Mutagenetix > Incidental Mutation

Incidental Mutation 'R9074:Slc22a8'

689710

Institutional Source

Beutler Lab

Gene Symbol

Slc22a8

Ensembl Gene

ENSMUSG00000063796

Gene Name

solute carrier family 22 (organic anion transporter), member 8

Synonyms

OAT3, mOat3, Roct

MMRRC Submission

068895-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9074 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

8568618-8589199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8587025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 406 (E406G)

Ref Sequence

ENSEMBL: ENSMUSP00000010251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010251] [ENSMUST00000170817]

AlphaFold

O88909

Predicted Effect

possibly damaging
Transcript: ENSMUST00000010251
AA Change: E406G

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: E406G

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:Sugar_tr	73	506	6.8e-33	PFAM
Pfam:MFS_1	97	461	6.7e-29	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170817
AA Change: E406G

PolyPhen 2 Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: E406G

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
Pfam:Sugar_tr	78	507	6.7e-34	PFAM
Pfam:MFS_1	97	461	6.8e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

98% (63/64)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and appears to be localized to the basolateral membrane of the kidney. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit decreased urinary urate levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg5	A	T	17: 84,972,257 (GRCm39)		silent	Het
Ackr2	T	A	9: 121,737,729 (GRCm39)	C35S	probably damaging	Het
Adcy8	T	A	15: 64,573,940 (GRCm39)	K1054N	probably damaging	Het
Adgrf1	A	T	17: 43,601,879 (GRCm39)		probably benign	Het
Akap9	T	A	5: 4,127,959 (GRCm39)	I3765K	probably benign	Het
Brwd1	A	T	16: 95,824,610 (GRCm39)	F1219I		Het
Btc	A	T	5: 91,508,603 (GRCm39)		probably null	Het
Cd163	C	T	6: 124,285,947 (GRCm39)	R166*	probably null	Het
Cfap52	G	A	11: 67,822,656 (GRCm39)	S405L	probably benign	Het
Clcn2	A	G	16: 20,531,414 (GRCm39)	L210P	possibly damaging	Het
Creb3l3	T	A	10: 80,924,452 (GRCm39)		probably null	Het
Csn1s2a	A	T	5: 87,934,458 (GRCm39)	I144F	probably benign	Het
Dedd	G	T	1: 171,167,888 (GRCm39)		probably benign	Het
Eef2k	C	T	7: 120,491,124 (GRCm39)	R537C	probably damaging	Het
Epas1	A	T	17: 87,135,267 (GRCm39)	R633S	probably benign	Het
Fmn2	C	A	1: 174,436,198 (GRCm39)	T723N	unknown	Het
Frmd4a	G	T	2: 4,608,765 (GRCm39)	G878W	probably damaging	Het
Ggcx	T	G	6: 72,402,924 (GRCm39)	F294C	probably damaging	Het
Ghr	G	A	15: 3,370,470 (GRCm39)	P132S	possibly damaging	Het
Gm15446	A	T	5: 110,091,299 (GRCm39)	H517L	probably damaging	Het
Gm5862	T	C	5: 26,226,624 (GRCm39)	T93A	probably damaging	Het
Gnb1l	T	A	16: 18,359,745 (GRCm39)	I50N	probably damaging	Het
