Mutagenetix > Incidental Mutation

Incidental Mutation 'R8867:Slc17a3'

676032

Institutional Source

Beutler Lab

Gene Symbol

Slc17a3

Ensembl Gene

ENSMUSG00000036083

Gene Name

solute carrier family 17 (sodium phosphate), member 3

Synonyms

Npt4

MMRRC Submission

068682-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8867 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24023417-24044699 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24039943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 327 (V327A)

Ref Sequence

ENSEMBL: ENSMUSP00000039062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039721] [ENSMUST00000091698] [ENSMUST00000110422] [ENSMUST00000166467]

AlphaFold

G3UWD9

Predicted Effect

SMART Domains

Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083
AA Change: V327A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	45	377	3.3e-46	PFAM
transmembrane domain	393	415	N/A	INTRINSIC
transmembrane domain	430	452	N/A	INTRINSIC
transmembrane domain	459	481	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083
AA Change: V249A

Domain	Start	End	E-Value	Type
transmembrane domain	33	55	N/A	INTRINSIC
Pfam:MFS_1	95	293	2.8e-25	PFAM
transmembrane domain	310	332	N/A	INTRINSIC
transmembrane domain	352	369	N/A	INTRINSIC
transmembrane domain	379	398	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083
AA Change: V291A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	39	425	6.7e-47	PFAM
transmembrane domain	453	475	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083
AA Change: V327A

