Mutagenetix > Incidental Mutation

Incidental Mutation 'R7684:Slc22a8'

592974

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

067780-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7684 (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 8587294 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 451 (I451M)

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: I451M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: I451M

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: I451M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: I451M

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: 99.7%
20x: 99.0%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,760,659 (GRCm39)	K1239*	probably null	Het
Abhd6	T	C	14: 8,039,807 (GRCm38)	F60S	probably damaging	Het
Adam6b	G	A	12: 113,455,196 (GRCm39)	W671*	probably null	Het
Ankrd36	A	G	11: 5,520,113 (GRCm39)	T63A	possibly damaging	Het
Arhgef16	A	G	4: 154,366,285 (GRCm39)	V494A	possibly damaging	Het
Arhgef7	T	A	8: 11,869,663 (GRCm39)	M659K	probably benign	Het
Cacna1h	A	G	17: 25,608,346 (GRCm39)	Y854H	probably damaging	Het
Chd3	A	T	11: 69,248,692 (GRCm39)	F780I	possibly damaging	Het
Cldn8	A	G	16: 88,359,335 (GRCm39)	Y197H	probably damaging	Het
Cpne8	A	T	15: 90,533,450 (GRCm39)	D58E	probably damaging	Het
Cul9	T	G	17: 46,820,815 (GRCm39)	Y1954S	probably damaging	Het
Cyp4a10	T	A	4: 115,375,549 (GRCm39)	F11I	probably benign	Het
Cysrt1	A	T	2: 25,129,094 (GRCm39)	C139*	probably null	Het
Dnajc16	A	G	4: 141,501,879 (GRCm39)	V317A	probably benign	Het
Dnmt3a	T	C	12: 3,947,340 (GRCm39)	V437A	probably benign	Het
Dok5	T	C	2: 170,683,344 (GRCm39)	C202R	probably damaging	Het
Dusp11	T	A	6: 85,927,542 (GRCm39)	R164S	probably damaging	Het
Dysf	T	C	6: 84,077,117 (GRCm39)	S648P	probably benign	Het
Egfem1	A	T	3: 29,744,334 (GRCm39)	R581S	probably damaging	Het
Enpep	A	G	3: 129,115,094 (GRCm39)	F226S	probably damaging	Het
Ep400	A	G	5: 110,845,218 (GRCm39)	I1541T	unknown	Het
Exd1	A	G	2: 119,350,684 (GRCm39)	S526P	probably damaging	Het
Fam118a	A	G	15: 84,942,982 (GRCm39)	E337G	possibly damaging	Het
Fam20b	T	C	1: 156,518,215 (GRCm39)	N193S	probably benign	Het
Fat3	A	G	9: 15,899,564 (GRCm39)		probably null	Het
Flg2	T	C	3: 93,126,956 (GRCm39)	V1956A	unknown	Het
Fzd10	A	G	5: 128,678,480 (GRCm39)	I67V	possibly damaging	Het
Gckr	A	T	5: 31,465,141 (GRCm39)	D370V	probably damaging	Het
Gm8797	A	T	3: 5,816,148 (GRCm39)	Q62L	probably benign	Het
H6pd	G	T	4: 150,080,519 (GRCm39)	Q109K	probably benign	Het
Higd1a	T	C	9: 121,679,322 (GRCm39)	K55R	possibly damaging	Het
Il1b	C	T	2: 129,209,277 (GRCm39)	V118I	probably benign	Het
Insr	T	C	8: 3,219,753 (GRCm39)	N923S	possibly damaging	Het
