Mutagenetix > Incidental Mutation

Incidental Mutation 'R9716:Slc22a12'

730498

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6585875-6593062 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 6586765 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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 25,204,274 (GRCm39)	K178I	possibly damaging	Het
Adarb1	T	A	10: 77,131,539 (GRCm39)	H650L	possibly damaging	Het
Alms1	G	T	6: 85,578,234 (GRCm39)	L187F	possibly damaging	Het
Ano3	T	A	2: 110,601,376 (GRCm39)	N294I	probably damaging	Het
Asb3	T	A	11: 31,031,460 (GRCm39)	M360K	probably benign	Het
Atp6v0d2	T	C	4: 19,890,834 (GRCm39)	I109V	probably benign	Het
C9	A	T	15: 6,526,430 (GRCm39)		probably null	Het
Calcr	A	T	6: 3,687,468 (GRCm39)	I510N	probably benign	Het
Cdc5l	G	A	17: 45,744,500 (GRCm39)		probably benign	Het
Cdca3	T	A	6: 124,809,172 (GRCm39)	I104N	probably benign	Het
Chpt1	C	T	10: 88,339,446 (GRCm39)		probably null	Het
Chrna5	A	G	9: 54,911,919 (GRCm39)	I240V	probably benign	Het
Dhx29	T	C	13: 113,081,612 (GRCm39)	V412A	possibly damaging	Het
Dnah11	T	A	12: 118,024,148 (GRCm39)	M1868L	probably damaging	Het
Dock6	A	G	9: 21,742,418 (GRCm39)	V269A	probably benign	Het
Eif4b	T	C	15: 101,990,443 (GRCm39)	S16P	probably benign	Het
Eppk1	G	A	15: 75,994,526 (GRCm39)	T785I	probably benign	Het
Ezh2	T	C	6: 47,531,141 (GRCm39)	Y181C	possibly damaging	Het
Fem1c	T	C	18: 46,657,561 (GRCm39)	Y51C	probably damaging	Het
Garin5a	A	T	7: 44,150,405 (GRCm39)	E199V	probably damaging	Het
Glt8d2	T	C	10: 82,496,644 (GRCm39)	N138S	probably damaging	Het
Gltp	A	G	5: 114,808,470 (GRCm39)	*210Q	probably null	Het
Gm10318	T	A	10: 77,689,102 (GRCm39)	V123D	unknown	Het
Gm5134	C	T	10: 75,821,943 (GRCm39)	T259I	probably benign	Het
Gm6526	T	A	14: 43,988,309 (GRCm39)	C187S	probably benign	Het
Golga2	T	A	2: 32,189,287 (GRCm39)	S273T	probably damaging	Het
Gulo	T	C	14: 66,234,348 (GRCm39)	E238G	probably benign	Het
Htt	G	A	5: 35,012,019 (GRCm39)	V1565M	probably damaging	Het
Inpp5d	A	T	1: 87,625,191 (GRCm39)	D457V	possibly damaging	Het
Itpk1	C	T	12: 102,572,347 (GRCm39)		probably null	Het
Kif20a	T	C	18: 34,762,228 (GRCm39)	C414R	possibly damaging	Het
Klra3	T	C	6: 130,300,602 (GRCm39)	I256V	probably damaging	Het
Klrb1a	T	C	6: 128,597,239 (GRCm39)	T60A	probably benign	Het
Kmt2d	T	C	15: 98,741,283 (GRCm39)	K4592E	unknown	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Lhcgr	A	G	17: 89,050,446 (GRCm39)	I360T	probably damaging	Het
Lmod2	G	A	6: 24,604,182 (GRCm39)	V386I	possibly damaging	Het
Med29	T	C	7: 28,086,308 (GRCm39)	I167V	possibly damaging	Het
Mis18bp1	T	A	12: 65,205,337 (GRCm39)		probably benign	Het
Mtus2	A	G	5: 148,013,464 (GRCm39)	K86E	possibly damaging	Het
Ndst4	T	A	3: 125,232,211 (GRCm39)	L260Q	probably damaging	Het
Neurod2	T	C	11: 98,218,444 (GRCm39)	Y240C	probably damaging	Het
Nsd1	T	C	13: 55,458,313 (GRCm39)	V2142A	possibly damaging	Het
Or10ag55-ps1	T	A	2: 87,115,491 (GRCm39)	S286T	probably damaging	Het
Or10c1	G	T	17: 37,522,355 (GRCm39)	R130S	possibly damaging	Het
Or1q1	C	T	2: 36,887,290 (GRCm39)	A156V	probably damaging	Het
Or6p1	T	A	1: 174,258,641 (GRCm39)	S216T	probably benign	Het
Pcm1	T	A	8: 41,728,168 (GRCm39)	S542T	probably damaging	Het
Pde7a	C	T	3: 19,285,167 (GRCm39)	G340D	probably benign	Het
Phkb	T	G	8: 86,604,798 (GRCm39)	C68G	probably null	Het
Ppif	A	G	14: 25,695,921 (GRCm39)	T73A	possibly damaging	Het
Prkacb	T	C	3: 146,463,475 (GRCm39)	E79G	probably damaging	Het
Ptprz1	G	T	6: 22,959,650 (GRCm39)	W49L	probably damaging	Het
Ring1	T	C	17: 34,240,420 (GRCm39)	E386G	possibly damaging	Het
Rp1	A	G	1: 4,212,833 (GRCm39)		probably null	Het
Rrm2	T	C	12: 24,760,446 (GRCm39)	Y177H	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGAGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Scn4b	T	A	9: 45,060,639 (GRCm39)	I180N	probably damaging	Het
Spa17	C	T	9: 37,518,921 (GRCm39)	A73T	probably damaging	Het
Ssh3	C	T	19: 4,312,437 (GRCm39)	R636Q	probably benign	Het
Sugp2	C	A	8: 70,712,370 (GRCm39)	T995K	probably damaging	Het
Sumo3	T	A	10: 77,442,792 (GRCm39)	V4E	unknown	Het
Svil	C	A	18: 5,062,370 (GRCm39)	Q810K	probably damaging	Het
Tbr1	C	T	2: 61,635,077 (GRCm39)	P9L	probably benign	Het
Tmem26	C	T	10: 68,576,790 (GRCm39)	P78L	probably damaging	Het
Ttll9	A	G	2: 152,818,136 (GRCm39)	H42R	probably benign	Het
Usb1	T	C	8: 96,070,685 (GRCm39)	Y204H	probably damaging	Het
Vcpip1	A	G	1: 9,815,948 (GRCm39)	Y812H	probably benign	Het
Vmn2r15	T	C	5: 109,445,224 (GRCm39)	R67G	possibly damaging	Het
Wdr64	A	T	1: 175,622,658 (GRCm39)	I802L	probably benign	Het
Xndc1	T	C	7: 101,725,114 (GRCm39)	S100P	probably damaging	Het
Xpot	T	C	10: 121,447,392 (GRCm39)	I128V	probably benign	Het
Xrn1	C	T	9: 95,927,632 (GRCm39)	S1472F	possibly damaging	Het
Zscan12	A	T	13: 21,547,938 (GRCm39)	Y40F	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
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
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
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'- TCCACTCTCCTGATGTGTGGTG -3'
(R):5'- GTGACTCACAGGCAATTGTGC -3'

Sequencing Primer
(F):5'- GTGTAACTCTGGTCCATGCTAGC -3'
(R):5'- TGTGCTGCCACAGGATGAC -3'

Posted On

2022-10-06