Domain	Start	End	E-Value	Type
Pfam:MFS_1	9	338	2.3e-46	PFAM
transmembrane domain	357	379	N/A	INTRINSIC
transmembrane domain	394	416	N/A	INTRINSIC
transmembrane domain	423	445	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a voltage-driven transporter that excretes intracellular urate and organic anions from the blood into renal tubule cells. Two transcript variants encoding different isoforms have been found for this gene. The longer isoform is a plasma membrane protein with transporter activity while the shorter isoform localizes to the endoplasmic reticulum. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	G	A	4: 73,861,087 (GRCm39)	S171F	probably damaging	Het
A130010J15Rik	T	C	1: 192,857,406 (GRCm39)	S253P	probably damaging	Het
Acbd5	T	C	2: 22,970,370 (GRCm39)	M97T	possibly damaging	Het
Aire	T	C	10: 77,873,809 (GRCm39)	E300G	probably damaging	Het
Ano1	A	G	7: 144,223,397 (GRCm39)	S99P	possibly damaging	Het
Ap5z1	A	G	5: 142,463,011 (GRCm39)	N732D	probably benign	Het
Apcs	A	T	1: 172,722,004 (GRCm39)	L114Q	possibly damaging	Het
Apmap	T	C	2: 150,431,886 (GRCm39)		probably benign	Het
Ark2c	T	C	18: 77,563,182 (GRCm39)	E159G	possibly damaging	Het
Asxl3	C	A	18: 22,649,547 (GRCm39)	T512N	possibly damaging	Het
Atp1a4	T	C	1: 172,072,491 (GRCm39)	T388A	probably damaging	Het
B3galt9	A	G	2: 34,728,636 (GRCm39)	D145G	probably damaging	Het
Bcl2a1a	A	T	9: 88,839,503 (GRCm39)	I134L	probably damaging	Het
Chd6	G	A	2: 160,862,989 (GRCm39)	A444V	probably benign	Het
Cmbl	C	A	15: 31,582,073 (GRCm39)	H23Q	probably benign	Het
Cnnm2	T	A	19: 46,750,996 (GRCm39)	I262N	probably damaging	Het
Col6a3	C	T	1: 90,715,673 (GRCm39)	R2260H	unknown	Het
Cracr2a	T	A	6: 127,606,736 (GRCm39)	L260*	probably null	Het
Csmd2	A	G	4: 128,451,469 (GRCm39)	Y3409C		Het
Cyp4b1	C	T	4: 115,493,169 (GRCm39)	R225H	possibly damaging	Het
Dcdc2a	C	T	13: 25,386,266 (GRCm39)	A380V	probably benign	Het
Dnah6	A	G	6: 72,998,131 (GRCm39)	L4097P	probably damaging	Het
Dppa3	G	A	6: 122,605,602 (GRCm39)	R52Q	probably benign	Het
Fbxo31	C	T	8: 122,281,967 (GRCm39)	R311H	probably benign	Het
Fhad1	T	C	4: 141,656,885 (GRCm39)	R90G	probably damaging	Het
Fitm2	A	T	2: 163,311,602 (GRCm39)	W204R	possibly damaging	Het
Gatb	T	A	3: 85,511,716 (GRCm39)	L157H	probably damaging	Het
Gm5111	G	A	6: 48,566,629 (GRCm39)		probably null	Het
Gm7298	A	C	6: 121,748,788 (GRCm39)	I688L	probably benign	Het
Hecw1	T	C	13: 14,422,275 (GRCm39)		probably null	Het
Ift122	T	A	6: 115,857,632 (GRCm39)	V126E	probably damaging	Het
Iqcf6	A	T	9: 106,504,698 (GRCm39)	I121F	possibly damaging	Het
Kif21a	A	G	15: 90,852,382 (GRCm39)	V902A	probably damaging	Het
Klhl38	T	C	15: 58,178,435 (GRCm39)	M512V	probably benign	Het
Klk1b1	A	C	7: 43,619,747 (GRCm39)	N102T	probably damaging	Het
Lama4	T	A	10: 38,923,996 (GRCm39)	L468Q	probably damaging	Het
Lilra5	A	T	7: 4,241,165 (GRCm39)	Q34L	possibly damaging	Het
Lrrc7	T	A	3: 157,867,521 (GRCm39)	D740V	probably damaging	Het
Mapk7	G	T	11: 61,384,632 (GRCm39)	P25T	probably benign	Het
Mcm3ap	C	A	10: 76,306,538 (GRCm39)	A217D	probably benign	Het
Mucl3	A	T	17: 35,948,872 (GRCm39)	F242L	probably benign	Het
Ncaph2	A	G	15: 89,254,605 (GRCm39)	E406G	probably benign	Het
Ncor2	T	C	5: 125,179,739 (GRCm39)	I69V	unknown	Het
Nfatc3	A	G	8: 106,805,640 (GRCm39)	S170G	probably damaging	Het
Nptn	G	A	9: 58,526,264 (GRCm39)	R137Q	probably damaging	Het
Nsd1	A	T	13: 55,430,570 (GRCm39)	K1581N	probably damaging	Het
Or1q1	T	C	2: 36,887,691 (GRCm39)	Y290H	probably damaging	Het
Or2t43	A	G	11: 58,457,562 (GRCm39)	L203P	probably damaging	Het
Or51l4	G	A	7: 103,403,893 (GRCm39)	Q300*	probably null	Het
Or52ab2	T	A	7: 102,970,449 (GRCm39)	L277Q		Het
Or5be3	G	T	2: 86,863,803 (GRCm39)	T254K	probably damaging	Het
Or6c211	A	T	10: 129,505,628 (GRCm39)	C253*	probably null	Het
Pdcl	T	C	2: 37,242,348 (GRCm39)	E134G	probably damaging	Het
Pikfyve	T	A	1: 65,283,576 (GRCm39)	Y738N	probably damaging	Het
Pkd1	A	G	17: 24,792,807 (GRCm39)	D1498G	probably damaging	Het
Plxna1	T	C	6: 89,310,079 (GRCm39)	N1029D	probably benign	Het
Ppp3cb	C	A	14: 20,596,517 (GRCm39)		probably benign	Het
Prkn	A	G	17: 11,456,448 (GRCm39)	T91A	probably benign	Het
Rgs18	T	A	1: 144,629,698 (GRCm39)	D187V	probably damaging	Het
Ripor2	C	T	13: 24,822,760 (GRCm39)		probably benign	Het
Rpl3l	G	A	17: 24,954,455 (GRCm39)	G172D	probably damaging	Het
Sdf4	A	G	4: 156,093,759 (GRCm39)	T298A	probably damaging	Het
Skic3	C	T	13: 76,279,428 (GRCm39)	S620L	probably damaging	Het
Slc4a1ap	T	A	5: 31,708,059 (GRCm39)	F677L	probably benign	Het
Stoml2	A	G	4: 43,028,256 (GRCm39)	V324A	probably benign	Het
Syne2	A	G	12: 75,989,620 (GRCm39)	Q1833R	probably damaging	Het
Syt6	A	G	3: 103,534,371 (GRCm39)	N481D	possibly damaging	Het
Tert	T	C	13: 73,776,566 (GRCm39)	M439T	probably benign	Het
Thsd7a	A	T	6: 12,338,686 (GRCm39)	D1181E		Het
Tln2	G	A	9: 67,237,832 (GRCm39)	T33I	probably damaging	Het
Top3a	A	G	11: 60,633,481 (GRCm39)	S872P	probably benign	Het
Trim10	T	C	17: 37,181,048 (GRCm39)	L93P	probably benign	Het
Trpc7	C	T	13: 57,008,746 (GRCm39)	S307N	probably benign	Het
Ttn	A	T	2: 76,640,427 (GRCm39)	V13727E	probably damaging	Het
Vmn1r220	T	C	13: 23,368,271 (GRCm39)	S142G	probably benign	Het
Vmn1r32	A	G	6: 66,530,651 (GRCm39)	S42P	probably damaging	Het
Zc3h7b	G	A	15: 81,656,681 (GRCm39)	R166Q	probably benign	Het
Zfp683	C	T	4: 133,785,995 (GRCm39)	T374I	probably damaging	Het

