Mutagenetix > Incidental Mutation

Incidental Mutation 'R1643:Slc17a3'

173697

Institutional Source

Beutler Lab

Gene Symbol

Slc17a3

Ensembl Gene

ENSMUSG00000036083

Gene Name

solute carrier family 17 (sodium phosphate), member 3

Synonyms

Npt4

MMRRC Submission

039679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1643 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24023417-24044699 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 24041181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000131308 (fasta)

Gene Model

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

AlphaFold

G3UWD9

Predicted Effect

probably benign
Transcript: ENSMUST00000039721

SMART Domains

Protein: ENSMUSP00000039062
Gene: ENSMUSG00000036083

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 benign
Transcript: ENSMUST00000091698

SMART Domains

Protein: ENSMUSP00000089290
Gene: ENSMUSG00000036083

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 benign
Transcript: ENSMUST00000110422

SMART Domains

Protein: ENSMUSP00000106052
Gene: ENSMUSG00000036083

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 benign
Transcript: ENSMUST00000166467

SMART Domains

Protein: ENSMUSP00000131308
Gene: ENSMUSG00000036083

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,724,942 (GRCm39)	K45*	probably null	Het
Abcc1	T	A	16: 14,231,232 (GRCm39)	Y457N	probably damaging	Het
Actr3b	A	G	5: 26,017,009 (GRCm39)	D19G	probably damaging	Het
Adam39	T	C	8: 41,279,523 (GRCm39)	V638A	possibly damaging	Het
Adamts1	G	T	16: 85,593,705 (GRCm39)		probably benign	Het
AI661453	A	G	17: 47,778,791 (GRCm39)		probably benign	Het
Ank3	G	A	10: 69,720,632 (GRCm39)	S565N	probably benign	Het
Casd1	A	G	6: 4,621,243 (GRCm39)	E267G	probably benign	Het
Casr	T	C	16: 36,320,567 (GRCm39)	K527R	probably damaging	Het
Cep128	A	C	12: 91,292,306 (GRCm39)	S248A	probably damaging	Het
Clic4	A	G	4: 134,966,206 (GRCm39)	V50A	possibly damaging	Het
Cylc2	C	T	4: 51,225,173 (GRCm39)	A36V	probably benign	Het
Derl1	T	A	15: 57,741,955 (GRCm39)	M127L	probably benign	Het
Dnah6	A	G	6: 73,021,735 (GRCm39)	V3529A	possibly damaging	Het
Dock1	G	T	7: 134,700,508 (GRCm39)	L1089F	probably damaging	Het
Edil3	T	A	13: 89,437,695 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,589,804 (GRCm39)	T134S	probably benign	Het
Ephb1	A	G	9: 101,874,024 (GRCm39)	V550A	probably damaging	Het
Fcho2	G	A	13: 98,921,324 (GRCm39)	T187I	probably benign	Het
Gas6	T	C	8: 13,515,902 (GRCm39)		probably null	Het
Gdf7	T	C	12: 8,347,971 (GRCm39)	Y442C	probably damaging	Het
Gm11567	G	A	11: 99,770,623 (GRCm39)	G187E	unknown	Het
Gm8674	T	C	13: 50,055,394 (GRCm39)		noncoding transcript	Het
Ift80	T	A	3: 68,823,490 (GRCm39)	I591F	probably benign	Het
Kcnn3	C	T	3: 89,427,804 (GRCm39)	S10L	unknown	Het
Keg1	A	G	19: 12,696,406 (GRCm39)	I197V	probably benign	Het
