Mutagenetix > Incidental Mutation

Incidental Mutation 'R1773:Slc22a8'

196874

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

039804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1773 (G1)

Quality Score

205

Status

Not validated

Chromosome

Chromosomal Location

8568618-8589199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8571593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 108 (I108N)

Ref Sequence

ENSEMBL: ENSMUSP00000131045 (fasta)

Gene Model

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

AlphaFold

O88909

Predicted Effect

probably damaging
Transcript: ENSMUST00000010251
AA Change: I108N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: I108N

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

probably damaging
Transcript: ENSMUST00000170817
AA Change: I108N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: I108N

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	G	7: 27,280,020 (GRCm39)	K334E	probably damaging	Het
Abca12	A	G	1: 71,327,755 (GRCm39)	Y1442H	probably damaging	Het
Acot12	A	G	13: 91,905,676 (GRCm39)	T79A	probably benign	Het
Adipoq	A	C	16: 22,973,988 (GRCm39)	Q26P	unknown	Het
Afg2a	T	C	3: 37,493,334 (GRCm39)	F515L	probably damaging	Het
Akap13	T	A	7: 75,333,199 (GRCm39)	N1582K	possibly damaging	Het
Alg9	A	G	9: 50,690,396 (GRCm39)	T133A	probably benign	Het
Anks3	T	C	16: 4,765,158 (GRCm39)	T418A	probably benign	Het
Ano3	A	C	2: 110,591,800 (GRCm39)	L37R	probably damaging	Het
Ano9	A	G	7: 140,688,291 (GRCm39)	F178L	possibly damaging	Het
Arhgef12	A	G	9: 42,916,838 (GRCm39)		probably null	Het
Arl16	T	A	11: 120,356,589 (GRCm39)	I137F	possibly damaging	Het
Brpf1	T	A	6: 113,296,892 (GRCm39)	S959T	possibly damaging	Het
Ccdc27	C	T	4: 154,126,222 (GRCm39)	R89Q	unknown	Het
Cd109	A	C	9: 78,611,006 (GRCm39)	Q1207H	probably benign	Het
Cd14	A	T	18: 36,858,357 (GRCm39)	V366D	possibly damaging	Het
Cep290	G	A	10: 100,346,435 (GRCm39)	V538I	probably benign	Het
Cep57	G	A	9: 13,727,364 (GRCm39)	A202V	probably damaging	Het
Chl1	T	C	6: 103,624,292 (GRCm39)		probably null	Het
Cmah	T	G	13: 24,601,282 (GRCm39)	F29L	probably benign	Het
Cracd	G	T	5: 77,015,052 (GRCm39)	A42S	possibly damaging	Het
Crybg1	A	G	10: 43,868,544 (GRCm39)	V1378A	possibly damaging	Het
Cryzl2	A	G	1: 157,298,292 (GRCm39)	K227R	probably benign	Het
D130043K22Rik	T	G	13: 25,066,585 (GRCm39)	V794G	possibly damaging	Het
Ddx4	T	A	13: 112,736,436 (GRCm39)	T645S	probably benign	Het
Dhcr7	C	T	7: 143,401,195 (GRCm39)	R453C	possibly damaging	Het
Dhx8	T	C	11: 101,643,189 (GRCm39)	Y754H	possibly damaging	Het
Dip2b	T	A	15: 100,091,842 (GRCm39)	D860E	probably benign	Het
Dnah7a	T	C	1: 53,472,046 (GRCm39)		probably null	Het
Dst	A	G	1: 34,330,980 (GRCm39)	D6937G	probably damaging	Het
Dusp1	A	G	17: 26,726,081 (GRCm39)	I204T	probably damaging	Het
Dync2h1	T	A	9: 7,128,256 (GRCm39)	Q1859L	probably damaging	Het
E4f1	C	A	17: 24,665,558 (GRCm39)	G328V	probably damaging	Het
Eml5	T	C	12: 98,765,098 (GRCm39)	Y1617C	probably damaging	Het
Espn	G	T	4: 152,212,686 (GRCm39)	P622Q	probably damaging	Het
Fam184b	G	A	5: 45,741,676 (GRCm39)	P185L	possibly damaging	Het
Fn1	T	A	1: 71,676,542 (GRCm39)	D563V	probably damaging	Het
Gad2	A	G	2: 22,580,219 (GRCm39)	Y540C	probably benign	Het
Garin1b	T	C	6: 29,334,152 (GRCm39)	S335P	possibly damaging	Het
Gdf11	T	C	10: 128,727,163 (GRCm39)	D131G	probably damaging	Het
Gm19965	T	A	1: 116,748,989 (GRCm39)	Y223*	probably null	Het
H2-M10.6	A	G	17: 37,123,076 (GRCm39)	K3R	probably benign	Het
Hid1	A	G	11: 115,239,336 (GRCm39)	Y776H	probably damaging	Het
Hivep3	A	T	4: 119,956,034 (GRCm39)	K1450I	probably damaging	Het
