Incidental Mutation 'IGL02227:Slco1a8'
ID 285583
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 # IGL02227
Quality Score
Status
Chromosome 6
Chromosomal Location 141917571-141957140 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 141939401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 197 (C197*)
Ref Sequence ENSEMBL: ENSMUSP00000137696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]
AlphaFold M0QWR8
Predicted Effect probably null
Transcript: ENSMUST00000111832
AA Change: C197*
SMART Domains Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: C197*

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 probably null
Transcript: ENSMUST00000181628
AA Change: C217*
SMART Domains Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: C217*

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 null
Transcript: ENSMUST00000181791
AA Change: C197*
SMART Domains Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: C197*

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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 A G 8: 46,987,402 (GRCm39) E662G probably benign Het
Acss3 A G 10: 106,881,196 (GRCm39) S262P probably benign Het
Agap1 T C 1: 89,591,497 (GRCm39) V263A probably damaging Het
Ap3b2 A G 7: 81,123,152 (GRCm39) L454P probably damaging Het
Arrdc1 A T 2: 24,816,164 (GRCm39) F280I possibly damaging Het
Atp8b1 G T 18: 64,695,261 (GRCm39) H485N probably benign Het
Atrip A G 9: 108,890,732 (GRCm39) S91P possibly damaging Het
Bcorl1 T C X: 47,458,237 (GRCm39) V590A probably benign Het
Brf1 C A 12: 112,925,394 (GRCm39) R590S probably damaging Het
Ccdc18 A T 5: 108,296,788 (GRCm39) D197V possibly damaging Het
Ccr6 T C 17: 8,475,284 (GRCm39) V163A probably damaging Het
Cct6b T C 11: 82,632,217 (GRCm39) E257G probably damaging Het
Cdc42bpa A G 1: 179,921,989 (GRCm39) D564G possibly damaging Het
Cdh2 C T 18: 16,762,643 (GRCm39) V434I probably benign Het
Cfap410 A G 10: 77,818,784 (GRCm39) N152D possibly damaging Het
Cltc C T 11: 86,588,166 (GRCm39) V1610M possibly damaging Het
Cnot4 A G 6: 35,028,198 (GRCm39) F473L probably benign Het
Dock3 T C 9: 106,939,254 (GRCm39) K165E probably damaging Het
Duox2 A T 2: 122,115,634 (GRCm39) probably benign Het
Epha7 A G 4: 28,821,587 (GRCm39) S251G possibly damaging Het
Epn1 T A 7: 5,098,035 (GRCm39) V282E probably benign Het
Fat1 T C 8: 45,476,696 (GRCm39) L1914P probably damaging Het
Fbln2 T C 6: 91,233,349 (GRCm39) I611T possibly damaging Het
Fgd6 G T 10: 93,969,946 (GRCm39) M1198I probably damaging Het
Frmpd4 T A X: 166,275,931 (GRCm39) I379F probably damaging Het
Grk4 T A 5: 34,852,126 (GRCm39) D123E probably benign Het
Hc T G 2: 34,899,923 (GRCm39) probably benign Het
Hephl1 T C 9: 14,981,089 (GRCm39) Y781C probably damaging Het
Hfe T C 13: 23,890,926 (GRCm39) E71G probably benign Het
Hk1 A G 10: 62,116,919 (GRCm39) probably benign Het
Ifnk G A 4: 35,152,642 (GRCm39) probably benign Het
Kcnv1 C A 15: 44,977,670 (GRCm39) G123C probably damaging Het
Klhl38 A T 15: 58,186,633 (GRCm39) I32N possibly damaging Het
Lpl T C 8: 69,348,452 (GRCm39) V227A probably damaging Het
Lurap1l A T 4: 80,872,094 (GRCm39) S196C probably damaging Het
Mta1 T C 12: 113,084,528 (GRCm39) L91P possibly damaging Het
Nelfe C A 17: 35,073,330 (GRCm39) D288E probably benign Het
Or5p1 T A 7: 107,916,408 (GRCm39) C102* probably null Het
Otof T C 5: 30,528,128 (GRCm39) E1905G probably damaging Het
Pck2 T C 14: 55,781,323 (GRCm39) I148T probably benign Het
Plcl2 G T 17: 50,913,425 (GRCm39) V145F probably damaging Het
Plec A G 15: 76,056,474 (GRCm39) S4510P probably damaging Het
Plxna2 A G 1: 194,434,397 (GRCm39) E641G probably damaging Het
Poglut3 T C 9: 53,299,779 (GRCm39) L96S probably damaging Het
Ppp1r12a C T 10: 108,105,185 (GRCm39) T434M probably damaging Het
Ppp6r3 A T 19: 3,568,245 (GRCm39) N184K possibly damaging Het
Prkar1a G A 11: 109,551,001 (GRCm39) probably benign Het
Psmb1 A T 17: 15,710,546 (GRCm39) M1K probably null Het
Pwwp2a T C 11: 43,596,448 (GRCm39) S538P possibly damaging Het
Rbm25 C T 12: 83,719,527 (GRCm39) R516W probably damaging Het
Rnf103 A G 6: 71,487,172 (GRCm39) D601G probably benign Het
Senp3 A G 11: 69,565,356 (GRCm39) V467A possibly damaging Het
Slc8a3 T G 12: 81,362,457 (GRCm39) T121P probably damaging Het
Srrt G A 5: 137,294,536 (GRCm39) T790M probably damaging Het
Ssc5d T C 7: 4,936,453 (GRCm39) probably null Het
Tas2r129 G A 6: 132,928,357 (GRCm39) W98* probably null Het
Thoc5 A C 11: 4,876,217 (GRCm39) M609L probably benign Het
Tnip1 G A 11: 54,827,297 (GRCm39) T155M possibly damaging Het
Ttn A G 2: 76,618,672 (GRCm39) V14458A probably benign Het
Unc5cl A G 17: 48,766,809 (GRCm39) E61G probably benign Het
Usp32 T C 11: 84,877,307 (GRCm39) K151E probably damaging Het
Vmn2r121 T C X: 123,042,378 (GRCm39) M260V probably benign Het
Vwa7 G T 17: 35,239,060 (GRCm39) R345L probably damaging Het
Zfp366 G T 13: 99,370,696 (GRCm39) R472L possibly damaging Het
Zfp811 A T 17: 33,017,616 (GRCm39) Y141* probably null Het
Zpbp C T 11: 11,365,248 (GRCm39) E200K probably benign 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
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 2015-04-16