Mutagenetix > Incidental Mutation

Incidental Mutation 'R1757:Slc22a12'

195032

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

039789-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1757 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6585875-6593062 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to T at 6586761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077182] [ENSMUST00000113451] [ENSMUST00000113458] [ENSMUST00000113459] [ENSMUST00000113461] [ENSMUST00000113462] [ENSMUST00000137166]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000077182

SMART Domains

Protein: ENSMUSP00000076424
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
low complexity region	268	276	N/A	INTRINSIC
LamG	310	444	1.18e-33	SMART
LamG	498	651	1.51e-40	SMART
EGF	678	712	8.91e-3	SMART
LamG	737	875	4.91e-22	SMART
LamG	923	1059	1.08e-41	SMART
EGF	1084	1118	1.91e1	SMART
LamG	1146	1303	4.48e-16	SMART
low complexity region	1332	1362	N/A	INTRINSIC
low complexity region	1430	1445	N/A	INTRINSIC
4.1m	1448	1466	3.75e-4	SMART
low complexity region	1480	1499	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000113451

SMART Domains

Protein: ENSMUSP00000109078
Gene: ENSMUSG00000061742

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: ENSMUST00000113458

SMART Domains

Protein: ENSMUSP00000109085
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	268	4.48e-16	SMART
low complexity region	297	327	N/A	INTRINSIC
low complexity region	383	404	N/A	INTRINSIC
low complexity region	587	602	N/A	INTRINSIC
4.1m	605	623	3.75e-4	SMART
low complexity region	637	656	N/A	INTRINSIC

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

probably benign
Transcript: ENSMUST00000113461

SMART Domains

Protein: ENSMUSP00000109088
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
LamG	286	428	8.4e-30	SMART
LamG	482	635	1.51e-40	SMART
EGF	662	696	8.91e-3	SMART
LamG	721	850	2.36e-24	SMART
LamG	898	1034	1.08e-41	SMART
EGF	1059	1093	1.91e1	SMART
LamG	1121	1248	1.26e-19	SMART
low complexity region	1277	1307	N/A	INTRINSIC
low complexity region	1363	1384	N/A	INTRINSIC
low complexity region	1567	1582	N/A	INTRINSIC
4.1m	1585	1603	3.75e-4	SMART
low complexity region	1617	1636	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113462

SMART Domains

Protein: ENSMUSP00000109089
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
low complexity region	268	276	N/A	INTRINSIC
LamG	310	452	8.4e-30	SMART
LamG	506	659	1.51e-40	SMART
EGF	686	720	8.91e-3	SMART
LamG	745	883	4.91e-22	SMART
LamG	931	1067	1.08e-41	SMART
EGF	1092	1126	1.91e1	SMART
LamG	1154	1311	4.48e-16	SMART
low complexity region	1340	1370	N/A	INTRINSIC
low complexity region	1426	1447	N/A	INTRINSIC
low complexity region	1630	1645	N/A	INTRINSIC
4.1m	1648	1666	3.75e-4	SMART
low complexity region	1680	1699	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126142

SMART Domains

Protein: ENSMUSP00000114626
Gene: ENSMUSG00000061742

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137184

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149574

Predicted Effect

probably benign
Transcript: ENSMUST00000137166

SMART Domains

Protein: ENSMUSP00000119762
Gene: ENSMUSG00000033768

Domain	Start	End	E-Value	Type
low complexity region	8	24	N/A	INTRINSIC
LamG	49	187	1.67e-33	SMART
EGF	205	242	1.73e1	SMART
low complexity region	268	276	N/A	INTRINSIC
LamG	310	459	8.87e-29	SMART
LamG	513	666	1.51e-40	SMART
EGF	693	727	8.91e-3	SMART
LamG	752	890	4.91e-22	SMART
LamG	938	1074	1.08e-41	SMART
EGF	1099	1133	1.91e1	SMART
LamG	1161	1318	4.48e-16	SMART
low complexity region	1347	1377	N/A	INTRINSIC
low complexity region	1433	1454	N/A	INTRINSIC
low complexity region	1637	1652	N/A	INTRINSIC
4.1m	1655	1673	3.75e-4	SMART
low complexity region	1687	1706	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