Other mutations in Slc17a3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00920:Slc17a3	APN	13	24,040,464 (GRCm39)	missense	probably benign	0.20
IGL02569:Slc17a3	APN	13	24,030,285 (GRCm39)	missense	probably damaging	1.00
IGL02628:Slc17a3	APN	13	24,026,434 (GRCm39)	start codon destroyed	probably null	1.00
IGL02745:Slc17a3	APN	13	24,026,469 (GRCm39)	missense	probably benign	0.01
IGL03001:Slc17a3	APN	13	24,040,767 (GRCm39)	missense	probably damaging	1.00
IGL03143:Slc17a3	APN	13	24,039,962 (GRCm39)	splice site	probably null
IGL03144:Slc17a3	APN	13	24,030,423 (GRCm39)	missense	probably benign	0.00
R0052:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0054:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0131:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0131:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0152:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0153:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0233:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0234:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0257:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0294:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0295:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0318:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0319:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0352:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0462:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0610:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0627:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0652:Slc17a3	UTSW	13	24,039,841 (GRCm39)	missense	probably damaging	1.00
R0765:Slc17a3	UTSW	13	24,030,879 (GRCm39)	nonsense	probably null
R1529:Slc17a3	UTSW	13	24,029,428 (GRCm39)	missense	probably damaging	1.00
R1532:Slc17a3	UTSW	13	24,040,483 (GRCm39)	missense	probably damaging	1.00
R1569:Slc17a3	UTSW	13	24,039,591 (GRCm39)	missense	probably benign	0.09
R1640:Slc17a3	UTSW	13	24,036,340 (GRCm39)	nonsense	probably null
R1643:Slc17a3	UTSW	13	24,041,181 (GRCm39)	splice site	probably benign
R1715:Slc17a3	UTSW	13	24,040,724 (GRCm39)	missense	probably benign	0.19
R2407:Slc17a3	UTSW	13	24,036,418 (GRCm39)	critical splice donor site	probably null
R2512:Slc17a3	UTSW	13	24,030,230 (GRCm39)	missense	probably benign	0.13
R3923:Slc17a3	UTSW	13	24,042,037 (GRCm39)	missense	possibly damaging	0.89
R4449:Slc17a3	UTSW	13	24,040,715 (GRCm39)	missense	probably damaging	0.99
R5166:Slc17a3	UTSW	13	24,026,525 (GRCm39)	critical splice donor site	probably null
R5748:Slc17a3	UTSW	13	24,040,449 (GRCm39)	missense	probably damaging	1.00
R5989:Slc17a3	UTSW	13	24,026,411 (GRCm39)	start gained	probably benign
R6281:Slc17a3	UTSW	13	24,040,782 (GRCm39)	missense	probably benign	0.17
R6811:Slc17a3	UTSW	13	24,039,924 (GRCm39)	missense	possibly damaging	0.61
R7283:Slc17a3	UTSW	13	24,039,831 (GRCm39)	missense
R7341:Slc17a3	UTSW	13	24,030,867 (GRCm39)	nonsense	probably null
R7467:Slc17a3	UTSW	13	24,030,950 (GRCm39)	critical splice donor site	probably null
R7485:Slc17a3	UTSW	13	24,039,832 (GRCm39)	missense
R8065:Slc17a3	UTSW	13	24,042,070 (GRCm39)	missense	unknown
R8770:Slc17a3	UTSW	13	24,039,607 (GRCm39)	missense
R8809:Slc17a3	UTSW	13	24,039,575 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TAATGGTGGCTGAGACTCTGAG -3'
(R):5'- GCAACCTCCCAGCAAAGTTG -3'

Sequencing Primer
(F):5'- AGACTCTGAGCCTCGTGTTGATC -3'
(R):5'- TTTTAAATATCAAGCACGGGGG -3'

Posted On

2021-07-15