Mutagenetix > Incidental Mutation

Incidental Mutation 'R1640:Slc17a3'

173485

Institutional Source

Beutler Lab

Gene Symbol

Slc17a3

Ensembl Gene

ENSMUSG00000036083

Gene Name

solute carrier family 17 (sodium phosphate), member 3

Synonyms

Npt4

MMRRC Submission

039676-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1640 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24023417-24044699 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 24036340 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 212 (L212*)

Ref Sequence

ENSEMBL: ENSMUSP00000131308 (fasta)

Gene Model

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

AlphaFold

G3UWD9

Predicted Effect

probably null
Transcript: ENSMUST00000039721
AA Change: L212*

SMART Domains

Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083
AA Change: L212*

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: L134*

SMART Domains

Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083
AA Change: L134*

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: L176*

SMART Domains

Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083
AA Change: L176*

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: L212*

SMART Domains

Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083
AA Change: L212*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225076

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.2%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	A	8: 125,566,584 (GRCm39)	V279L	probably damaging	Het
Acot6	A	T	12: 84,147,900 (GRCm39)	Y52F	probably damaging	Het
Adam22	C	T	5: 8,195,689 (GRCm39)	V284I	probably damaging	Het
Agl	A	T	3: 116,545,739 (GRCm39)	H1352Q	probably benign	Het
Aldh18a1	G	A	19: 40,573,943 (GRCm39)	P27S	probably benign	Het
C1ra	A	G	6: 124,499,233 (GRCm39)	N473S	probably benign	Het
C87436	T	C	6: 86,423,233 (GRCm39)	L269P	probably damaging	Het
Calcrl	A	G	2: 84,164,021 (GRCm39)	V390A	probably damaging	Het
Ccp110	T	G	7: 118,314,751 (GRCm39)		probably null	Het
Cerk	A	G	15: 86,033,601 (GRCm39)	V274A	probably damaging	Het
Chd1l	A	T	3: 97,488,307 (GRCm39)	S570T	probably benign	Het
Chst14	T	A	2: 118,757,379 (GRCm39)	W83R	probably damaging	Het
Chsy1	A	T	7: 65,821,262 (GRCm39)	D499V	probably benign	Het
Ckmt1	C	A	2: 121,190,198 (GRCm39)		probably null	Het
Cnot1	A	T	8: 96,496,460 (GRCm39)	V282D	probably damaging	Het
Cntn3	A	T	6: 102,218,974 (GRCm39)	S549T	possibly damaging	Het
Cntnap5c	A	T	17: 58,702,289 (GRCm39)	D1203V	probably benign	Het
Col4a4	A	G	1: 82,513,491 (GRCm39)	Y169H	unknown	Het
Cwc22	A	G	2: 77,745,874 (GRCm39)	F454S	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dhrs7	A	T	12: 72,699,089 (GRCm39)	W298R	possibly damaging	Het
Dock7	G	T	4: 98,833,483 (GRCm39)	T1906N	probably damaging	Het
Dpy19l3	T	C	7: 35,449,203 (GRCm39)	T67A	probably benign	Het
Drc1	A	G	5: 30,521,301 (GRCm39)	D654G	possibly damaging	Het
Ech1	A	T	7: 28,531,264 (GRCm39)	H284L	probably damaging	Het
Epc1	G	A	18: 6,441,175 (GRCm39)	Q8*	probably null	Het
Etv5	A	T	16: 22,254,664 (GRCm39)	D65E	probably damaging	Het
F2rl3	A	G	8: 73,489,534 (GRCm39)	R254G	probably benign	Het
Fabp5	T	G	3: 10,080,170 (GRCm39)	F73L	probably benign	Het
Fbrs	T	C	7: 127,086,483 (GRCm39)	I611T	probably damaging	Het
Flnc	T	C	6: 29,433,806 (GRCm39)	S117P	possibly damaging	Het
