Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02639:Slc22a8'

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301671

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Slc22a8

Ensembl Gene

ENSMUSG00000063796

Gene Name

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

Synonyms

Roct, mOat3, OAT3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02639

Quality Score

Status

Chromosome

Chromosomal Location

8591254-8611834 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 8593959 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 18 (Y18F)

Ref Sequence

ENSEMBL: ENSMUSP00000131045 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000010251
AA Change: Y18F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: Y18F

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

noncoding transcript
Transcript: ENSMUST00000136332

Predicted Effect

probably benign
Transcript: ENSMUST00000170817
AA Change: Y18F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: Y18F

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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	C	T	15: 37,429,804	R71*	probably null	Het
Abca5	A	T	11: 110,288,073	I1140N	possibly damaging	Het
Atp6v0a1	T	A	11: 101,055,518	I773N	possibly damaging	Het
Atp9a	A	G	2: 168,649,620	M675T	probably damaging	Het
Baz1a	A	G	12: 54,896,025		probably benign	Het
Cd5l	T	C	3: 87,368,506	V261A	probably damaging	Het
Copb1	A	G	7: 114,226,595		probably benign	Het
Cul5	T	C	9: 53,655,342	D130G	possibly damaging	Het
Cyp2j5	T	A	4: 96,658,749	Q176L	probably benign	Het
D430042O09Rik	A	G	7: 125,872,792	I1518V	probably damaging	Het
Ddo	A	G	10: 40,647,737	D241G	probably damaging	Het
Defa29	A	G	8: 21,326,121	C77R	possibly damaging	Het
Dpp4	T	C	2: 62,352,240	N566D	probably benign	Het
Emilin2	T	C	17: 71,274,549	D394G	probably benign	Het
Fbf1	T	C	11: 116,152,600	E461G	probably benign	Het
Fgfr2	A	G	7: 130,228,802		probably benign	Het
Fibcd1	G	A	2: 31,817,150	T365M	probably damaging	Het
Fndc3a	A	C	14: 72,574,357	H344Q	probably benign	Het
Fnip1	T	A	11: 54,475,640	C52*	probably null	Het
Fto	T	A	8: 91,409,528	N143K	probably damaging	Het
Gm2035	G	T	12: 87,919,499	T120K	probably benign	Het
Hells	G	T	19: 38,938,429	L84F	probably damaging	Het
Hydin	G	A	8: 110,538,449	V2755I	probably benign	Het
Irgq	C	A	7: 24,531,462	A26E	probably damaging	Het
Klhl29	A	T	12: 5,137,453	Y304N	probably damaging	Het
Muc6	T	C	7: 141,649,578		probably benign	Het
Myo15	T	C	11: 60,478,621	F736L	probably benign	Het
Nynrin	G	T	14: 55,870,655	W1073L	probably damaging	Het
Olfr116	A	T	17: 37,623,987	I216N	probably benign	Het
Olfr1490	A	T	19: 13,654,596	T51S	possibly damaging	Het
Olfr310	A	T	7: 86,269,720	I23N	probably damaging	Het
Olfr389	A	T	11: 73,776,545	C261S	probably benign	Het
Olfr63	G	A	17: 33,269,395	V224M	possibly damaging	Het
Olfr642	C	A	7: 104,049,781	C191F	probably damaging	Het
Olfr675	T	A	7: 105,024,222	I253F	probably damaging	Het
Pdzd2	T	A	15: 12,592,243	K105M	probably damaging	Het
Pip5k1c	C	A	10: 81,317,321		probably null	Het
Pola2	A	G	19: 5,953,774	V191A	probably benign	Het
Slc26a5	C	T	5: 21,819,767	V440M	probably damaging	Het

Other mutations in Slc22a8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00492:Slc22a8	APN	19	8594135	missense	probably benign	0.37
IGL00679:Slc22a8	APN	19	8604855	missense	possibly damaging	0.54
IGL00717:Slc22a8	APN	19	8609929	missense	probably benign	0.02
IGL00974:Slc22a8	APN	19	8609926	missense	probably damaging	1.00
IGL01104:Slc22a8	APN	19	8607965	missense	possibly damaging	0.62
IGL01975:Slc22a8	APN	19	8605411	missense	probably damaging	0.96
IGL02025:Slc22a8	APN	19	8594175	missense	possibly damaging	0.65
IGL02353:Slc22a8	APN	19	8608255	missense	possibly damaging	0.78
IGL02360:Slc22a8	APN	19	8608255	missense	possibly damaging	0.78
IGL02535:Slc22a8	APN	19	8610203	missense	probably benign
IGL03167:Slc22a8	APN	19	8609958	missense	probably damaging	1.00
IGL03368:Slc22a8	APN	19	8609119	splice site	probably benign
R0333:Slc22a8	UTSW	19	8608150	splice site	probably benign
R1290:Slc22a8	UTSW	19	8609911	missense	probably damaging	1.00
R1773:Slc22a8	UTSW	19	8594229	missense	probably damaging	1.00
R1861:Slc22a8	UTSW	19	8606139	missense	probably damaging	1.00
R2516:Slc22a8	UTSW	19	8610195	missense	probably benign
R2988:Slc22a8	UTSW	19	8610248	missense	probably benign	0.00
R3914:Slc22a8	UTSW	19	8608186	missense	probably damaging	1.00
R4206:Slc22a8	UTSW	19	8608233	missense	probably benign	0.00
R5092:Slc22a8	UTSW	19	8594164	missense	probably damaging	1.00
R5463:Slc22a8	UTSW	19	8609274	missense	probably benign	0.00
R5470:Slc22a8	UTSW	19	8607870	missense	probably damaging	1.00
R6733:Slc22a8	UTSW	19	8609292	missense	probably benign	0.01
R7009:Slc22a8	UTSW	19	8605417	missense	probably benign	0.05
R7642:Slc22a8	UTSW	19	8610045	missense	probably benign	0.00
R7684:Slc22a8	UTSW	19	8609930	missense	probably benign	0.00
R7689:Slc22a8	UTSW	19	8607884	missense	probably damaging	0.96
R7729:Slc22a8	UTSW	19	8593959	missense	possibly damaging	0.95
R7879:Slc22a8	UTSW	19	8594022	missense	probably benign	0.11
R8030:Slc22a8	UTSW	19	8610007	missense	probably damaging	0.99
R8113:Slc22a8	UTSW	19	8605539	missense	probably benign	0.00
R8280:Slc22a8	UTSW	19	8609263	nonsense	probably null
R8492:Slc22a8	UTSW	19	8594231	missense	probably damaging	1.00
R8509:Slc22a8	UTSW	19	8607975	critical splice donor site	probably null
Z1176:Slc22a8	UTSW	19	8593922	missense	probably benign	0.10
Z1177:Slc22a8	UTSW	19	8605423	missense	possibly damaging	0.89

Posted On

2015-04-16