Mutagenetix > Incidental Mutation

Incidental Mutation 'R7879:Slc22a8'

608670

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

045931-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7879 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

8568618-8589199 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8571386 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 39 (I39T)

Ref Sequence

ENSEMBL: ENSMUSP00000010251 (fasta)

Gene Model

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

AlphaFold

O88909

Predicted Effect

probably benign
Transcript: ENSMUST00000010251
AA Change: I39T

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: I39T

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 benign
Transcript: ENSMUST00000170817
AA Change: I39T

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: I39T

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449I24Rik	T	C	5: 146,439,662 (GRCm39)	I81T	probably benign	Het
Acnat2	G	A	4: 49,383,299 (GRCm39)	P85S	probably damaging	Het
Akr1c19	G	A	13: 4,286,223 (GRCm39)	V74M	probably damaging	Het
Alb	C	A	5: 90,620,507 (GRCm39)	T539K	probably benign	Het
B4galnt2	G	A	11: 95,760,223 (GRCm39)	T268I	possibly damaging	Het
Bcl7b	G	A	5: 135,205,986 (GRCm39)	E58K	possibly damaging	Het
Calr3	C	T	8: 73,178,487 (GRCm39)	S372N	unknown	Het
Cdcp3	T	A	7: 130,844,871 (GRCm39)	V588E	probably damaging	Het
Cdh20	A	T	1: 104,875,047 (GRCm39)		probably null	Het
Cdh20	A	C	1: 109,976,677 (GRCm39)	E114A	probably benign	Het
Cep70	A	G	9: 99,144,686 (GRCm39)	R74G	possibly damaging	Het
Chrna6	A	G	8: 27,897,109 (GRCm39)	F256S	probably damaging	Het
Cic	A	G	7: 24,984,551 (GRCm39)	T996A	probably benign	Het
Clstn2	A	G	9: 97,351,817 (GRCm39)	V536A	possibly damaging	Het
Csmd1	A	T	8: 16,441,820 (GRCm39)	M348K	probably benign	Het
Dnah11	A	C	12: 118,004,744 (GRCm39)	D2192E	probably damaging	Het
Dnhd1	A	G	7: 105,352,646 (GRCm39)	I2600V	probably benign	Het
Dock3	A	C	9: 106,785,700 (GRCm39)	S185A	probably benign	Het
Dock4	A	T	12: 40,780,083 (GRCm39)	D628V	possibly damaging	Het
Dzank1	A	T	2: 144,333,718 (GRCm39)	S371T	probably benign	Het
Fam83b	A	T	9: 76,399,737 (GRCm39)	N455K	possibly damaging	Het
Fcrlb	T	C	1: 170,736,365 (GRCm39)	Y137C	probably damaging	Het
Gtf2i	G	A	5: 134,295,471 (GRCm39)	T327M	possibly damaging	Het
Hspa5	T	A	2: 34,665,941 (GRCm39)	M595K	probably benign	Het
Htt	C	T	5: 34,981,252 (GRCm39)	A875V	probably benign	Het
Hvcn1	G	A	5: 122,376,701 (GRCm39)		probably null	Het
Igsf10	A	G	3: 59,238,145 (GRCm39)	S679P	probably damaging	Het
Itsn2	A	G	12: 4,751,265 (GRCm39)	H1285R	probably benign	Het
Kcnq4	T	C	4: 120,559,632 (GRCm39)	T523A	probably benign	Het
Kif6	T	A	17: 50,139,214 (GRCm39)	I562N	probably benign	Het
Klhl9	C	A	4: 88,638,575 (GRCm39)	W555C	probably damaging	Het
Krt78	T	C	15: 101,856,624 (GRCm39)	T423A	probably benign	Het
Mapk10	C	T	5: 103,111,362 (GRCm39)	V391I	probably benign	Het
Noa1	T	C	5: 77,445,044 (GRCm39)	M592V	probably benign	Het
Npy5r	A	G	8: 67,133,968 (GRCm39)	M275T	possibly damaging	Het
Nuak2	T	A	1: 132,259,695 (GRCm39)	V499E	probably benign	Het
Or4x6	A	T	2: 89,949,185 (GRCm39)	C252*	probably null	Het
Or6c213	T	C	10: 129,574,559 (GRCm39)	I76V	probably benign	Het
Otogl	T	C	10: 107,612,970 (GRCm39)	E2052G	probably benign	Het
Pard3b	T	A	1: 62,198,670 (GRCm39)	C253S	possibly damaging	Het
Pclo	T	C	5: 14,727,228 (GRCm39)	S2029P	unknown	Het
Plekhg3	A	G	12: 76,612,343 (GRCm39)	I401M	probably damaging	Het
Polg	A	T	7: 79,100,392 (GRCm39)	C1140S	probably benign	Het
Prl7c1	A	T	13: 27,962,817 (GRCm39)	L62H	probably damaging	Het
Psmf1	T	A	2: 151,576,163 (GRCm39)	E115V	probably benign	Het
Ptpn9	A	T	9: 56,964,010 (GRCm39)	N381I	possibly damaging	Het
Pzp	A	G	6: 128,465,979 (GRCm39)	S1234P	probably benign	Het
Qrich1	A	G	9: 108,436,485 (GRCm39)	T728A	possibly damaging	Het
Ralgps2	C	A	1: 156,656,636 (GRCm39)	A323S	probably benign	Het
Rimbp3	T	C	16: 17,028,910 (GRCm39)	V778A	possibly damaging	Het
Scn1a	A	T	2: 66,116,349 (GRCm39)	L430*	probably null	Het
Sema7a	A	T	9: 57,862,363 (GRCm39)	I189F	probably damaging	Het
Stap2	T	C	17: 56,309,023 (GRCm39)	T115A	probably benign	Het
Stmn4	A	G	14: 66,595,388 (GRCm39)	I138V	probably benign	Het
Suds3	C	T	5: 117,236,335 (GRCm39)		probably null	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tet1	A	C	10: 62,714,825 (GRCm39)	D323E	probably benign	Het
Tia1	A	G	6: 86,401,347 (GRCm39)	D140G	probably damaging	Het
Trio	C	T	15: 27,852,010 (GRCm39)	R827H	possibly damaging	Het
Ttn	A	G	2: 76,625,397 (GRCm39)		probably null	Het
Unc80	T	C	1: 66,549,866 (GRCm39)	V708A	probably benign	Het
Vmn1r194	A	T	13: 22,428,772 (GRCm39)	T130S	probably benign	Het
Wfikkn2	A	G	11: 94,129,755 (GRCm39)	C129R	probably damaging	Het
Zkscan5	A	C	5: 145,157,676 (GRCm39)	H726P	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
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
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'- ATGATGCTCCACAGGCCTAC -3'
(R):5'- GTAGATCCAGCCATCCAAGCATG -3'

Sequencing Primer
(F):5'- TGCTCCACAGGCCTACATACAATTC -3'
(R):5'- AAGCATGGCTCGGTGGC -3'

Posted On

2019-12-20