Incidental Mutation 'R5092:Slc22a8'
ID 387884
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 042681-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5092 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 8568618-8589199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8571528 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 86 (N86K)
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: N86K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000010251
Gene: ENSMUSG00000063796
AA Change: N86K

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 noncoding transcript
Transcript: ENSMUST00000136332
Predicted Effect probably damaging
Transcript: ENSMUST00000170817
AA Change: N86K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131045
Gene: ENSMUSG00000063796
AA Change: N86K

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
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.9%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C T 7: 40,637,091 (GRCm39) probably benign Het
Abca13 T A 11: 9,208,535 (GRCm39) L236Q probably damaging Het
Acp2 A T 2: 91,038,391 (GRCm39) T255S probably benign Het
Acsf3 A C 8: 123,544,131 (GRCm39) R536S probably benign Het
Adgrb1 T G 15: 74,401,664 (GRCm39) V220G probably benign Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atp5f1b A G 10: 127,919,854 (GRCm39) Q74R probably benign Het
Bltp1 A T 3: 37,054,234 (GRCm39) M3118L probably benign Het
Brf1 G A 12: 112,943,352 (GRCm39) T166M probably damaging Het
Capn9 A G 8: 125,324,264 (GRCm39) K188R probably damaging Het
Casp8 A T 1: 58,883,835 (GRCm39) N381Y possibly damaging Het
Ccdc88b A G 19: 6,825,600 (GRCm39) S1218P probably damaging Het
Cdc42bpg C T 19: 6,363,250 (GRCm39) P403S probably benign Het
Cdkal1 T A 13: 30,030,222 (GRCm39) Y91F probably damaging Het
Cdyl2 T C 8: 117,350,679 (GRCm39) N151D possibly damaging Het
Cnot1 T A 8: 96,479,396 (GRCm39) R875S possibly damaging Het
Cpd A G 11: 76,702,530 (GRCm39) S613P possibly damaging Het
Cyp2e1 G T 7: 140,354,648 (GRCm39) R492L probably damaging Het
D5Ertd579e G A 5: 36,760,047 (GRCm39) T1371M probably benign Het
Dcaf8 A G 1: 172,014,476 (GRCm39) T394A probably benign Het
Dgka T C 10: 128,571,702 (GRCm39) E117G probably damaging Het
Dock4 G A 12: 40,894,440 (GRCm39) V1867I probably benign Het
E2f2 G T 4: 135,914,248 (GRCm39) A333S probably benign Het
Eif3l T C 15: 78,968,354 (GRCm39) S208P probably benign Het
Elovl3 A T 19: 46,122,961 (GRCm39) H179L probably damaging Het
Eml5 T C 12: 98,758,875 (GRCm39) D1766G probably damaging Het
Eno4 A G 19: 58,934,023 (GRCm39) T75A probably benign Het
Fam135a C T 1: 24,067,888 (GRCm39) D94N probably benign Het
Fasn G T 11: 120,705,862 (GRCm39) Q1136K probably benign Het
Fcer1a T G 1: 173,053,022 (GRCm39) N58T probably damaging Het
Frmd4b T A 6: 97,272,941 (GRCm39) D763V probably damaging Het
Gm43518 A G 5: 124,076,297 (GRCm39) T115A probably damaging Het
Gria4 C T 9: 4,472,176 (GRCm39) E438K probably benign Het
Grin2d T C 7: 45,503,692 (GRCm39) E681G probably damaging Het
Gtf3c5 G T 2: 28,472,885 (GRCm39) N35K possibly damaging Het
Hydin A G 8: 111,309,300 (GRCm39) T4031A probably benign Het
Igfn1 G T 1: 135,892,564 (GRCm39) N2185K probably benign Het
Il17rb T C 14: 29,724,333 (GRCm39) T174A probably benign Het
Kdm3b T A 18: 34,946,515 (GRCm39) C835S probably benign Het
Lgi2 A T 5: 52,695,429 (GRCm39) I510N probably damaging Het
Map3k6 A G 4: 132,979,054 (GRCm39) E1164G probably benign Het