Klhdc9	A	G	1: 171,187,034 (GRCm39)		probably null	Het
Klhl11	A	G	11: 100,353,841 (GRCm39)	V660A	probably benign	Het
Lamc1	T	C	1: 153,133,818 (GRCm39)		probably benign	Het
Lrrc73	G	T	17: 46,566,266 (GRCm39)		probably null	Het
Lrriq1	G	A	10: 103,050,685 (GRCm39)	S689L	probably benign	Het
Magi2	A	G	5: 20,910,504 (GRCm39)		probably benign	Het
Meis1	A	G	11: 18,966,278 (GRCm39)	S32P	probably benign	Het
Mia2	A	G	12: 59,226,631 (GRCm39)		probably null	Het
Mlph	T	C	1: 90,869,456 (GRCm39)	L486P	probably damaging	Het
Myh10	A	G	11: 68,682,836 (GRCm39)	E1090G	probably damaging	Het
Mylk	T	C	16: 34,696,005 (GRCm39)	S247P	probably benign	Het
Naip2	C	T	13: 100,298,489 (GRCm39)	A516T	possibly damaging	Het
Ndufc1	T	C	3: 51,315,664 (GRCm39)	T25A	probably benign	Het
Nedd4l	A	G	18: 65,331,712 (GRCm39)	Y636C	probably damaging	Het
Nfib	A	T	4: 82,416,916 (GRCm39)	Y40N	probably damaging	Het
Niban3	A	G	8: 72,052,808 (GRCm39)	D94G	probably benign	Het
Nisch	T	C	14: 30,895,125 (GRCm39)	D1057G	probably damaging	Het
P3h2	T	C	16: 25,791,041 (GRCm39)	H475R	probably benign	Het
Pde6c	C	A	19: 38,150,406 (GRCm39)	T517K	possibly damaging	Het
Piezo2	T	C	18: 63,215,986 (GRCm39)	I994V	probably benign	Het
Pik3r4	A	G	9: 105,564,351 (GRCm39)	D1315G	possibly damaging	Het
Pip5k1c	T	G	10: 81,150,828 (GRCm39)	V46G	probably damaging	Het
Pole	A	G	5: 110,465,711 (GRCm39)	E1213G	probably damaging	Het
Prl7d1	T	C	13: 27,896,114 (GRCm39)	S88G	possibly damaging	Het
Prodh	T	A	16: 17,898,933 (GRCm39)	N72I	probably benign	Het
Prrc2a	G	A	17: 35,375,930 (GRCm39)	R907C	probably damaging	Het
Ptger2	T	A	14: 45,226,423 (GRCm39)	M1K	probably null	Het
Samd4b	G	C	7: 28,123,041 (GRCm39)	Q6E	probably damaging	Het
Sec24a	C	T	11: 51,595,212 (GRCm39)	R916H	probably benign	Het
Slc12a5	C	A	2: 164,835,947 (GRCm39)	D865E	probably benign	Het
Ssrp1	T	C	2: 84,871,529 (GRCm39)	V317A	possibly damaging	Het
Stim1	A	G	7: 102,035,307 (GRCm39)	D95G	possibly damaging	Het
Taok2	A	T	7: 126,475,110 (GRCm39)		probably benign	Het
Tcof1	T	G	18: 60,949,300 (GRCm39)	K1205T	possibly damaging	Het
Trim43c	C	T	9: 88,729,530 (GRCm39)	R325C	probably damaging	Het
Trub2	T	G	2: 29,667,948 (GRCm39)	T231P	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Uty	T	A	Y: 1,152,054 (GRCm39)	D724V	probably damaging	Het
Vmn2r98	A	G	17: 19,301,170 (GRCm39)	D724G	probably damaging	Het
Wdfy3	A	G	5: 102,023,781 (GRCm39)	I2442T	possibly damaging	Het
Wdfy4	T	C	14: 32,795,542 (GRCm39)		probably null	Het
Zfp280b	A	G	10: 75,875,444 (GRCm39)	H441R	probably damaging	Het
Zfp60	A	T	7: 27,436,400 (GRCm39)	Q7L	probably damaging	Het
Zzef1	T	C	11: 72,717,028 (GRCm39)	L406S	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
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'- TGCATGGTCCACGTCCTTTTGG -3'
(R):5'- AGATGGCTTGGCAGGAAACATTCTC -3'

Sequencing Primer
(F):5'- TGTTACCCACAGGTATGCCA -3'
(R):5'- TTGGCAGGAAACATTCTCCTGAG -3'

Posted On

2014-04-24