Greb1l	A	G	18: 10,532,797 (GRCm39)	Y897C	probably damaging	Het
Greb1l	T	C	18: 10,558,795 (GRCm39)	C1817R	probably damaging	Het
Ier5	C	A	1: 154,974,275 (GRCm39)	W301L	probably damaging	Het
Irf2bp2	A	G	8: 127,318,456 (GRCm39)	L370P	probably benign	Het
Itga9	T	A	9: 118,636,344 (GRCm39)	N677K	probably damaging	Het
Itgb7	G	T	15: 102,132,797 (GRCm39)	R172S		Het
Kdm6b	A	T	11: 69,292,977 (GRCm39)	C1266*	probably null	Het
Kmt2c	A	T	5: 25,489,343 (GRCm39)	V4532E	probably damaging	Het
Kprp	A	C	3: 92,732,226 (GRCm39)	F275V	probably damaging	Het
Lrrc4	C	A	6: 28,831,595 (GRCm39)	V7L	probably damaging	Het
Map3k21	G	A	8: 126,664,050 (GRCm39)	R537H	probably damaging	Het
Mchr1	T	G	15: 81,119,980 (GRCm39)	D2E	probably benign	Het
Mixl1	T	C	1: 180,522,245 (GRCm39)	D212G	probably damaging	Het
Mup2	T	C	4: 60,139,717 (GRCm39)	T24A	probably benign	Het
Naip2	C	T	13: 100,291,459 (GRCm39)	D1160N	probably benign	Het
Naip2	T	C	13: 100,291,468 (GRCm39)	S1157G	probably benign	Het
Naip5	T	C	13: 100,358,264 (GRCm39)	K991E	possibly damaging	Het
Ndufb11b	T	A	15: 81,865,011 (GRCm39)	M84K	probably damaging	Het
Nfe2l1	G	A	11: 96,710,573 (GRCm39)	A552V	possibly damaging	Het
Or2p2	C	T	13: 21,256,784 (GRCm39)	R229H	possibly damaging	Het
Or51r1	T	G	7: 102,228,433 (GRCm39)	S244A	probably damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Pds5a	A	G	5: 65,804,479 (GRCm39)	S527P	possibly damaging	Het
Peg10	T	TCCC	6: 4,756,451 (GRCm39)		probably benign	Het
Pgc	T	A	17: 48,043,351 (GRCm39)	V233E	probably damaging	Het
Pias1	T	C	9: 62,888,164 (GRCm39)		probably benign	Het
Pign	A	T	1: 105,556,246 (GRCm39)	W72R	unknown	Het
Pmm1	C	T	15: 81,839,896 (GRCm39)	R143H	probably damaging	Het
Proc	A	G	18: 32,268,950 (GRCm39)	S12P	possibly damaging	Het
Rida	T	A	15: 34,488,823 (GRCm39)	Q23L	probably damaging	Het
Slc2a7	A	G	4: 150,242,625 (GRCm39)	T238A	probably benign	Het
Spata31h1	T	A	10: 82,123,894 (GRCm39)	S3039C	possibly damaging	Het
Spp1	A	G	5: 104,588,167 (GRCm39)	I190V	probably benign	Het
Srgap1	T	C	10: 121,628,257 (GRCm39)	D882G	probably damaging	Het
Ssrp1	T	A	2: 84,875,811 (GRCm39)	W557R	probably damaging	Het
Strn	C	G	17: 79,043,790 (GRCm39)	A43P	probably benign	Het
Taf6	A	C	5: 138,180,465 (GRCm39)	Y300D	probably damaging	Het
Tesk2	A	G	4: 116,658,933 (GRCm39)	Y270C	probably damaging	Het
Tnnt3	T	A	7: 142,065,823 (GRCm39)	D153E	probably benign	Het
Ubl7	A	G	9: 57,826,637 (GRCm39)	H117R	possibly damaging	Het
Vcan	T	A	13: 89,839,146 (GRCm39)	T2133S	possibly damaging	Het
Vrk2	T	A	11: 26,543,917 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,125,902 (GRCm39)	Q1011P	possibly damaging	Het
Wls	T	A	3: 159,615,403 (GRCm39)	I306N	possibly damaging	Het
Zfp654	A	G	16: 64,611,496 (GRCm39)	S283P	probably damaging	Het
Zfp956	C	T	6: 47,939,462 (GRCm39)	T170I	possibly damaging	Het