100% (111/111)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,049,867 (GRCm38)	I219F	probably damaging	Het
Acvr1b	A	G	15: 101,096,703 (GRCm39)	I207V	possibly damaging	Het
Adamtsl4	T	C	3: 95,585,252 (GRCm39)	T839A	probably benign	Het
Akap1	C	T	11: 88,736,578 (GRCm39)	R61H	probably damaging	Het
Akap9	A	G	5: 4,051,667 (GRCm39)	D1478G	probably benign	Het
Aloxe3	T	A	11: 69,026,775 (GRCm39)	V547E	possibly damaging	Het
Ano6	G	A	15: 95,860,148 (GRCm39)	A757T	probably damaging	Het
Armc10	A	G	5: 21,858,455 (GRCm39)	T167A	probably damaging	Het
BB019430	A	C	10: 58,539,869 (GRCm39)		noncoding transcript	Het
Brms1	C	T	19: 5,096,435 (GRCm39)	R82W	probably damaging	Het
Btnl6	G	A	17: 34,733,062 (GRCm39)	T267I	probably benign	Het
Catsper4	A	T	4: 133,945,212 (GRCm39)	F215L	probably benign	Het
Ccdc188	T	C	16: 18,036,552 (GRCm39)	F197S	probably damaging	Het
Cers5	A	C	15: 99,634,212 (GRCm39)	C379G	probably benign	Het
Chchd6	A	G	6: 89,361,626 (GRCm39)	L259P	probably damaging	Het
Cntnap2	T	A	6: 46,736,763 (GRCm39)	C730S	probably damaging	Het
Coch	T	G	12: 51,649,631 (GRCm39)	V314G	probably damaging	Het
Cog1	T	A	11: 113,543,130 (GRCm39)	S213T	possibly damaging	Het
Crot	A	T	5: 9,037,828 (GRCm39)	F163I	probably damaging	Het
Cyp4f13	A	T	17: 33,148,932 (GRCm39)	I162N	probably damaging	Het
Dab2	A	T	15: 6,359,933 (GRCm39)		probably benign	Het
Depdc1b	C	T	13: 108,460,482 (GRCm39)	R31W	probably damaging	Het
Dlk1	T	C	12: 109,425,613 (GRCm39)	F161S	probably damaging	Het
Dnah6	T	C	6: 73,137,965 (GRCm39)	E913G	probably damaging	Het
Dnajc6	A	G	4: 101,455,028 (GRCm39)	Y5C	probably damaging	Het
Dock10	T	C	1: 80,511,586 (GRCm39)	T1508A	probably damaging	Het
Dstyk	A	G	1: 132,361,832 (GRCm39)		probably benign	Het
Efcc1	T	C	6: 87,726,265 (GRCm39)		probably benign	Het
Entpd1	T	C	19: 40,727,450 (GRCm39)	Y533H	probably benign	Het
Epha8	A	T	4: 136,658,789 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,401,402 (GRCm39)	T17M	probably damaging	Het
Ethe1	T	C	7: 24,307,899 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,386,347 (GRCm39)	M211K	probably damaging	Het
Fhod3	G	A	18: 25,199,335 (GRCm39)	V669M	possibly damaging	Het
Fktn	C	T	4: 53,747,003 (GRCm39)		probably benign	Het
Foxred1	G	A	9: 35,122,130 (GRCm39)	R20C	probably benign	Het
Gbp9	A	G	5: 105,242,319 (GRCm39)	L140P	probably damaging	Het
Gga1	T	C	15: 78,773,230 (GRCm39)	L286P	probably damaging	Het
Gml	T	C	15: 74,685,462 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,486,035 (GRCm39)	K628N	probably damaging	Het
Gtf3c4	G	A	2: 28,720,648 (GRCm39)		probably benign	Het
H2-M10.6	A	C	17: 37,124,043 (GRCm39)	Y169S	probably benign	Het
Hal	G	A	10: 93,330,490 (GRCm39)	V245I	probably benign	Het
Hebp2	T	C	10: 18,420,849 (GRCm39)	Y72C	probably damaging	Het
Helz2	T	C	2: 180,878,056 (GRCm39)	E914G	probably damaging	Het
Herc3	T	C	6: 58,893,455 (GRCm39)	Y906H	probably damaging	Het
Hfm1	A	T	5: 107,028,226 (GRCm39)		probably null	Het
Hgs	C	T	11: 120,370,889 (GRCm39)	P582S	probably damaging	Het
Hoxa10	G	A	6: 52,211,469 (GRCm39)	P149L	probably damaging	Het
Inpp5j	T	A	11: 3,454,738 (GRCm39)	Q4L	possibly damaging	Het
Ints8	A	C	4: 11,254,109 (GRCm39)	M1R	probably null	Het
Isg15	T	C	4: 156,284,447 (GRCm39)	E27G	possibly damaging	Het
Klf13	A	T	7: 63,541,513 (GRCm39)	C205S	probably damaging	Het
Lama1	A	T	17: 68,070,831 (GRCm39)	Y830F	probably benign	Het
Lama1	G	A	17: 68,004,378 (GRCm39)	V17M	unknown	Het
Lama3	A	G	18: 12,598,556 (GRCm39)	N988D	probably benign	Het
Lcat	CAT	C	8: 106,668,446 (GRCm39)		probably null	Het