Mpv17l T A 16: 13,758,537 (GRCm39) M1K probably null Het
Myoc T A 1: 162,467,203 (GRCm39) L124Q probably damaging Het
Nbeal2 C A 9: 110,455,796 (GRCm39) probably null Het
Nek10 A G 14: 14,820,851 (GRCm38) K13E possibly damaging Het
Nt5dc2 A G 14: 30,860,989 (GRCm39) H491R possibly damaging Het
Or4f61 A C 2: 111,922,452 (GRCm39) M198R possibly damaging Het
Or51b6 T A 7: 103,556,406 (GRCm39) Y250* probably null Het
Or8k21 T C 2: 86,144,706 (GRCm39) Q308R probably benign Het
Pclo T A 5: 14,727,322 (GRCm39) probably benign Het
Pgm2 A T 5: 64,265,092 (GRCm39) N371I possibly damaging Het
Phf20l1 T A 15: 66,508,762 (GRCm39) S873T possibly damaging Het
Plch1 T C 3: 63,606,131 (GRCm39) T1249A probably benign Het
Plekhn1 A T 4: 156,309,222 (GRCm39) I228N possibly damaging Het
Ppp1r12a A T 10: 108,103,263 (GRCm39) probably null Het
Ptchd3 T C 11: 121,721,972 (GRCm39) Y282H probably damaging Het
Ptprk T A 10: 28,468,769 (GRCm39) N1396K probably damaging Het
Rap1gap2 T C 11: 74,329,121 (GRCm39) E81G probably damaging Het
Rpf2 T C 10: 40,122,971 (GRCm39) M1V probably null Het
Rpgrip1l G A 8: 91,948,012 (GRCm39) Q1224* probably null Het
Rreb1 A G 13: 38,112,254 (GRCm39) D286G probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Senp5 A T 16: 31,807,960 (GRCm39) N431K probably benign Het
Serpina1f A C 12: 103,659,809 (GRCm39) S158A probably damaging Het
Sertad3 T A 7: 27,176,145 (GRCm39) I193N probably damaging Het
Slc6a2 T C 8: 93,721,347 (GRCm39) V492A possibly damaging Het
Slf2 T A 19: 44,940,523 (GRCm39) D773E probably benign Het
Slmap A C 14: 26,184,744 (GRCm39) L272R probably damaging Het
Smyd5 T C 6: 85,422,185 (GRCm39) probably benign Het
Snx21 G T 2: 164,628,666 (GRCm39) R103L probably damaging Het
Sphk2 T A 7: 45,361,777 (GRCm39) probably null Het
Stab1 T C 14: 30,867,812 (GRCm39) K1653E probably benign Het
Syde1 A G 10: 78,425,252 (GRCm39) V253A probably benign Het
Sympk G T 7: 18,776,584 (GRCm39) R492L probably benign Het
Taar7f T C 10: 23,925,451 (GRCm39) I15T probably benign Het
Tas2r140 A G 6: 40,468,200 (GRCm39) D10G probably benign Het
Tbcc A G 17: 47,202,600 (GRCm39) S329G probably benign Het
Teddm3 G A 16: 20,971,900 (GRCm39) T223M probably benign Het
Tex14 G T 11: 87,405,668 (GRCm39) C860F probably benign Het
Thada A T 17: 84,751,896 (GRCm39) L360Q probably damaging Het
Thop1 C A 10: 80,916,412 (GRCm39) H473Q probably damaging Het
Tln2 T C 9: 67,163,310 (GRCm39) D1075G probably benign Het
Tmem130 G A 5: 144,680,528 (GRCm39) T292I probably benign Het
Tmem198b T C 10: 128,637,305 (GRCm39) N278S probably benign Het
Ttc21a A T 9: 119,771,731 (GRCm39) T177S probably benign Het
Ubr2 A T 17: 47,280,173 (GRCm39) C659S probably damaging Het
Vmn2r4 T C 3: 64,298,373 (GRCm39) K585R probably benign Het
Vmn2r86 A G 10: 130,282,456 (GRCm39) I720T probably damaging Het
Wdr35 G T 12: 9,037,327 (GRCm39) W311L probably damaging Het
Zfp39 A T 11: 58,782,028 (GRCm39) F245I possibly damaging Het
Zftraf1 A T 15: 76,530,512 (GRCm39) F269L probably benign Het
Zmym5 G A 14: 57,034,236 (GRCm39) T325I probably benign Het
Zng1 A T 19: 24,898,383 (GRCm39) probably null 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
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
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'- CTCCCAATCCTCGGAATAGC -3'
(R):5'- ATTAGCACTGGGATCCTTCCTC -3'

Sequencing Primer
(F):5'- TCGGAATAGCCAACCACAACTTG -3'
(R):5'- TCTTTCAATCCCAGGAAATCTAGGC -3'
Posted On 2016-06-06