Mutagenetix > Incidental Mutation

Incidental Mutation 'R8508:Slc22a12'

655732

Institutional Source

Beutler Lab

Gene Symbol

Slc22a12

Ensembl Gene

ENSMUSG00000061742

Gene Name

solute carrier family 22 (organic anion/cation transporter), member 12

Synonyms

Rst, URAT1

MMRRC Submission

067844-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8508 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6585875-6593062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6592467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 106 (T106A)

Ref Sequence

ENSEMBL: ENSMUSP00000109078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113451] [ENSMUST00000113459]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000113451
AA Change: T106A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000109078
Gene: ENSMUSG00000061742
AA Change: T106A

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	95	525	2e-26	PFAM
Pfam:MFS_1	128	484	7.5e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113459

SMART Domains

Protein: ENSMUSP00000109086
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
signal peptide	1	46	N/A	INTRINSIC
low complexity region	49	69	N/A	INTRINSIC
LamG	111	238	1.26e-19	SMART
low complexity region	267	297	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126142
AA Change: T92A

PolyPhen 2 Score 0.766 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114626
Gene: ENSMUSG00000061742
AA Change: T92A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
transmembrane domain	229	248	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

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 member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a null allele exhibit increased urinary urate levels and altered urine and plasma metabolite composition. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	G	16: 90,852,500 (GRCm39)	Y212S	probably damaging	Het
Angpt1	T	C	15: 42,375,795 (GRCm39)	N154D	probably damaging	Het
Angpt2	G	A	8: 18,791,135 (GRCm39)	R54*	probably null	Het
Ankrd27	T	A	7: 35,301,051 (GRCm39)	L117*	probably null	Het
Arhgap21	C	T	2: 20,858,991 (GRCm39)	M1234I	probably benign	Het
Arhgef33	A	G	17: 80,674,764 (GRCm39)	E387G	probably damaging	Het
Atp13a4	T	A	16: 29,273,587 (GRCm39)	K444*	probably null	Het
Atp6v1a	G	A	16: 43,922,225 (GRCm39)	R338C	probably damaging	Het
Canx	T	C	11: 50,202,474 (GRCm39)	D44G	possibly damaging	Het
Ccdc141	T	A	2: 76,962,588 (GRCm39)	M119L	probably benign	Het
Ckmt1	A	C	2: 121,193,172 (GRCm39)	Q299P	possibly damaging	Het
Dhx16	T	C	17: 36,196,812 (GRCm39)	S601P	probably damaging	Het
Dna2	A	C	10: 62,786,673 (GRCm39)	R140S	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Eif1ad10	T	G	12: 88,216,455 (GRCm39)	E139A	unknown	Het
Eogt	A	G	6: 97,120,959 (GRCm39)	S85P	possibly damaging	Het
Fbf1	A	T	11: 116,056,707 (GRCm39)	M1K	probably null	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Flnb	G	A	14: 7,950,394 (GRCm38)	V2571I	probably damaging	Het
Gm43518	A	G	5: 124,076,322 (GRCm39)	E123G	unknown	Het
Gpatch2	A	G	1: 187,036,552 (GRCm39)	N374S	probably benign	Het
Hey1	G	C	3: 8,729,836 (GRCm39)	A207G	probably benign	Het
Hoxa11	T	C	6: 52,222,782 (GRCm39)		probably benign	Het
Hydin	G	A	8: 111,308,650 (GRCm39)	V3979I	probably benign	Het
Ighe	C	T	12: 113,235,413 (GRCm39)	W277*	probably null	Het
Kmt2c	G	T	5: 25,519,120 (GRCm39)	T2330K	probably benign	Het
Krt6a	T	A	15: 101,601,170 (GRCm39)	K261M	probably damaging	Het
Lats2	A	C	14: 57,960,162 (GRCm39)	S161A	probably benign	Het
Med13l	T	A	5: 118,892,386 (GRCm39)	D1936E	probably benign	Het
Mipol1	T	C	12: 57,352,874 (GRCm39)	V71A	possibly damaging	Het
Mphosph8	A	T	14: 56,914,003 (GRCm39)	K415*	probably null	Het
Npepps	A	G	11: 97,135,252 (GRCm39)		probably null	Het
Ntn4	A	T	10: 93,576,966 (GRCm39)	N545Y	possibly damaging	Het
Or11g1	A	C	14: 50,651,132 (GRCm39)	M44L	probably benign	Het
Or1n1b	A	G	2: 36,780,366 (GRCm39)	S165P	probably damaging	Het
Or2m12	T	C	16: 19,105,451 (GRCm39)	D14G	probably benign	Het
Or9i2	A	T	19: 13,815,766 (GRCm39)	M257K	possibly damaging	Het
Osbpl2	T	A	2: 179,797,136 (GRCm39)	V358E	possibly damaging	Het
Pdcd11	C	A	19: 47,108,245 (GRCm39)	P1204Q	probably damaging	Het
Pnliprp2	A	C	19: 58,751,806 (GRCm39)	S184R	probably damaging	Het
Ppm1g	G	T	5: 31,361,872 (GRCm39)	R373S	probably damaging	Het
Rnf130	A	G	11: 49,978,264 (GRCm39)	D275G	probably damaging	Het
Rps18-ps5	A	G	13: 28,441,694 (GRCm39)	I26V	probably benign	Het
Setd5	T	C	6: 113,098,048 (GRCm39)	S696P	probably damaging	Het
Sgip1	A	G	4: 102,772,268 (GRCm39)	Q219R	probably benign	Het
Slc1a2	T	C	2: 102,566,430 (GRCm39)		probably null	Het
Slc22a14	A	G	9: 119,009,651 (GRCm39)	L148P	probably damaging	Het
Slc2a9	A	T	5: 38,539,421 (GRCm39)	F375I	probably damaging	Het
Sorbs3	A	T	14: 70,440,396 (GRCm39)	D117E	probably benign	Het
Spata31d1e	A	G	13: 59,891,412 (GRCm39)	L136P	probably benign	Het
Sphkap	G	A	1: 83,254,221 (GRCm39)	T1176I	probably damaging	Het
Supt16	A	T	14: 52,419,046 (GRCm39)	V193D	probably damaging	Het
Sytl3	A	G	17: 6,995,690 (GRCm39)	T362A	probably damaging	Het
Tctn1	T	A	5: 122,384,674 (GRCm39)	Q410L	probably benign	Het
Trbc2	T	C	6: 41,524,711 (GRCm39)	Y133H		Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn2r120	A	G	17: 57,832,843 (GRCm39)	V112A	probably benign	Het
Zfp354b	A	T	11: 50,814,297 (GRCm39)	S209R	probably benign	Het
Zfp362	T	C	4: 128,668,399 (GRCm39)	H391R	probably damaging	Het

