Incidental Mutation 'IGL02547:Slco1a8'
ID 297894
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 # IGL02547
Quality Score
Status
Chromosome 6
Chromosomal Location 141917571-141957140 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141936116 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 323 (L323Q)
Ref Sequence ENSEMBL: ENSMUSP00000137696 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]
AlphaFold M0QWR8
Predicted Effect probably damaging
Transcript: ENSMUST00000111832
AA Change: L323Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: L323Q

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 damaging
Transcript: ENSMUST00000181628
AA Change: L343Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: L343Q

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 damaging
Transcript: ENSMUST00000181791
AA Change: L323Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: L323Q

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap6 T A 12: 53,187,479 (GRCm39) L1631H probably damaging Het
Atf7ip T A 6: 136,580,274 (GRCm39) probably benign Het
Atp5po A T 16: 91,725,849 (GRCm39) Y48N probably damaging Het
Birc6 T G 17: 74,886,640 (GRCm39) M656R probably benign Het
Camkk1 A G 11: 72,929,259 (GRCm39) R455G probably benign Het
Casr A T 16: 36,336,036 (GRCm39) M91K probably benign Het
Ccdc28a A T 10: 18,089,894 (GRCm39) V124D possibly damaging Het
Ccnh T C 13: 85,350,623 (GRCm39) probably benign Het
Cdc37 G T 9: 21,051,262 (GRCm39) probably benign Het
Cdon A G 9: 35,389,950 (GRCm39) D868G probably damaging Het
Cstdc3 A T 16: 36,132,888 (GRCm39) probably benign Het
Cyp4f15 A G 17: 32,919,229 (GRCm39) R351G probably benign Het
Dclk3 T C 9: 111,298,091 (GRCm39) I545T probably damaging Het
Dock4 A G 12: 40,787,478 (GRCm39) M798V probably benign Het
Gas7 A T 11: 67,556,261 (GRCm39) Q200L probably damaging Het
Ica1 T C 6: 8,670,691 (GRCm39) probably null Het
Idh3a T A 9: 54,499,679 (GRCm39) V31D probably benign Het
Il3ra A T 14: 14,351,970 (GRCm38) T247S probably benign Het
Itgb7 A G 15: 102,126,945 (GRCm39) C497R probably damaging Het
Itm2c T C 1: 85,834,182 (GRCm39) Y166H probably damaging Het
Mphosph8 A G 14: 56,909,941 (GRCm39) D98G probably damaging Het
Mstn A T 1: 53,103,284 (GRCm39) I207F probably benign Het
Muc15 A G 2: 110,561,650 (GRCm39) R29G probably damaging Het
Neb T A 2: 52,078,742 (GRCm39) T142S probably damaging Het
Nipbl G A 15: 8,381,082 (GRCm39) T570I probably benign Het
Nr5a2 T A 1: 136,868,665 (GRCm39) M196L probably benign Het
Nrp1 C A 8: 129,219,512 (GRCm39) F643L probably benign Het
Or52ad1 A G 7: 102,995,451 (GRCm39) F228S probably damaging Het
Or52z15 T C 7: 103,331,973 (GRCm39) I16T probably benign Het
Or5a3 A T 19: 12,399,675 (GRCm39) M1L probably benign Het
Or8h8 A G 2: 86,753,372 (GRCm39) F168S probably damaging Het
Osbpl9 C T 4: 108,925,680 (GRCm39) W446* probably null Het
Pced1a T C 2: 130,261,627 (GRCm39) D342G possibly damaging Het
Pira13 T C 7: 3,824,660 (GRCm39) D573G probably damaging Het
Prkcd C A 14: 30,321,426 (GRCm39) W555L probably damaging Het
Prpf31 T C 7: 3,633,898 (GRCm39) S78P probably benign Het
Psg27 T C 7: 18,294,553 (GRCm39) T285A probably benign Het
Retreg3 A T 11: 100,997,204 (GRCm39) L92* probably null Het
Rmdn1 A G 4: 19,605,501 (GRCm39) K282E possibly damaging Het
Septin8 G T 11: 53,428,092 (GRCm39) R302L probably damaging Het
Serpina3a A G 12: 104,082,802 (GRCm39) I192V probably damaging Het
Sgce T C 6: 4,711,301 (GRCm39) probably benign Het
Spats1 A T 17: 45,785,743 (GRCm39) probably benign Het
Tcerg1l C T 7: 137,850,100 (GRCm39) probably null Het
Ttn A G 2: 76,559,730 (GRCm39) V21230A probably damaging Het
Ubxn11 A C 4: 133,836,895 (GRCm39) D41A possibly damaging Het
Vps13c T G 9: 67,815,301 (GRCm39) I979S possibly damaging Het
Zc3h6 T A 2: 128,857,531 (GRCm39) H683Q probably benign Het
Zfp1007 C T 5: 109,826,628 (GRCm39) probably null Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zfp629 T C 7: 127,210,846 (GRCm39) probably null 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
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