Frmd4b	A	C	6: 97,285,634 (GRCm39)	S291A	possibly damaging	Het
Galnt13	A	G	2: 54,950,558 (GRCm39)	Y413C	probably damaging	Het
Gfer	A	G	17: 24,914,337 (GRCm39)	Y109H	possibly damaging	Het
Gli2	T	C	1: 118,764,254 (GRCm39)	H1299R	possibly damaging	Het
Gm10110	T	C	14: 90,135,679 (GRCm39)		noncoding transcript	Het
Gprc5a	T	G	6: 135,055,652 (GRCm39)	L33W	probably damaging	Het
Grin3a	T	C	4: 49,844,721 (GRCm39)	T121A	probably benign	Het
Grk3	A	G	5: 113,163,248 (GRCm39)	V33A	probably benign	Het
Hc	A	T	2: 34,947,336 (GRCm39)	Y59*	probably null	Het
Hrnr	A	G	3: 93,239,823 (GRCm39)	I3354V	unknown	Het
Hyou1	C	G	9: 44,300,703 (GRCm39)	T924S	probably benign	Het
Ifi209	T	G	1: 173,464,931 (GRCm39)	H20Q	probably damaging	Het
Ifi44	A	G	3: 151,438,171 (GRCm39)	V372A	probably benign	Het
Igdcc4	T	A	9: 65,030,077 (GRCm39)	L328H	probably damaging	Het
Jkampl	A	G	6: 73,445,869 (GRCm39)	Y227H	probably benign	Het
Kif18a	A	G	2: 109,120,161 (GRCm39)	T155A	probably benign	Het
Kmt2d	A	G	15: 98,742,938 (GRCm39)		probably benign	Het
Kri1	T	C	9: 21,191,753 (GRCm39)	D281G	possibly damaging	Het
Larp1b	T	A	3: 40,988,507 (GRCm39)	M1K	probably null	Het
Loxhd1	A	G	18: 77,490,259 (GRCm39)	D1225G	probably damaging	Het
Mzf1	A	G	7: 12,777,197 (GRCm39)	*736Q	probably null	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ncf2	T	A	1: 152,683,784 (GRCm39)	M1K	probably null	Het
Or5t15	T	A	2: 86,681,571 (GRCm39)	H157L	probably benign	Het
Or8h10	A	C	2: 86,808,963 (GRCm39)	M59R	probably damaging	Het
Parp12	T	C	6: 39,073,574 (GRCm39)	D417G	probably benign	Het
Parp12	T	C	6: 39,088,612 (GRCm39)	H208R	probably damaging	Het
Pcif1	T	C	2: 164,727,603 (GRCm39)	I132T	probably benign	Het
Pck2	A	G	14: 55,786,041 (GRCm39)	D610G	possibly damaging	Het
Plbd1	T	C	6: 136,617,123 (GRCm39)	K185E	probably benign	Het
Ppp2r5a	T	C	1: 191,086,126 (GRCm39)	M425V	probably damaging	Het
Rapgef6	T	A	11: 54,548,231 (GRCm39)	V805D	probably damaging	Het
Rprd2	C	T	3: 95,671,059 (GRCm39)		probably benign	Het
Ryr3	A	G	2: 112,731,178 (GRCm39)	S711P	probably damaging	Het
Slc4a8	A	G	15: 100,681,668 (GRCm39)	D41G	probably benign	Het
Slc9a3	T	A	13: 74,306,937 (GRCm39)	V354E	probably damaging	Het
Spen	A	G	4: 141,196,254 (GRCm39)	I3632T	probably damaging	Het
Tesc	A	G	5: 118,192,914 (GRCm39)	S77G	probably benign	Het
Tet3	A	T	6: 83,346,297 (GRCm39)	V1245D	probably benign	Het
Tox4	T	A	14: 52,530,000 (GRCm39)	D553E	possibly damaging	Het
Tpmt	A	T	13: 47,180,759 (GRCm39)	Y193*	probably null	Het
Trio	T	C	15: 27,833,130 (GRCm39)	Y1169C	probably damaging	Het
Urb1	G	A	16: 90,569,514 (GRCm39)	T1404I	probably benign	Het
Usp47	T	C	7: 111,682,334 (GRCm39)	S540P	probably damaging	Het
Vmn1r178	A	T	7: 23,593,548 (GRCm39)	M126L	possibly damaging	Het
Vmn1r223	T	C	13: 23,434,348 (GRCm39)	F314S	probably damaging	Het
Vmn2r112	A	T	17: 22,824,097 (GRCm39)	I451L	probably benign	Het
Zfc3h1	A	G	10: 115,242,806 (GRCm39)		probably null	Het
Zfp503	A	T	14: 22,034,969 (GRCm39)	L649Q	probably damaging	Het
Zfp977	A	C	7: 42,229,530 (GRCm39)	C332G	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
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
R8867:Slc17a3	UTSW	13	24,039,943 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CAGTCACCTGAATGTCACTTGGGAAT -3'
(R):5'- CCTCCTGCCTACAAGGCACAGT -3'

Sequencing Primer
(F):5'- GAATGTCACTTGGGAATTTTAAAGGG -3'
(R):5'- acgctgctatgcttccc -3'

Posted On

2014-04-24