Mutagenetix > Incidental Mutation

Incidental Mutation 'R7341:Slc17a3'

569882

Institutional Source

Beutler Lab

Gene Symbol

Slc17a3

Ensembl Gene

ENSMUSG00000036083

Gene Name

solute carrier family 17 (sodium phosphate), member 3

Synonyms

Npt4

MMRRC Submission

045431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24023417-24044699 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 24030867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 182 (G182*)

Ref Sequence

ENSEMBL: ENSMUSP00000039062 (fasta)

Gene Model

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

AlphaFold

G3UWD9

Predicted Effect

probably null
Transcript: ENSMUST00000039721
AA Change: G182*

SMART Domains

Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083
AA Change: G182*

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

probably null
Transcript: ENSMUST00000091698
AA Change: G104*

SMART Domains

Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083
AA Change: G104*

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

probably null
Transcript: ENSMUST00000110422
AA Change: G146*

SMART Domains

Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083
AA Change: G146*

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

Predicted Effect

probably null
Transcript: ENSMUST00000166467
AA Change: G182*

SMART Domains

Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083
AA Change: G182*

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam3	T	A	8: 25,177,996 (GRCm39)	N639I	possibly damaging	Het
Adamtsl3	T	A	7: 82,206,082 (GRCm39)	C756S	probably damaging	Het
Arhgap31	C	T	16: 38,532,876 (GRCm39)		probably null	Het
Ascl4	G	A	10: 85,764,529 (GRCm39)	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,889,066 (GRCm39)	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330 (GRCm39)	D206G	possibly damaging	Het
Baz1b	T	A	5: 135,251,970 (GRCm39)	L923I	probably damaging	Het
Birc6	T	A	17: 74,919,069 (GRCm39)	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,946,200 (GRCm39)	N3025S	probably benign	Het
Bub1b	C	A	2: 118,467,267 (GRCm39)	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,554,411 (GRCm39)	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644 (GRCm39)	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,014,552 (GRCm39)	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,837,610 (GRCm39)	N437K	probably benign	Het
Cdhr2	T	A	13: 54,867,305 (GRCm39)	L408Q	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chd1	T	C	17: 15,990,499 (GRCm39)	S1684P	probably damaging	Het
CN725425	A	G	15: 91,126,873 (GRCm39)	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,448,678 (GRCm39)	V66A	probably damaging	Het
Cpd	C	A	11: 76,737,779 (GRCm39)	R5L	unknown	Het
Cpeb4	C	T	11: 31,868,807 (GRCm39)	T422I	possibly damaging	Het
Cspg4b	G	T	13: 113,454,706 (GRCm39)	G251C		Het
Cyp1a1	G	T	9: 57,608,107 (GRCm39)	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,705,928 (GRCm39)	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,774,787 (GRCm39)	F122L	probably benign	Het
Drc1	T	A	5: 30,521,812 (GRCm39)	L728Q	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Ecpas	A	T	4: 58,809,415 (GRCm39)	V1653D	possibly damaging	Het
Ermp1	T	A	19: 29,623,654 (GRCm39)	H112L	probably benign	Het
Exoc8	T	C	8: 125,623,320 (GRCm39)	D349G	probably damaging	Het
Fam151a	T	A	4: 106,592,707 (GRCm39)	M63K	probably benign	Het
Fmo9	C	A	1: 166,504,115 (GRCm39)	G149V	probably damaging	Het
Fndc8	A	G	11: 82,789,603 (GRCm39)	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,937,862 (GRCm39)	V365I	probably benign	Het
Frem2	C	T	3: 53,561,916 (GRCm39)	G864S	probably damaging	Het
Fstl5	T	A	3: 76,389,704 (GRCm39)		probably null	Het
Garnl3	T	A	2: 32,924,141 (GRCm39)	E247V	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gorasp1	T	A	9: 119,766,600 (GRCm39)		probably benign	Het
Hcar2	T	C	5: 124,002,541 (GRCm39)	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,190,395 (GRCm39)	M131I	probably damaging	Het
Kif13a	A	G	13: 46,980,221 (GRCm39)	V177A	probably damaging	Het
Limch1	C	T	5: 67,191,545 (GRCm39)	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,906 (GRCm39)	Y260C	possibly damaging	Het
Lmo7	A	G	14: 102,122,948 (GRCm39)	N379S	probably benign	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,598,711 (GRCm39)	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,755,133 (GRCm39)	Y303H	probably damaging	Het
Mecr	T	G	4: 131,570,986 (GRCm39)	V58G	probably null	Het
Med12l	T	A	3: 58,949,824 (GRCm39)	D193E	possibly damaging	Het
Moap1	T	C	12: 102,709,438 (GRCm39)	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Ndufs5	A	T	4: 123,609,744 (GRCm39)	C43*	probably null	Het
Oaz2	A	T	9: 65,596,183 (GRCm39)	D83V		Het
Or2t29	A	T	11: 58,433,533 (GRCm39)	Y269*	probably null	Het
Or5ac22	T	A	16: 59,135,512 (GRCm39)	N86I	possibly damaging	Het
Palm	A	G	10: 79,652,697 (GRCm39)	T191A	probably damaging	Het
Pclo	C	A	5: 14,725,850 (GRCm39)	D1569E	unknown	Het
Ppid	T	A	3: 79,507,604 (GRCm39)	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,749 (GRCm39)	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,321,619 (GRCm39)	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,161,827 (GRCm39)	T68A	probably benign	Het
Rbm15b	C	T	9: 106,762,246 (GRCm39)	G641R	probably benign	Het
Rgsl1	A	G	1: 153,669,591 (GRCm39)	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837 (GRCm39)	Y98*	probably null	Het
Sfxn3	T	G	19: 45,037,701 (GRCm39)	N52K	probably benign	Het
Slc29a3	A	T	10: 60,586,437 (GRCm39)	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,693,278 (GRCm39)	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,800,435 (GRCm39)	I210F	possibly damaging	Het
Snapc4	A	T	2: 26,259,273 (GRCm39)	S626T	probably benign	Het
Sp5	T	A	2: 70,307,041 (GRCm39)	L242*	probably null	Het
Spata25	C	G	2: 164,669,582 (GRCm39)	G143A	probably damaging	Het
Spata6	T	A	4: 111,625,935 (GRCm39)	Y101*	probably null	Het
Tdp2	T	G	13: 25,016,059 (GRCm39)	S89A	probably benign	Het
Tlr6	T	C	5: 65,110,972 (GRCm39)	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,794 (GRCm39)	I355V	probably benign	Het
Trappc8	A	T	18: 20,985,704 (GRCm39)	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,657,205 (GRCm39)	N399S	probably damaging	Het
Ube4b	A	G	4: 149,427,458 (GRCm39)	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,315,759 (GRCm39)		probably null	Het
Vmn2r1	T	C	3: 64,012,877 (GRCm39)	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,234,113 (GRCm39)	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,811 (GRCm39)	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,953,725 (GRCm39)	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,868,395 (GRCm39)	M442K	possibly damaging	Het
Ydjc	T	C	16: 16,968,762 (GRCm39)	C234R	probably benign	Het
Zfp87	A	G	13: 74,520,467 (GRCm39)	Y204H	possibly 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
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
R8867:Slc17a3	UTSW	13	24,039,943 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CAAGGCTTAATGCAGGTATCAAG -3'
(R):5'- AGAATCAGCAAAAGGACCGTTC -3'

Sequencing Primer
(F):5'- CTCCTTCTAAATGTAAACCAGGCTGG -3'
(R):5'- GCAAAAGGACCGTTCAACAG -3'

Posted On

2019-09-13