Incidental Mutation 'R3914:Slc22a8'
ID 309577
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 040912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3914 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 8568618-8589199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8585550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 305 (I305N)
Ref Sequence ENSEMBL: ENSMUSP00000131045 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010251] [ENSMUST00000170817]
AlphaFold O88909
Predicted Effect probably damaging
Transcript: ENSMUST00000010251
AA Change: I305N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: I305N

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 damaging
Transcript: ENSMUST00000170817
AA Change: I305N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: I305N

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
Meta Mutation Damage Score 0.4289 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (36/36)
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8b2 A T 3: 89,861,755 (GRCm39) I266N probably damaging Het
AU041133 G A 10: 81,987,649 (GRCm39) R434Q probably damaging Het
Ccdc174 G T 6: 91,876,338 (GRCm39) A392S possibly damaging Het
Cdh18 T C 15: 23,410,771 (GRCm39) Y419H probably damaging Het
Col20a1 A G 2: 180,640,285 (GRCm39) K509R probably benign Het
Csmd2 A T 4: 128,215,117 (GRCm39) D513V probably benign Het
Disp1 A G 1: 182,870,666 (GRCm39) F585L probably benign Het
Entpd7 G A 19: 43,679,597 (GRCm39) R50Q probably benign Het
Exoc1 G A 5: 76,691,408 (GRCm39) S244N possibly damaging Het
Fam234b A G 6: 135,202,681 (GRCm39) D345G probably damaging Het
G530012D18Rik CAGAGAGA CAGAGAGAGA 1: 85,504,945 (GRCm39) probably null Het
Gprc6a T A 10: 51,504,371 (GRCm39) M158L probably benign Het
Hdc T C 2: 126,444,926 (GRCm39) T255A probably damaging Het
Hps5 T C 7: 46,432,950 (GRCm39) T257A probably damaging Het
Ice1 A G 13: 70,754,203 (GRCm39) C628R probably benign Het
Igkv2-137 A T 6: 67,532,968 (GRCm39) R44W probably damaging Het
Islr2 A T 9: 58,105,666 (GRCm39) Y531* probably null Het
Mast4 G A 13: 102,875,829 (GRCm39) R1112* probably null Het
Mrc2 T C 11: 105,238,058 (GRCm39) probably benign Het
Myo19 G A 11: 84,785,429 (GRCm39) R224H probably damaging Het
Nup58 A G 14: 60,469,596 (GRCm39) M375T possibly damaging Het
Phaf1 A G 8: 105,966,615 (GRCm39) N121D probably benign Het
Phldb2 T C 16: 45,577,526 (GRCm39) E1133G probably damaging Het
Rabl6 T C 2: 25,478,718 (GRCm39) T238A possibly damaging Het
Ranbp17 G A 11: 33,429,189 (GRCm39) A352V probably benign Het
Riok3 A G 18: 12,281,879 (GRCm39) I283V probably benign Het
Rrm1 A G 7: 102,106,381 (GRCm39) Y300C probably damaging Het
Shoc1 T A 4: 59,094,201 (GRCm39) R174S possibly damaging Het
Sipa1l3 T C 7: 29,099,510 (GRCm39) D253G probably benign Het
Slc26a3 A T 12: 31,503,905 (GRCm39) E303D probably benign Het
Slc32a1 C T 2: 158,453,152 (GRCm39) probably benign Het
Tars3 C A 7: 65,333,556 (GRCm39) Q585K probably benign Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Ubqlnl A G 7: 103,798,813 (GRCm39) V228A probably benign Het
Wnt7b T A 15: 85,422,059 (GRCm39) D201V possibly damaging Het
Xpot A T 10: 121,440,443 (GRCm39) I596N 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAACCATGTATCTGCCTCTCTTG -3'
(R):5'- ATGGAAGCTGGCCTTAGCAG -3'

Sequencing Primer
(F):5'- GCCTGTTTCCTTGGCTTAGAGC -3'
(R):5'- AGCCCTAGGAGGCATTCTCTTG -3'
Posted On 2015-04-17