Incidental Mutation 'IGL02360:Slc22a8'
ID 290445
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 OAT3, mOat3, Roct
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02360
Quality Score
Status
Chromosome 19
Chromosomal Location 8568618-8589199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8585619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 328 (F328S)
Ref Sequence ENSEMBL: ENSMUSP00000131045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010251] [ENSMUST00000170817]
AlphaFold O88909
Predicted Effect possibly damaging
Transcript: ENSMUST00000010251
AA Change: F328S

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: F328S

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 possibly damaging
Transcript: ENSMUST00000170817
AA Change: F328S

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: F328S

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 A T 19: 40,566,364 (GRCm39) V102D probably damaging Het
Car4 C T 11: 84,856,593 (GRCm39) P294S probably damaging Het
Casp6 C T 3: 129,704,175 (GRCm39) S87L probably damaging Het
Ccdc121rt1 T C 1: 181,338,190 (GRCm39) E254G possibly damaging Het
Ccnl1 A C 3: 65,856,141 (GRCm39) C255G probably damaging Het
Celf4 T C 18: 25,619,955 (GRCm39) I485M probably damaging Het
Cntln A G 4: 84,968,087 (GRCm39) R769G probably damaging Het
Cyp2d12 T C 15: 82,443,171 (GRCm39) V360A probably benign Het
Dgki T C 6: 36,824,324 (GRCm39) E1068G probably damaging Het
Fbxl4 A G 4: 22,433,684 (GRCm39) N607S probably benign Het
Fgd4 T C 16: 16,279,909 (GRCm39) I383V probably damaging Het
Fgd6 C T 10: 93,974,258 (GRCm39) T1333I possibly damaging Het
Got1 A G 19: 43,512,882 (GRCm39) S5P probably damaging Het
Herc2 T A 7: 55,764,560 (GRCm39) N995K probably damaging Het
Kcnma1 A G 14: 23,641,681 (GRCm39) F159S probably damaging Het
Krt87 T C 15: 101,383,339 (GRCm39) S456G probably benign Het
Lhb T C 7: 45,070,718 (GRCm39) V32A possibly damaging Het
Mau2 A T 8: 70,472,288 (GRCm39) V602E probably damaging Het
Mpst C T 15: 78,294,285 (GRCm39) L6F probably damaging Het
Nlrp2 G A 7: 5,340,598 (GRCm39) T72I probably damaging Het
Or8g20 A G 9: 39,396,444 (GRCm39) I32T probably benign Het
Phldb2 T C 16: 45,569,142 (GRCm39) Y1239C probably damaging Het
Sult2a3 G A 7: 13,855,575 (GRCm39) R94* probably null Het
Syt16 A G 12: 74,176,245 (GRCm39) N38S probably damaging Het
Tbc1d1 G A 5: 64,414,179 (GRCm39) R180Q probably damaging Het
Ush2a T C 1: 188,460,635 (GRCm39) I2632T probably benign Het
Vcam1 T A 3: 115,909,543 (GRCm39) I595F possibly damaging Het
Other mutations in Slc22a8
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2015-04-16