Incidental Mutation 'R1590:Slco1a8'
ID 177803
Institutional Source Beutler Lab
Gene Symbol Slco1a8
Ensembl Gene ENSMUSG00000079263
Gene Name solute carrier organic anion transporter family, member 1a8
Synonyms Gm6614
MMRRC Submission 039627-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R1590 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 141917571-141957140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 141926598 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 576 (S576N)
Ref Sequence ENSEMBL: ENSMUSP00000137696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]
AlphaFold M0QWR8
Predicted Effect probably benign
Transcript: ENSMUST00000111832
AA Change: S576N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: S576N

DomainStartEndE-ValueType
Pfam:OATP 1 577 2.5e-156 PFAM
Pfam:MFS_1 125 402 1e-23 PFAM
Pfam:Kazal_2 425 466 4.1e-9 PFAM
transmembrane domain 580 602 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158991
Predicted Effect probably benign
Transcript: ENSMUST00000181628
AA Change: S596N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: S596N

DomainStartEndE-ValueType
Pfam:OATP 19 598 2.8e-187 PFAM
Pfam:MFS_1 145 422 8e-24 PFAM
Pfam:Kazal_2 445 486 1.1e-7 PFAM
transmembrane domain 600 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000181791
AA Change: S576N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: S576N

DomainStartEndE-ValueType
Pfam:OATP 1 578 2.3e-186 PFAM
Pfam:MFS_1 125 402 8.6e-24 PFAM
Pfam:Kazal_2 425 466 1.4e-7 PFAM
transmembrane domain 580 602 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.0%
  • 20x: 91.4%
Validation Efficiency 97% (69/71)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp A G 1: 74,322,370 (GRCm39) S95P probably damaging Het
Ankmy1 T C 1: 92,816,397 (GRCm39) Y239C probably damaging Het
Atp12a T C 14: 56,617,512 (GRCm39) S601P probably damaging Het
Atp1b3 T C 9: 96,225,402 (GRCm39) T89A probably benign Het
B3galt4 G A 17: 34,169,813 (GRCm39) R142C probably damaging Het
Brme1 A T 8: 84,893,715 (GRCm39) Q294L probably benign Het
Btnl2 A T 17: 34,580,114 (GRCm39) I216F possibly damaging Het
Cabs1 A T 5: 88,127,490 (GRCm39) H47L probably damaging Het
Ccdc68 T A 18: 70,073,251 (GRCm39) D66E probably benign Het
Cdc42ep4 T C 11: 113,619,392 (GRCm39) D333G possibly damaging Het
Ckmt1 G A 2: 121,194,003 (GRCm39) D389N possibly damaging Het
Dact1 G T 12: 71,364,349 (GRCm39) V340F probably benign Het
Dnah2 T C 11: 69,412,024 (GRCm39) T246A probably benign Het
Dnah2 A G 11: 69,313,580 (GRCm39) probably null Het
Ecm1 G A 3: 95,643,275 (GRCm39) R342C probably damaging Het
Efcab14 A G 4: 115,613,746 (GRCm39) probably benign Het
Eprs1 A G 1: 185,133,707 (GRCm39) T795A probably damaging Het
Esp36 T A 17: 38,728,202 (GRCm39) E26D possibly damaging Het
Fpr-rs7 T C 17: 20,333,678 (GRCm39) T271A probably benign Het
Fsip2 A T 2: 82,813,131 (GRCm39) H3150L probably benign Het
Gimap7 G A 6: 48,700,953 (GRCm39) V180M probably damaging Het
Gtf3c1 T C 7: 125,275,833 (GRCm39) H531R possibly damaging Het
Herc1 T A 9: 66,399,235 (GRCm39) probably benign Het
Hip1r A G 5: 124,140,203 (GRCm39) Y1061C probably benign Het
Ipo11 T C 13: 107,023,225 (GRCm39) Y420C probably damaging Het
Ipo8 T C 6: 148,712,163 (GRCm39) probably null Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Klhl1 A T 14: 96,606,072 (GRCm39) M243K probably damaging Het