Other mutations in Slc22a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Slc22a8	APN	19	8,571,499 (GRCm39)	missense	probably benign	0.37
IGL00679:Slc22a8	APN	19	8,582,219 (GRCm39)	missense	possibly damaging	0.54
IGL00717:Slc22a8	APN	19	8,587,293 (GRCm39)	missense	probably benign	0.02
IGL00974:Slc22a8	APN	19	8,587,290 (GRCm39)	missense	probably damaging	1.00
IGL01104:Slc22a8	APN	19	8,585,329 (GRCm39)	missense	possibly damaging	0.62
IGL01975:Slc22a8	APN	19	8,582,775 (GRCm39)	missense	probably damaging	0.96
IGL02025:Slc22a8	APN	19	8,571,539 (GRCm39)	missense	possibly damaging	0.65
IGL02353:Slc22a8	APN	19	8,585,619 (GRCm39)	missense	possibly damaging	0.78
IGL02360:Slc22a8	APN	19	8,585,619 (GRCm39)	missense	possibly damaging	0.78
IGL02535:Slc22a8	APN	19	8,587,567 (GRCm39)	missense	probably benign
IGL02639:Slc22a8	APN	19	8,571,323 (GRCm39)	missense	probably benign
IGL03167:Slc22a8	APN	19	8,587,322 (GRCm39)	missense	probably damaging	1.00
IGL03368:Slc22a8	APN	19	8,586,483 (GRCm39)	splice site	probably benign
R0333:Slc22a8	UTSW	19	8,585,514 (GRCm39)	splice site	probably benign
R1290:Slc22a8	UTSW	19	8,587,275 (GRCm39)	missense	probably damaging	1.00
R1773:Slc22a8	UTSW	19	8,571,593 (GRCm39)	missense	probably damaging	1.00
R1861:Slc22a8	UTSW	19	8,583,503 (GRCm39)	missense	probably damaging	1.00
R2516:Slc22a8	UTSW	19	8,587,559 (GRCm39)	missense	probably benign
R2988:Slc22a8	UTSW	19	8,587,612 (GRCm39)	missense	probably benign	0.00
R3914:Slc22a8	UTSW	19	8,585,550 (GRCm39)	missense	probably damaging	1.00
R4206:Slc22a8	UTSW	19	8,585,597 (GRCm39)	missense	probably benign	0.00
R5092:Slc22a8	UTSW	19	8,571,528 (GRCm39)	missense	probably damaging	1.00
R5463:Slc22a8	UTSW	19	8,586,638 (GRCm39)	missense	probably benign	0.00
R5470:Slc22a8	UTSW	19	8,585,234 (GRCm39)	missense	probably damaging	1.00
R6733:Slc22a8	UTSW	19	8,586,656 (GRCm39)	missense	probably benign	0.01
R7009:Slc22a8	UTSW	19	8,582,781 (GRCm39)	missense	probably benign	0.05
R7642:Slc22a8	UTSW	19	8,587,409 (GRCm39)	missense	probably benign	0.00
R7684:Slc22a8	UTSW	19	8,587,294 (GRCm39)	missense	probably benign	0.00
R7689:Slc22a8	UTSW	19	8,585,248 (GRCm39)	missense	probably damaging	0.96
R7729:Slc22a8	UTSW	19	8,571,323 (GRCm39)	missense	possibly damaging	0.95
R7879:Slc22a8	UTSW	19	8,571,386 (GRCm39)	missense	probably benign	0.11
R8030:Slc22a8	UTSW	19	8,587,371 (GRCm39)	missense	probably damaging	0.99
R8113:Slc22a8	UTSW	19	8,582,903 (GRCm39)	missense	probably benign	0.00
R8280:Slc22a8	UTSW	19	8,586,627 (GRCm39)	nonsense	probably null
R8492:Slc22a8	UTSW	19	8,571,595 (GRCm39)	missense	probably damaging	1.00
R8509:Slc22a8	UTSW	19	8,585,339 (GRCm39)	critical splice donor site	probably null
R8956:Slc22a8	UTSW	19	8,587,030 (GRCm39)	nonsense	probably null
R9158:Slc22a8	UTSW	19	8,583,427 (GRCm39)	missense	probably damaging	1.00
R9349:Slc22a8	UTSW	19	8,571,469 (GRCm39)	missense	probably benign	0.00
Z1176:Slc22a8	UTSW	19	8,571,286 (GRCm39)	missense	probably benign	0.10
Z1177:Slc22a8	UTSW	19	8,582,787 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TGGCCTTGAACAAATCCCTAC -3'
(R):5'- TAAAGGACAGTCTTGGGACCC -3'

Sequencing Primer
(F):5'- CGGGTTATTCTTGTAGGAAACAACTC -3'
(R):5'- TCTTGGGACCCCTGCATAGAG -3'

Posted On

2021-11-19