Other mutations in Slc22a12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02033:Slc22a12	APN	19	6,587,844 (GRCm39)	missense	probably benign	0.19
IGL02586:Slc22a12	APN	19	6,590,487 (GRCm39)	missense	probably benign	0.03
mutual	UTSW	19	6,592,683 (GRCm39)	nonsense	probably null
reinforcement	UTSW	19	6,587,199 (GRCm39)	missense	probably benign	0.03
R1353:Slc22a12	UTSW	19	6,587,812 (GRCm39)	missense	possibly damaging	0.66
R1757:Slc22a12	UTSW	19	6,586,761 (GRCm39)	splice site	probably null
R1816:Slc22a12	UTSW	19	6,592,683 (GRCm39)	nonsense	probably null
R2254:Slc22a12	UTSW	19	6,592,571 (GRCm39)	missense	possibly damaging	0.86
R4110:Slc22a12	UTSW	19	6,590,658 (GRCm39)	missense	probably damaging	1.00
R4125:Slc22a12	UTSW	19	6,588,818 (GRCm39)	missense	probably damaging	0.99
R4342:Slc22a12	UTSW	19	6,591,129 (GRCm39)	missense	probably benign	0.15
R4762:Slc22a12	UTSW	19	6,588,474 (GRCm39)	missense	probably benign	0.02
R4927:Slc22a12	UTSW	19	6,587,791 (GRCm39)	missense	probably benign	0.23
R5690:Slc22a12	UTSW	19	6,586,878 (GRCm39)	missense	probably benign	0.00
R5772:Slc22a12	UTSW	19	6,590,479 (GRCm39)	missense	possibly damaging	0.67
R5946:Slc22a12	UTSW	19	6,587,881 (GRCm39)	missense	probably damaging	1.00
R6137:Slc22a12	UTSW	19	6,592,754 (GRCm39)	missense	probably benign	0.07
R7740:Slc22a12	UTSW	19	6,587,199 (GRCm39)	missense	probably benign	0.03
R7978:Slc22a12	UTSW	19	6,586,938 (GRCm39)	missense	possibly damaging	0.84
R8028:Slc22a12	UTSW	19	6,588,469 (GRCm39)	missense	probably benign	0.15
R8992:Slc22a12	UTSW	19	6,592,514 (GRCm39)	missense	possibly damaging	0.62
R9559:Slc22a12	UTSW	19	6,587,686 (GRCm39)	missense	probably damaging	1.00
R9644:Slc22a12	UTSW	19	6,587,673 (GRCm39)	missense	probably damaging	0.99
R9716:Slc22a12	UTSW	19	6,586,765 (GRCm39)	critical splice donor site	probably null
X0062:Slc22a12	UTSW	19	6,587,157 (GRCm39)	missense	probably damaging	1.00
Z1088:Slc22a12	UTSW	19	6,588,493 (GRCm39)	missense	possibly damaging	0.54
Z1177:Slc22a12	UTSW	19	6,590,431 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGACCTTGCAGATGACTCCC -3'
(R):5'- GAACTTCTCAGCCGCAGTTC -3'

Sequencing Primer
(F):5'- GTCCCCTGCAAGCCTACATG -3'
(R):5'- AGTTCCCCACCACCGCTG -3'

Posted On

2020-10-20