: 33,524,095 (GRCm39)		probably benign	Het
Zfp97	T	A	17: 17,365,472 (GRCm39)	C324S	probably damaging	Het
Zswim8	G	A	14: 20,766,122 (GRCm39)	D803N	probably damaging	Het

Other mutations in Slc34a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02422:Slc34a3	APN	2	25,122,275 (GRCm39)	missense	probably benign	0.01
IGL02885:Slc34a3	APN	2	25,121,069 (GRCm39)	missense	probably damaging	1.00
IGL03131:Slc34a3	APN	2	25,121,246 (GRCm39)	missense	probably benign
IGL03166:Slc34a3	APN	2	25,122,186 (GRCm39)	missense	probably damaging	0.99
IGL03278:Slc34a3	APN	2	25,122,059 (GRCm39)	missense	probably benign	0.01
PIT4544001:Slc34a3	UTSW	2	25,120,607 (GRCm39)	missense	probably benign	0.27
R0415:Slc34a3	UTSW	2	25,119,122 (GRCm39)	missense	probably benign
R0558:Slc34a3	UTSW	2	25,123,077 (GRCm39)	unclassified	probably benign
R0883:Slc34a3	UTSW	2	25,121,245 (GRCm39)	missense	probably benign
R2107:Slc34a3	UTSW	2	25,120,999 (GRCm39)	missense	probably damaging	0.99
R2329:Slc34a3	UTSW	2	25,119,422 (GRCm39)	missense	possibly damaging	0.95
R3108:Slc34a3	UTSW	2	25,119,257 (GRCm39)	missense	probably benign
R4637:Slc34a3	UTSW	2	25,119,473 (GRCm39)	missense	possibly damaging	0.92
R5008:Slc34a3	UTSW	2	25,120,854 (GRCm39)	missense	possibly damaging	0.62
R5623:Slc34a3	UTSW	2	25,123,312 (GRCm39)	splice site	probably null
R6602:Slc34a3	UTSW	2	25,119,221 (GRCm39)	missense	probably damaging	0.99
R7512:Slc34a3	UTSW	2	25,122,253 (GRCm39)	splice site	probably null
R7784:Slc34a3	UTSW	2	25,122,237 (GRCm39)	missense	probably damaging	1.00
R8072:Slc34a3	UTSW	2	25,119,289 (GRCm39)	missense	probably benign	0.01
R8730:Slc34a3	UTSW	2	25,122,057 (GRCm39)	missense	possibly damaging	0.80
R8762:Slc34a3	UTSW	2	25,121,003 (GRCm39)	missense	probably benign	0.03
R8880:Slc34a3	UTSW	2	25,119,267 (GRCm39)	missense	probably benign	0.03
Z1176:Slc34a3	UTSW	2	25,119,410 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCACAGGTCATTTTGGGAAAAC -3'
(R):5'- TCAGCGGCTACTTGGCTATC -3'

Sequencing Primer
(F):5'- GGTCATTTTGGGAAAACAATCCTGG -3'
(R):5'- TATCCTCGTTGGCGCAGG -3'

Posted On

2016-08-04