Lrp2 A G 2: 69,297,107 (GRCm39) probably null Het
Mag T C 7: 30,601,277 (GRCm39) E439G probably damaging Het
Mcm3ap T A 10: 76,332,375 (GRCm39) F1231I probably benign Het
Mcmdc2 C T 1: 9,986,780 (GRCm39) Q204* probably null Het
Mpl A C 4: 118,301,221 (GRCm39) L548R probably damaging Het
Mrps2 C T 2: 28,359,500 (GRCm39) A119V probably benign Het
Myo18b G A 5: 113,023,132 (GRCm39) Q87* probably null Het
Nfat5 A G 8: 108,020,522 (GRCm39) Y22C probably damaging Het
Nnt T A 13: 119,523,197 (GRCm39) I232L possibly damaging Het
Or2a52 A G 6: 43,144,846 (GRCm39) N285D probably damaging Het
Or8g17 T C 9: 38,930,253 (GRCm39) N195D probably benign Het
Or9s13 G A 1: 92,548,467 (GRCm39) V280M possibly damaging Het
Parp2 C T 14: 51,048,001 (GRCm39) P76S probably benign Het
Pick1 C T 15: 79,129,501 (GRCm39) H169Y probably benign Het
Prtg T A 9: 72,750,089 (GRCm39) F164L probably benign Het
Pygb A G 2: 150,659,583 (GRCm39) D422G possibly damaging Het
Samd9l C A 6: 3,375,761 (GRCm39) C500F probably benign Het
Sbno1 A C 5: 124,522,567 (GRCm39) N1083K possibly damaging Het
Septin7 C T 9: 25,188,900 (GRCm39) S77F probably damaging Het
Slc25a44 A G 3: 88,323,314 (GRCm39) V264A possibly damaging Het
Slf2 G T 19: 44,930,512 (GRCm39) E530* probably null Het
Svs5 A G 2: 164,079,578 (GRCm39) S110P possibly damaging Het
Tmbim7 G T 5: 3,715,338 (GRCm39) probably null Het
Tpgs2 T C 18: 25,273,630 (GRCm39) D177G probably damaging Het
Uba1y T A Y: 826,893 (GRCm39) F516L probably damaging Het
Ulk1 A G 5: 110,943,632 (GRCm39) V211A probably damaging Het
Vmn1r237 T A 17: 21,534,301 (GRCm39) I8N probably damaging Het
Vmn2r103 G T 17: 20,014,496 (GRCm39) M429I probably benign Het
Vmn2r112 T C 17: 22,833,989 (GRCm39) probably null Het
Vmn2r84 T C 10: 130,227,349 (GRCm39) probably null Het
Vwa8 C T 14: 79,145,670 (GRCm39) R116C probably damaging Het
Other mutations in Slco1a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01354:Slco1a8 APN 6 141,936,134 (GRCm39) missense probably benign 0.00
IGL01548:Slco1a8 APN 6 141,938,238 (GRCm39) missense possibly damaging 0.82
IGL01552:Slco1a8 APN 6 141,933,432 (GRCm39) missense possibly damaging 0.54
IGL02207:Slco1a8 APN 6 141,936,158 (GRCm39) missense possibly damaging 0.80
IGL02227:Slco1a8 APN 6 141,939,401 (GRCm39) nonsense probably null
IGL02547:Slco1a8 APN 6 141,936,116 (GRCm39) missense probably damaging 0.99
IGL02678:Slco1a8 APN 6 141,954,444 (GRCm39) missense probably damaging 1.00
IGL02695:Slco1a8 APN 6 141,933,486 (GRCm39) missense probably damaging 1.00
IGL02851:Slco1a8 APN 6 141,949,197 (GRCm39) missense probably damaging 1.00
IGL02881:Slco1a8 APN 6 141,917,969 (GRCm39) missense probably benign 0.00
IGL02898:Slco1a8 APN 6 141,940,023 (GRCm39) missense probably benign 0.01
IGL03036:Slco1a8 APN 6 141,954,333 (GRCm39) missense possibly damaging 0.69
IGL03065:Slco1a8 APN 6 141,938,228 (GRCm39) missense probably damaging 0.99
IGL03300:Slco1a8 APN 6 141,940,532 (GRCm39) missense probably damaging 0.96
R0020:Slco1a8 UTSW 6 141,918,076 (GRCm39) missense possibly damaging 0.93
R0020:Slco1a8 UTSW 6 141,918,076 (GRCm39) missense possibly damaging 0.93
R0049:Slco1a8 UTSW 6 141,936,147 (GRCm39) missense probably benign
R0049:Slco1a8 UTSW 6 141,936,147 (GRCm39) missense probably benign
R0149:Slco1a8 UTSW 6 141,938,203 (GRCm39) missense probably benign 0.01
R0270:Slco1a8 UTSW 6 141,918,137 (GRCm39) missense possibly damaging 0.88
