Incidental Mutation 'IGL02535:Slc22a8'
ID297479
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slc22a8
Ensembl Gene ENSMUSG00000063796
Gene Namesolute carrier family 22 (organic anion transporter), member 8
SynonymsRoct, mOat3, OAT3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02535
Quality Score
Status
Chromosome19
Chromosomal Location8591254-8611834 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 8610203 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 514 (T514S)
Ref Sequence ENSEMBL: ENSMUSP00000131045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010251] [ENSMUST00000170817]
Predicted Effect probably benign
Transcript: ENSMUST00000010251
AA Change: T514S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: T514S

DomainStartEndE-ValueType
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: T514S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: T514S

DomainStartEndE-ValueType
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410089E03Rik T G 15: 8,174,838 V65G probably damaging Het
Abcc9 G T 6: 142,628,426 D993E probably benign Het
Acap1 T C 11: 69,882,694 N430D probably benign Het
Actl11 T A 9: 107,929,937 D486E possibly damaging Het
Adh6a A G 3: 138,327,390 N281D probably benign Het
Apon A T 10: 128,254,954 E167V probably damaging Het
Bahcc1 T A 11: 120,287,536 M2307K possibly damaging Het
Cdca3 A G 6: 124,830,558 T10A probably damaging Het
D330045A20Rik A T X: 139,492,647 K217I probably damaging Het
Dusp16 T C 6: 134,718,827 E347G probably benign Het
Dysf A T 6: 84,149,697 Y1298F possibly damaging Het
F12 T C 13: 55,426,344 D25G possibly damaging Het
F5 T A 1: 164,198,733 S1625T probably damaging Het
Fbxl2 T C 9: 113,979,507 E372G probably benign Het
Flrt1 T C 19: 7,096,733 I150V probably benign Het
Grin2b T A 6: 135,779,369 I453F possibly damaging Het
Hivep2 C T 10: 14,139,497 R1803C probably damaging Het
Il33 A G 19: 29,952,747 N81D probably benign Het
Ipo7 T C 7: 110,054,026 Y977H probably damaging Het
Lyst T C 13: 13,650,342 V1514A probably benign Het
Map1a C A 2: 121,302,177 S920* probably null Het
Nlrp9c T C 7: 26,372,097 N862S probably damaging Het
Olfr1054 A G 2: 86,332,675 M227T probably damaging Het
Olfr1413 C A 1: 92,573,221 Q17K probably benign Het
Olfr389 A G 11: 73,776,616 V237A probably benign Het
P2rx2 T A 5: 110,342,353 T134S probably benign Het
Papolg T C 11: 23,890,245 D77G probably benign Het
Pkd1l3 A T 8: 109,640,890 R1240* probably null Het
Slc39a5 T C 10: 128,399,330 D136G probably benign Het
Tnn T C 1: 160,122,652 probably null Het
Trav8d-2 A T 14: 53,042,684 S44C probably damaging Het
Tubb1 A G 2: 174,457,566 N347S probably benign Het
Ubap1 C T 4: 41,379,667 R294* probably null Het
Ube2o C T 11: 116,541,765 V792M probably benign Het
Usp13 A G 3: 32,837,926 S85G probably benign Het
Vmac C T 17: 56,715,550 M61I probably benign Het
Vmn1r54 T A 6: 90,269,278 I58N possibly damaging Het
Zmym5 A G 14: 56,797,666 probably null Het
Other mutations in Slc22a8
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02639:Slc22a8 APN 19 8593959 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
R7962:Slc22a8 UTSW 19 8594022 missense probably benign 0.11
R8030:Slc22a8 UTSW 19 8610007 missense probably damaging 0.99
Z1176:Slc22a8 UTSW 19 8593922 missense probably benign 0.10
Z1177:Slc22a8 UTSW 19 8605423 missense possibly damaging 0.89
Posted On2015-04-16