Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Slc22a12'

488433

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

044284-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6137 (G1)

Quality Score

188.009

Status

Validated

Chromosome

Chromosomal Location

6585875-6593062 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6592754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 10 (V10A)

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: V10A

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109078
Gene: ENSMUSG00000061742
AA Change: V10A

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

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: ENSMUST00000153483

Meta Mutation Damage Score

0.3577

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

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
2310057M21Rik	G	T	7: 130,959,342 (GRCm39)	H165Q	probably damaging	Het
Akap13	T	A	7: 75,327,164 (GRCm39)	F721Y	probably damaging	Het
Akap6	A	T	12: 53,187,137 (GRCm39)	D1517V	probably damaging	Het
Amigo3	T	A	9: 107,930,927 (GRCm39)	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,019,275 (GRCm39)	N34K	probably damaging	Het
Cacnb1	A	C	11: 97,896,608 (GRCm39)	V351G	probably damaging	Het
Casp9	T	A	4: 141,532,660 (GRCm39)		probably null	Het
Ccdc51	C	T	9: 108,918,483 (GRCm39)	T24I	probably benign	Het
Cdh23	T	A	10: 60,270,291 (GRCm39)	Y618F	probably damaging	Het
Chd1	T	A	17: 15,978,950 (GRCm39)	W1271R	probably damaging	Het
Dars1	T	C	1: 128,296,176 (GRCm39)	T386A	probably benign	Het
Dchs1	T	A	7: 105,414,313 (GRCm39)	D834V	probably damaging	Het
Dgkd	T	A	1: 87,864,103 (GRCm39)	V933E	possibly damaging	Het
Dnah17	A	G	11: 117,916,480 (GRCm39)	F4203S	probably damaging	Het
Fancm	T	C	12: 65,177,156 (GRCm39)	L2000P	probably damaging	Het
Fbxo11	A	T	17: 88,316,097 (GRCm39)	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,105,290 (GRCm39)	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,431,055 (GRCm39)	S237P	probably damaging	Het
Frem3	T	C	8: 81,341,676 (GRCm39)	I1323T	probably benign	Het
Grin2a	A	G	16: 9,471,313 (GRCm39)	F652L	probably benign	Het
Grin2b	T	A	6: 135,900,456 (GRCm39)	M142L	possibly damaging	Het
Helz	A	G	11: 107,509,886 (GRCm39)	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,822,915 (GRCm39)	Y69H	probably benign	Het
Il17ra	A	G	6: 120,452,543 (GRCm39)	N242S	probably benign	Het
Immp1l	G	C	2: 105,794,553 (GRCm39)	G117A	probably damaging	Het
Itm2c	T	C	1: 85,822,413 (GRCm39)	V10A	probably benign	Het
Kif1b	T	C	4: 149,322,883 (GRCm39)	K679E	possibly damaging	Het
Kng1	T	C	16: 22,893,395 (GRCm39)	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,041,899 (GRCm39)	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,587,232 (GRCm39)	F621S	probably damaging	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lypd3	T	C	7: 24,339,919 (GRCm39)	Y329H	probably benign	Het
Mettl13	T	C	1: 162,363,455 (GRCm39)	D225G	probably benign	Het
Myo7b	A	G	18: 32,133,027 (GRCm39)	F441L	probably damaging	Het
Nnt	T	A	13: 119,472,864 (GRCm39)	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,022,196 (GRCm39)	M144K	probably damaging	Het
Or2t46	A	T	11: 58,471,894 (GRCm39)	M75L	probably benign	Het
Or5al6	A	G	2: 85,976,313 (GRCm39)	V255A	probably benign	Het
Or6z6	T	C	7: 6,491,844 (GRCm39)	T3A	probably benign	Het
Pappa2	A	T	1: 158,699,113 (GRCm39)	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,285,674 (GRCm39)	I155V	probably benign	Het
Ptgs2	T	A	1: 149,976,744 (GRCm39)	N24K	probably benign	Het
Ralgds	A	T	2: 28,437,600 (GRCm39)	M514L	probably damaging	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,398,070 (GRCm39)	V254D	probably damaging	Het
Selenot	A	T	3: 58,492,705 (GRCm39)	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,741,677 (GRCm39)	R1037W	probably damaging	Het
Spem2	G	T	11: 69,707,522 (GRCm39)	S481*	probably null	Het
Styk1	C	T	6: 131,287,979 (GRCm39)	G128D	probably damaging	Het
Tex54	A	T	19: 8,718,148 (GRCm39)	D6V	probably damaging	Het
Tmc6	A	T	11: 117,667,154 (GRCm39)	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,552,199 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,555,267 (GRCm39)	V772A	probably benign	Het
Topaz1	T	C	9: 122,626,821 (GRCm39)	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,192,699 (GRCm39)	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262 (GRCm39)	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,996,882 (GRCm39)	I129T	probably benign	Het
Wwc2	A	T	8: 48,309,298 (GRCm39)	M828K	unknown	Het
Zfp236	A	T	18: 82,689,919 (GRCm39)	S187T	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
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'- GAAGAACATCGGGTCCAAGGTC -3'
(R):5'- GTTCCAGGTCTCATGGTGAC -3'

Sequencing Primer
(F):5'- TCCCCAGGGATACTCGC -3'
(R):5'- TACACAAGAGCCTTGACTGG -3'

Posted On

2017-10-10