Incidental Mutation 'IGL01548:Slco1a8'
ID 93206
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco1a8
Ensembl Gene ENSMUSG00000079263
Gene Name solute carrier organic anion transporter family, member 1a8
Synonyms Gm6614
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # IGL01548
Quality Score
Status
Chromosome 6
Chromosomal Location 141917571-141957140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 141938238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 227 (I227T)
Ref Sequence ENSEMBL: ENSMUSP00000137696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]
AlphaFold M0QWR8
Predicted Effect possibly damaging
Transcript: ENSMUST00000111832
AA Change: I227T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: I227T

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 possibly damaging
Transcript: ENSMUST00000181628
AA Change: I247T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: I247T

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 possibly damaging
Transcript: ENSMUST00000181791
AA Change: I227T

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: I227T

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot3 C T 12: 84,103,863 (GRCm39) T224I probably benign Het
Adamts18 C T 8: 114,490,931 (GRCm39) G512E probably damaging Het
Atp4b A G 8: 13,439,679 (GRCm39) I181T probably damaging Het
Bcl11a A G 11: 24,113,346 (GRCm39) I230V probably benign Het
Cenpj C A 14: 56,769,776 (GRCm39) V1138L probably benign Het
Cep78 A G 19: 15,958,564 (GRCm39) probably benign Het
Clec2j T A 6: 128,632,941 (GRCm39) noncoding transcript Het
Col5a3 T C 9: 20,714,296 (GRCm39) probably benign Het
Cpne6 A T 14: 55,750,183 (GRCm39) T105S probably damaging Het
Csmd1 A T 8: 16,338,660 (GRCm39) Y482* probably null Het
Ctrl C A 8: 106,659,890 (GRCm39) probably benign Het
Dhcr24 T A 4: 106,431,068 (GRCm39) C252* probably null Het
Dnaaf9 T C 2: 130,656,179 (GRCm39) N110D probably damaging Het
Dnah17 G A 11: 117,989,438 (GRCm39) P1261S probably benign Het
Dnai2 T C 11: 114,643,768 (GRCm39) L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 (GRCm39) F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,433,134 (GRCm39) S191A probably damaging Het
Fat4 G A 3: 39,063,406 (GRCm39) C4454Y probably damaging Het
Fat4 T C 3: 38,941,907 (GRCm39) S267P probably damaging Het
Frrs1 T C 3: 116,678,834 (GRCm39) C219R probably damaging Het
Gabra6 T A 11: 42,207,850 (GRCm39) Q207L probably damaging Het
Gm19668 A T 10: 77,634,242 (GRCm39) C242* probably null Het
Gm2840 G A 5: 96,322,136 (GRCm39) noncoding transcript Het
Gmcl1p1 G A X: 3,078,226 (GRCm39) G423S probably benign Het
Golim4 C T 3: 75,815,432 (GRCm39) probably null Het
Gucy1b1 G T 3: 81,942,169 (GRCm39) T530K probably damaging Het
Hacl1 A T 14: 31,362,553 (GRCm39) D31E possibly damaging Het
Hectd4 A G 5: 121,502,723 (GRCm39) T4276A possibly damaging Het
Henmt1 T C 3: 108,850,095 (GRCm39) I26T probably damaging Het
Hspa1l G A 17: 35,197,367 (GRCm39) A469T probably damaging Het
Htra3 T A 5: 35,821,420 (GRCm39) probably null Het
Lrrc28 C A 7: 67,278,042 (GRCm39) probably null Het
Mfhas1 T C 8: 36,057,613 (GRCm39) L696P probably damaging Het
Mios A G 6: 8,234,252 (GRCm39) K808E possibly damaging Het
Mtnr1b A G 9: 15,774,496 (GRCm39) Y188H probably damaging Het
Myom1 A G 17: 71,408,215 (GRCm39) probably benign Het
Naca A T 10: 127,876,773 (GRCm39) probably benign Het
Nckap1l T A 15: 103,371,147 (GRCm39) V213D probably benign Het
Ndufa6 C T 15: 82,238,282 (GRCm39) V50M possibly damaging Het
Or4c35 T A 2: 89,808,883 (GRCm39) F254I possibly damaging Het
Or5b111 A G 19: 13,291,350 (GRCm39) F100L possibly damaging Het
Or5g23 A G 2: 85,439,105 (GRCm39) W50R probably benign Het
Or8b56 A G 9: 38,739,646 (GRCm39) T220A probably benign Het
Or8k53 T A 2: 86,178,077 (GRCm39) Y11F possibly damaging Het
Osbpl1a T C 18: 12,896,632 (GRCm39) Y311C probably damaging Het
Parp11 A C 6: 127,468,562 (GRCm39) Y204S probably damaging Het
Pla2g4a A G 1: 149,808,407 (GRCm39) probably null Het
Plec T C 15: 76,073,458 (GRCm39) R519G probably benign Het
Ppp2r5c T A 12: 110,534,261 (GRCm39) Y375N probably benign Het
Prss35 C A 9: 86,637,327 (GRCm39) S32R probably benign Het
Prss57 C T 10: 79,621,581 (GRCm39) probably benign Het
Ptprc A C 1: 138,027,219 (GRCm39) probably null Het
Rims1 A G 1: 22,577,683 (GRCm39) C188R probably damaging Het
Ripk4 G T 16: 97,552,696 (GRCm39) Y144* probably null Het
Rpgrip1 A T 14: 52,363,728 (GRCm39) probably benign Het
Rps6ka4 A G 19: 6,809,691 (GRCm39) V378A probably benign Het
Rtf1 A G 2: 119,542,589 (GRCm39) K298E probably benign Het
Sdk1 T C 5: 142,071,520 (GRCm39) F1237L possibly damaging Het
Slc40a1 T C 1: 45,948,652 (GRCm39) K543E probably benign Het
Sorcs3 A T 19: 48,782,607 (GRCm39) I1041F possibly damaging Het
Spata31e4 A G 13: 50,854,414 (GRCm39) T91A probably benign Het
Spata31f3 T C 4: 42,868,564 (GRCm39) E353G probably benign Het
Taok3 T C 5: 117,410,262 (GRCm39) M818T probably benign Het
Tas2r119 T A 15: 32,178,123 (GRCm39) F230I probably damaging Het
Tbc1d8 T C 1: 39,420,385 (GRCm39) D716G probably damaging Het
Tfg A G 16: 56,521,465 (GRCm39) S58P probably damaging Het
Thnsl1 A G 2: 21,217,943 (GRCm39) I45V probably damaging Het
Tle1 A G 4: 72,088,955 (GRCm39) L96P probably damaging Het
Tmem260 A C 14: 48,717,782 (GRCm39) S276R possibly damaging Het
Utp20 A G 10: 88,600,643 (GRCm39) S24P probably damaging Het
Vcam1 T C 3: 115,909,600 (GRCm39) I576V probably benign Het
Vmn1r27 G T 6: 58,192,538 (GRCm39) N105K probably benign Het
Vmn2r12 A C 5: 109,240,893 (GRCm39) Y73* probably null Het
Vmn2r86 T C 10: 130,282,151 (GRCm39) I822V probably benign Het
Wdr6 C T 9: 108,452,096 (GRCm39) V596I possibly damaging Het
Zfp946 A T 17: 22,673,643 (GRCm39) K132N possibly damaging Het
Other mutations in Slco1a8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01354:Slco1a8 APN 6 141,936,134 (GRCm39) missense probably benign 0.00
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
R1590:Slco1a8 UTSW 6 141,926,598 (GRCm39) missense probably benign 0.00
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
Posted On 2013-12-09