Icam5	T	C	9: 20,944,821 (GRCm39)	L128P	possibly damaging	Het
Idnk	T	C	13: 58,305,526 (GRCm39)	V9A	probably damaging	Het
Il4ra	A	T	7: 125,166,354 (GRCm39)	T33S	possibly damaging	Het
Ino80	A	G	2: 119,248,890 (GRCm39)	V990A	probably benign	Het
Krtap4-9	T	C	11: 99,676,396 (GRCm39)		probably benign	Het
Lrrk2	A	G	15: 91,664,184 (GRCm39)	I1974V	possibly damaging	Het
Mcm3ap	C	T	10: 76,306,994 (GRCm39)	A369V	probably benign	Het
Nek6	A	G	2: 38,472,431 (GRCm39)	M252V	probably benign	Het
Nfasc	T	A	1: 132,538,577 (GRCm39)	I443F	probably damaging	Het
Nme8	T	G	13: 19,881,206 (GRCm39)	M1L	probably damaging	Het
Npnt	T	A	3: 132,610,454 (GRCm39)	Q423L	possibly damaging	Het
Nup133	A	T	8: 124,657,722 (GRCm39)	C404*	probably null	Het
Or2b7	T	C	13: 21,739,982 (GRCm39)	D70G	probably damaging	Het
Or4c124	A	G	2: 89,156,086 (GRCm39)	V146A	probably benign	Het
Or4f14b	A	G	2: 111,775,204 (GRCm39)	V199A	possibly damaging	Het
Or56a4	T	C	7: 104,806,190 (GRCm39)	E233G	probably benign	Het
Or5an1c	T	C	19: 12,219,023 (GRCm39)	M1V	probably null	Het
Or6c213	A	G	10: 129,574,312 (GRCm39)	L158S	probably damaging	Het
Otog	T	A	7: 45,937,583 (GRCm39)	I1764N	probably benign	Het
Oxa1l	A	G	14: 54,600,909 (GRCm39)	I127M	probably benign	Het
P4hb	C	A	11: 120,463,552 (GRCm39)	V28F	probably damaging	Het
Pbld2	C	T	10: 62,890,150 (GRCm39)	A186V	probably benign	Het
Pdzph1	G	T	17: 59,281,808 (GRCm39)	T158K	probably damaging	Het
Pgm2	T	A	5: 64,265,194 (GRCm39)		probably null	Het
Phip	A	T	9: 82,758,242 (GRCm39)	S1484T	probably benign	Het
Pikfyve	T	C	1: 65,231,430 (GRCm39)	L100P	probably damaging	Het
Pikfyve	T	C	1: 65,285,529 (GRCm39)	S923P	probably benign	Het
Pla2g4e	A	G	2: 120,075,202 (GRCm39)	S63P	probably benign	Het
Plekhh2	A	G	17: 84,906,693 (GRCm39)	E1176G	probably damaging	Het
Prlr	T	A	15: 10,325,404 (GRCm39)	Y192*	probably null	Het
Pten	T	A	19: 32,775,472 (GRCm39)	C71S	probably damaging	Het
Rbbp8nl	A	G	2: 179,922,987 (GRCm39)	L202P	probably benign	Het
Ripor2	T	A	13: 24,885,237 (GRCm39)	S491T	probably benign	Het
Robo1	A	T	16: 72,801,399 (GRCm39)	I1008F	probably benign	Het
Scg2	T	C	1: 79,413,352 (GRCm39)	N417S	probably benign	Het
Scn8a	A	G	15: 100,937,496 (GRCm39)	I1581V	probably damaging	Het
Slc9a8	A	T	2: 167,313,385 (GRCm39)	T416S	possibly damaging	Het
Spata32	T	A	11: 103,099,644 (GRCm39)	E287V	probably damaging	Het
Tgfbrap1	C	T	1: 43,114,512 (GRCm39)	G196D	probably damaging	Het
Tgm5	G	T	2: 120,908,131 (GRCm39)	T15K	possibly damaging	Het
Tmc1	C	T	19: 20,803,865 (GRCm39)		probably null	Het
Tmem177	T	C	1: 119,838,306 (GRCm39)	I124M	possibly damaging	Het
Trim30a	A	G	7: 104,085,108 (GRCm39)	F34S	probably damaging	Het
Tsn	T	C	1: 118,232,969 (GRCm39)	T112A	probably benign	Het
Tspyl5	T	G	15: 33,686,922 (GRCm39)	N341T	probably benign	Het
Vmn2r108	C	T	17: 20,689,335 (GRCm39)	C540Y	probably damaging	Het
Vrtn	C	T	12: 84,696,998 (GRCm39)	R583W	probably damaging	Het
Wnt1	T	C	15: 98,689,638 (GRCm39)	S142P	probably damaging	Het
Wrn	A	T	8: 33,833,589 (GRCm39)	I108N	probably damaging	Het
Zfhx2	A	C	14: 55,310,348 (GRCm39)	C733G	possibly damaging	Het
Zfp219	T	C	14: 52,244,563 (GRCm39)	T539A	probably damaging	Het
Zswim8	T	A	14: 20,761,598 (GRCm39)	M177K	probably 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
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
R9074:Slc22a8	UTSW	19	8,587,025 (GRCm39)	missense	possibly damaging	0.60
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'- ACTTGCTACAGATCTTCACAGCCAC -3'
(R):5'- CTTGGGCATGAACGAATCAAACCAC -3'

Sequencing Primer
(F):5'- TGACCACCACTGTCGCC -3'
(R):5'- CGAATCAAACCACTCAGTTCTTGTG -3'

Posted On

2014-05-23