Mutagenetix > Incidental Mutation

Incidental Mutation 'R4342:Slc22a12'

324209

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

041100-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4342 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

6585875-6593062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6591129 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 156 (I156T)

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: I156T

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109078
Gene: ENSMUSG00000061742
AA Change: I156T

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

unknown
Transcript: ENSMUST00000126142
AA Change: I142T

SMART Domains

Protein: ENSMUSP00000114626
Gene: ENSMUSG00000061742
AA Change: I142T

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: ENSMUST00000153483

Meta Mutation Damage Score

0.1345

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (68/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	C	17: 45,827,421 (GRCm39)	C488R	probably benign	Het
Adamts19	A	T	18: 59,075,572 (GRCm39)	H489L	probably damaging	Het
Ahnak	T	C	19: 8,989,447 (GRCm39)	V3577A	possibly damaging	Het
Ajm1	A	G	2: 25,469,120 (GRCm39)	Y264H	possibly damaging	Het
Arhgap44	G	A	11: 64,902,887 (GRCm39)	R401*	probably null	Het
Cbx3-ps2	T	C	13: 65,707,502 (GRCm39)		noncoding transcript	Het
Ccdc174	T	A	6: 91,862,337 (GRCm39)	L86*	probably null	Het
Cd38	A	C	5: 44,026,431 (GRCm39)	I72L	probably benign	Het
Cers4	T	C	8: 4,571,223 (GRCm39)	L264P	probably damaging	Het
Cldn23	A	G	8: 36,292,652 (GRCm39)	S279P	probably benign	Het
Cth	T	A	3: 157,630,613 (GRCm39)	T19S	probably damaging	Het
Dnajc22	T	A	15: 99,002,345 (GRCm39)	L330*	probably null	Het
Epas1	G	A	17: 87,131,228 (GRCm39)	C336Y	probably damaging	Het
Evi5l	A	C	8: 4,233,492 (GRCm39)		probably benign	Het
Fbxl2	A	T	9: 113,814,374 (GRCm39)	H272Q	probably benign	Het
Fgd3	C	T	13: 49,427,185 (GRCm39)		probably null	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Fscn1	T	C	5: 142,957,776 (GRCm39)	Y308H	probably damaging	Het
Garin3	A	G	11: 46,298,043 (GRCm39)	D449G	possibly damaging	Het
Gm5878	G	A	6: 85,102,633 (GRCm39)	R31*	probably null	Het
Gpatch2l	T	C	12: 86,307,453 (GRCm39)	V277A	probably benign	Het
Greb1l	T	A	18: 10,544,561 (GRCm39)	M1385K	probably benign	Het
Grin2a	A	G	16: 9,471,453 (GRCm39)	I605T	possibly damaging	Het
Hoxc11	C	T	15: 102,863,106 (GRCm39)	S49F	probably damaging	Het
Igf2r	C	T	17: 12,928,398 (GRCm39)	E982K	possibly damaging	Het
Ighv10-3	A	T	12: 114,487,124 (GRCm39)	M99K	possibly damaging	Het
Itgb4	A	T	11: 115,879,555 (GRCm39)	T614S	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Mast4	A	G	13: 102,910,756 (GRCm39)	V461A	probably damaging	Het
Mcts2	G	A	2: 152,529,584 (GRCm39)	V132M	probably damaging	Het
Mical3	C	A	6: 120,911,799 (GRCm39)	E1083*	probably null	Het
Nbeal2	A	G	9: 110,460,861 (GRCm39)		probably benign	Het
Nek4	T	C	14: 30,675,863 (GRCm39)	V66A	probably damaging	Het
Nfasc	A	G	1: 132,559,443 (GRCm39)	F229S	probably damaging	Het
Nhsl1	T	C	10: 18,402,437 (GRCm39)	F1221S	probably damaging	Het
Nr1d1	T	G	11: 98,662,640 (GRCm39)	K118Q	probably damaging	Het
Ntaq1	T	C	15: 58,016,110 (GRCm39)	S120P	probably benign	Het
Ntm	T	C	9: 29,020,727 (GRCm39)	E164G	probably damaging	Het
Or51a7	A	G	7: 102,615,231 (GRCm39)	N308S	probably benign	Het
Parp1	G	T	1: 180,414,894 (GRCm39)	A411S	probably benign	Het
Pds5b	A	G	5: 150,724,319 (GRCm39)	T1301A	probably benign	Het
Pkhd1	A	G	1: 20,128,841 (GRCm39)	V3954A	probably benign	Het
Pkp4	A	T	2: 59,180,952 (GRCm39)	K739I	probably damaging	Het
Pla2g4e	T	C	2: 120,016,927 (GRCm39)		probably benign	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Ralgds	T	C	2: 28,442,107 (GRCm39)	L96P	probably damaging	Het
Rbm6	A	T	9: 107,724,446 (GRCm39)		probably benign	Het
Scp2d1	T	C	2: 144,666,087 (GRCm39)	L142P	probably damaging	Het
Setd5	AT	ATT	6: 113,088,281 (GRCm39)		probably benign	Het
Sgf29	G	A	7: 126,270,949 (GRCm39)	C143Y	probably damaging	Het
Stambpl1	A	G	19: 34,211,446 (GRCm39)	Q169R	probably benign	Het
Tex2	T	C	11: 106,457,832 (GRCm39)		probably benign	Het
Trip11	A	T	12: 101,850,575 (GRCm39)	I878N	probably damaging	Het
Ttf1	C	T	2: 28,955,488 (GRCm39)	S284L	probably benign	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ugt2b5	A	T	5: 87,287,582 (GRCm39)	V195E	probably damaging	Het
Vmn1r14	T	A	6: 57,210,808 (GRCm39)	Y85N	probably benign	Het
Zfp131	C	T	13: 120,237,554 (GRCm39)	R268H	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
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'- GCGTTAGCAAGTGAATTCCC -3'
(R):5'- ACGCAGTATAGGGCTGACAG -3'

Sequencing Primer
(F):5'- AGTGAATTCCCCCTTAGCAGAGG -3'
(R):5'- CAGTATAGGGCTGACAGGATACTCC -3'

Posted On

2015-06-24