Krit1	A	G	5: 3,880,723 (GRCm39)	I561V	possibly damaging	Het
Lamc2	T	C	1: 153,002,771 (GRCm39)	D1070G	probably null	Het
Lpcat2	T	A	8: 93,635,823 (GRCm39)	D408E	possibly damaging	Het
Mst1r	T	A	9: 107,788,762 (GRCm39)	F427Y	probably benign	Het
Mtx1	A	T	3: 89,117,739 (GRCm39)	I258K	possibly damaging	Het
Nckap5	T	C	1: 125,954,594 (GRCm39)	T653A	probably benign	Het
Npas3	A	T	12: 54,115,609 (GRCm39)	N844Y	probably damaging	Het
Nrg3	A	T	14: 39,194,522 (GRCm39)	L79Q	probably damaging	Het
Nsmce1	C	A	7: 125,070,348 (GRCm39)	K154N	probably damaging	Het
Oard1	T	C	17: 48,723,726 (GRCm39)	L124P	probably damaging	Het
Or10ag57	T	C	2: 87,218,372 (GRCm39)	S108P	probably damaging	Het
Or10ak13	T	C	4: 118,639,471 (GRCm39)	M104V	probably benign	Het
Or51a10	G	A	7: 103,698,667 (GRCm39)	T298I	probably damaging	Het
Or51ah3	T	C	7: 103,210,425 (GRCm39)	F247S	probably benign	Het
Ovgp1	A	T	3: 105,887,272 (GRCm39)	T223S	probably damaging	Het
Pik3c2a	A	T	7: 115,987,312 (GRCm39)	Y536*	probably null	Het
Plekho2	A	T	9: 65,466,816 (GRCm39)		probably null	Het
Prelid3b	T	C	2: 174,310,210 (GRCm39)		probably null	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rxfp1	T	A	3: 79,578,214 (GRCm39)	N159I	possibly damaging	Het
Sfmbt1	A	G	14: 30,532,311 (GRCm39)	Q557R	probably damaging	Het
Slc22a18	G	T	7: 143,044,577 (GRCm39)	V177L	probably benign	Het
Slc39a12	T	C	2: 14,454,670 (GRCm39)	S563P	probably damaging	Het
Snx20	T	C	8: 89,353,863 (GRCm39)	D289G	probably benign	Het
Sptb	A	G	12: 76,658,969 (GRCm39)	Y1189H	probably benign	Het
Tbc1d1	T	A	5: 64,473,829 (GRCm39)	M784K	probably benign	Het
Tbkbp1	T	C	11: 97,038,559 (GRCm39)		probably benign	Het
Tfap2b	G	C	1: 19,284,511 (GRCm39)	D140H	probably damaging	Het
Thy1	G	A	9: 43,957,855 (GRCm39)	G13D	unknown	Het
Ticam1	A	G	17: 56,576,984 (GRCm39)	S704P	unknown	Het
Tmem151b	A	G	17: 45,857,929 (GRCm39)	Y106H	probably damaging	Het
Trappc8	T	C	18: 20,996,559 (GRCm39)	N452S	probably benign	Het
Ttc9c	A	G	19: 8,789,128 (GRCm39)	Y166H	probably damaging	Het
Txndc16	A	G	14: 45,385,325 (GRCm39)	V556A	possibly damaging	Het
Tyrp1	C	A	4: 80,758,862 (GRCm39)	S245Y	probably damaging	Het
Urb1	A	T	16: 90,583,006 (GRCm39)	L621*	probably null	Het
Wdr72	A	T	9: 74,054,292 (GRCm39)	T224S	probably damaging	Het
Zc3h18	T	G	8: 123,134,165 (GRCm39)	S544A	unknown	Het
Zfp462	T	A	4: 55,008,908 (GRCm39)	N291K	probably benign	Het
Zfp609	T	C	9: 65,638,362 (GRCm39)	N290S	possibly damaging	Het
Zfp979	A	T	4: 147,697,799 (GRCm39)	H303Q	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
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'- TACAGTCCTCAGGTAGGTGATG -3'
(R):5'- TCTGGCCTGTTTGCTCAAAG -3'

Sequencing Primer
(F):5'- GTGATGCACCTGGGTCAG -3'
(R):5'- GCAAAGAGCTCACCAGTCTTGTATG -3'

Posted On

2019-11-12