Lct	G	T	1: 128,228,994 (GRCm39)	P833H	probably damaging	Het
Lmf1	A	T	17: 25,874,184 (GRCm39)	R403W	probably damaging	Het
Me3	T	G	7: 89,282,230 (GRCm39)	S38A	probably benign	Het
Myg1	A	T	15: 102,240,264 (GRCm39)	D30V	probably benign	Het
Nbea	A	G	3: 55,537,610 (GRCm39)	I2841T	possibly damaging	Het
Nek1	T	A	8: 61,542,847 (GRCm39)		probably null	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or4p23	G	T	2: 88,576,361 (GRCm39)	D290E	probably benign	Het
Or5b119	A	C	19: 13,456,971 (GRCm39)	V197G	possibly damaging	Het
Or6n2	A	T	1: 173,897,224 (GRCm39)	Y120F	probably damaging	Het
Or9m2	T	G	2: 87,820,926 (GRCm39)	I157R	probably damaging	Het
Osbpl9	A	G	4: 108,921,780 (GRCm39)	Y613H	probably damaging	Het
Per3	C	T	4: 151,127,249 (GRCm39)		probably null	Het
Pex6	G	T	17: 47,034,424 (GRCm39)	V758L	probably damaging	Het
Pikfyve	A	G	1: 65,291,707 (GRCm39)	I1309V	probably damaging	Het
Pimreg	A	G	11: 71,933,985 (GRCm39)	E37G	possibly damaging	Het
Pjvk	G	A	2: 76,486,232 (GRCm39)	V211I	probably benign	Het
Plekhg4	T	A	8: 106,108,293 (GRCm39)	V1112E	probably damaging	Het
Ptprz1	T	A	6: 23,044,319 (GRCm39)	M2106K	probably damaging	Het
Rdh16f2	G	T	10: 127,712,765 (GRCm39)	L254F	probably benign	Het
Rictor	G	A	15: 6,803,343 (GRCm39)	R485Q	possibly damaging	Het
Rnf146	G	A	10: 29,223,475 (GRCm39)	T137M	probably damaging	Het
Rrp9	T	A	9: 106,360,203 (GRCm39)	C204S	probably damaging	Het
Rxylt1	T	C	10: 121,924,920 (GRCm39)	T261A	probably benign	Het
Serpinb9h	T	C	13: 33,583,336 (GRCm39)	S150P	probably benign	Het
Shkbp1	T	C	7: 27,041,776 (GRCm39)	T693A	probably benign	Het
Skint9	A	G	4: 112,271,159 (GRCm39)	Y84H	probably benign	Het
Slfn4	T	C	11: 83,076,211 (GRCm39)	C26R	possibly damaging	Het
Snrnp200	T	C	2: 127,074,363 (GRCm39)	L1401P	probably damaging	Het
Specc1	T	A	11: 62,010,110 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Tbc1d22b	A	G	17: 29,790,647 (GRCm39)	R204G	probably damaging	Het
Tektl1	T	C	10: 78,583,058 (GRCm39)	N442S	probably benign	Het
Tgfbr3l	C	A	8: 4,299,548 (GRCm39)	D110E	probably benign	Het
Ticrr	T	G	7: 79,325,071 (GRCm39)	S532R	probably damaging	Het
Ticrr	C	A	7: 79,328,794 (GRCm39)	Y644*	probably null	Het
Traf3ip1	A	T	1: 91,450,579 (GRCm39)	T509S	probably damaging	Het
Trmt10b	T	C	4: 45,307,946 (GRCm39)	Y209H	probably damaging	Het
Trmt6	T	C	2: 132,652,157 (GRCm39)	M172V	probably damaging	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Tshz2	C	A	2: 169,725,843 (GRCm39)	F146L	probably benign	Het
Tspyl4	G	T	10: 34,173,576 (GRCm39)	E23*	probably null	Het
Ulk2	A	T	11: 61,732,165 (GRCm39)		probably benign	Het
Umodl1	A	T	17: 31,227,674 (GRCm39)	I1336F	probably damaging	Het
Vezt	T	C	10: 93,806,425 (GRCm39)	D662G	probably benign	Het
Vnn1	G	T	10: 23,776,727 (GRCm39)	Q359H	probably benign	Het
Vnn1	A	T	10: 23,776,726 (GRCm39)	Q359L	possibly damaging	Het
Zdhhc16	A	G	19: 41,930,394 (GRCm39)	N14S	probably damaging	Het
Zfp455	T	C	13: 67,355,601 (GRCm39)	S225P	probably damaging	Het
Zfp74	T	A	7: 29,634,486 (GRCm39)	E407D	probably benign	Het
Zic2	T	A	14: 122,716,031 (GRCm39)	H384Q	possibly 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
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
R8508:Slc22a12	UTSW	19	6,592,467 (GRCm39)	missense	probably benign	0.03
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'- TGACAAACGCCAGCTTGCTCAC -3'
(R):5'- CCGAATTCATTGAGCCTCCCTCAAC -3'

Sequencing Primer
(F):5'- GAGGGTTAAAATCCACCTGTTACC -3'
(R):5'- CAATTGTGCTGCCACAGGATG -3'

Posted On

2014-05-23