R0360:Slco1a8 UTSW 6 141,928,053 (GRCm39) splice site probably benign
R0420:Slco1a8 UTSW 6 141,931,203 (GRCm39) splice site probably benign
R0737:Slco1a8 UTSW 6 141,949,154 (GRCm39) missense possibly damaging 0.79
R1344:Slco1a8 UTSW 6 141,931,344 (GRCm39) missense probably damaging 1.00
R1464:Slco1a8 UTSW 6 141,938,243 (GRCm39) nonsense probably null
R1464:Slco1a8 UTSW 6 141,938,243 (GRCm39) nonsense probably null
R1666:Slco1a8 UTSW 6 141,927,775 (GRCm39) splice site probably null
R1669:Slco1a8 UTSW 6 141,933,415 (GRCm39) missense probably benign 0.39
R1862:Slco1a8 UTSW 6 141,949,149 (GRCm39) missense possibly damaging 0.95
R1882:Slco1a8 UTSW 6 141,939,363 (GRCm39) critical splice donor site probably null
R2134:Slco1a8 UTSW 6 141,926,704 (GRCm39) missense probably damaging 1.00
R2155:Slco1a8 UTSW 6 141,926,670 (GRCm39) missense probably damaging 1.00
R2163:Slco1a8 UTSW 6 141,926,664 (GRCm39) missense possibly damaging 0.55
R2227:Slco1a8 UTSW 6 141,938,087 (GRCm39) missense possibly damaging 0.67
R2382:Slco1a8 UTSW 6 141,936,206 (GRCm39) missense probably benign 0.00
R3773:Slco1a8 UTSW 6 141,918,061 (GRCm39) missense probably benign 0.17
R4869:Slco1a8 UTSW 6 141,933,492 (GRCm39) missense probably damaging 1.00
R4975:Slco1a8 UTSW 6 141,926,599 (GRCm39) missense probably benign 0.30
R5061:Slco1a8 UTSW 6 141,954,414 (GRCm39) missense probably benign 0.03
R5079:Slco1a8 UTSW 6 141,918,073 (GRCm39) missense probably benign 0.00
R5312:Slco1a8 UTSW 6 141,918,058 (GRCm39) missense probably benign 0.00
R5691:Slco1a8 UTSW 6 141,940,581 (GRCm39) nonsense probably null
R5874:Slco1a8 UTSW 6 141,917,961 (GRCm39) missense probably benign 0.00
R5945:Slco1a8 UTSW 6 141,940,008 (GRCm39) missense probably damaging 1.00
R6478:Slco1a8 UTSW 6 141,939,368 (GRCm39) missense possibly damaging 0.93
R7305:Slco1a8 UTSW 6 141,938,220 (GRCm39) missense probably damaging 1.00
R7325:Slco1a8 UTSW 6 141,934,951 (GRCm39) missense probably damaging 0.98
R7427:Slco1a8 UTSW 6 141,949,234 (GRCm39) critical splice acceptor site probably null
R7728:Slco1a8 UTSW 6 141,933,436 (GRCm39) nonsense probably null
R7949:Slco1a8 UTSW 6 141,939,991 (GRCm39) missense probably damaging 1.00
R8079:Slco1a8 UTSW 6 141,933,460 (GRCm39) missense probably benign 0.00
R8095:Slco1a8 UTSW 6 141,933,415 (GRCm39) missense probably benign 0.39
R8472:Slco1a8 UTSW 6 141,949,115 (GRCm39) missense probably damaging 1.00
R8687:Slco1a8 UTSW 6 141,939,991 (GRCm39) missense probably damaging 0.98
R8788:Slco1a8 UTSW 6 141,933,570 (GRCm39) missense probably benign 0.00
R8869:Slco1a8 UTSW 6 141,927,810 (GRCm39) missense probably damaging 0.96
R9162:Slco1a8 UTSW 6 141,939,453 (GRCm39) missense probably damaging 1.00
R9262:Slco1a8 UTSW 6 141,926,594 (GRCm39) missense probably damaging 0.98
R9280:Slco1a8 UTSW 6 141,939,978 (GRCm39) missense possibly damaging 0.80
R9398:Slco1a8 UTSW 6 141,940,511 (GRCm39) missense possibly damaging 0.95
R9600:Slco1a8 UTSW 6 141,949,234 (GRCm39) critical splice acceptor site probably null
RF021:Slco1a8 UTSW 6 141,954,440 (GRCm39) missense probably damaging 0.98
Z1176:Slco1a8 UTSW 6 141,936,074 (GRCm39) missense probably benign 0.01
Z1177:Slco1a8 UTSW 6 141,939,928 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCAAGATACAGCTCTCCTCCGCTAC -3'
(R):5'- ACGCACAGCTTTCATTTGTTGTGATTT -3'

Sequencing Primer
(F):5'- gtacaggggaacgccag -3'
(R):5'- CCTAAAAGTAAGCTGTGAGCATTTG -3'
Posted On 2014-04-24