Incidental Mutation 'IGL00422:Slco1a6'
ID 5350
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco1a6
Ensembl Gene ENSMUSG00000079262
Gene Name solute carrier organic anion transporter family, member 1a6
Synonyms Slc21a13, Oatp-5, organic anion-transporting polypeptide, 4930422F19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # IGL00422
Quality Score
Status
Chromosome 6
Chromosomal Location 142031487-142131903 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 142106743 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Glycine at position 15 (C15G)
Ref Sequence ENSEMBL: ENSMUSP00000107458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111827] [ENSMUST00000174455]
AlphaFold Q99J94
Predicted Effect probably benign
Transcript: ENSMUST00000111827
AA Change: C15G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: C15G

DomainStartEndE-ValueType
Pfam:MFS_1 21 421 7.8e-26 PFAM
Pfam:OATP 21 597 1.3e-163 PFAM
Pfam:Kazal_2 445 486 2.7e-11 PFAM
transmembrane domain 600 619 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172984
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173877
Predicted Effect probably benign
Transcript: ENSMUST00000174455
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,056,618 (GRCm39) A359T probably damaging Het
Adam34l A G 8: 44,079,388 (GRCm39) F279L probably damaging Het
Ajuba A T 14: 54,809,226 (GRCm39) Y400* probably null Het
Cckar T A 5: 53,857,171 (GRCm39) D342V possibly damaging Het
Cdc123 A G 2: 5,803,260 (GRCm39) V253A probably benign Het
Cep162 T C 9: 87,109,220 (GRCm39) D461G probably benign Het
Chd7 G A 4: 8,859,106 (GRCm39) E2399K probably damaging Het
Cln8 G A 8: 14,946,637 (GRCm39) C217Y probably benign Het
Dchs1 A G 7: 105,407,236 (GRCm39) V2119A possibly damaging Het
Dhx33 T C 11: 70,892,446 (GRCm39) S108G probably benign Het
Dip2a T A 10: 76,149,070 (GRCm39) M194L probably benign Het
Dnah11 T C 12: 118,031,831 (GRCm39) K1779R probably damaging Het
Fads3 T G 19: 10,033,045 (GRCm39) F328V possibly damaging Het
Flad1 A G 3: 89,313,160 (GRCm39) probably null Het
Gm7535 G T 17: 18,132,150 (GRCm39) probably benign Het
Gnpat A G 8: 125,611,752 (GRCm39) E513G probably damaging Het
H2-M5 A G 17: 37,298,732 (GRCm39) I238T probably damaging Het
Hoxd12 G A 2: 74,505,771 (GRCm39) R114Q probably damaging Het
Ide T C 19: 37,253,931 (GRCm39) I903V unknown Het
Ifi209 T G 1: 173,466,529 (GRCm39) D120E possibly damaging Het
Map3k10 T C 7: 27,367,894 (GRCm39) D248G probably damaging Het
Mat2b C A 11: 40,578,565 (GRCm39) G41C probably damaging Het
Mfsd4a T C 1: 131,968,332 (GRCm39) I369V probably benign Het
Myom1 T A 17: 71,433,093 (GRCm39) V1480E probably damaging Het
Myom2 A T 8: 15,119,490 (GRCm39) D127V probably damaging Het
Olfml2b T A 1: 170,496,635 (GRCm39) V422E probably damaging Het
Pkn3 G A 2: 29,971,116 (GRCm39) A228T probably damaging Het
Rad17 A T 13: 100,766,033 (GRCm39) I365K probably benign Het
Rad17 A T 13: 100,766,031 (GRCm39) S366T probably damaging Het
Rpp14 G A 14: 8,083,934 (GRCm38) G30E possibly damaging Het
Spag9 T A 11: 93,988,692 (GRCm39) F571I probably benign Het
Ttc27 T A 17: 75,087,811 (GRCm39) C459S probably damaging Het
Washc2 A G 6: 116,233,637 (GRCm39) T888A probably benign Het
Zcchc7 A T 4: 44,931,318 (GRCm39) H490L possibly damaging Het
Other mutations in Slco1a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Slco1a6 APN 6 142,047,377 (GRCm39) nonsense probably null
IGL00541:Slco1a6 APN 6 142,042,025 (GRCm39) missense possibly damaging 0.67
IGL01340:Slco1a6 APN 6 142,055,109 (GRCm39) missense possibly damaging 0.71
IGL01693:Slco1a6 APN 6 142,078,935 (GRCm39) nonsense probably null
IGL01713:Slco1a6 APN 6 142,032,293 (GRCm39) missense possibly damaging 0.87
IGL01828:Slco1a6 APN 6 142,042,137 (GRCm39) missense probably damaging 1.00
IGL02049:Slco1a6 APN 6 142,047,309 (GRCm39) splice site probably benign
IGL02085:Slco1a6 APN 6 142,032,200 (GRCm39) missense probably benign 0.00
IGL02245:Slco1a6 APN 6 142,055,150 (GRCm39) missense probably damaging 1.00
IGL02549:Slco1a6 APN 6 142,042,141 (GRCm39) splice site probably benign
IGL02698:Slco1a6 APN 6 142,048,737 (GRCm39) nonsense probably null
IGL02948:Slco1a6 APN 6 142,078,961 (GRCm39) splice site probably null
IGL03075:Slco1a6 APN 6 142,048,875 (GRCm39) splice site probably benign
PIT4585001:Slco1a6 UTSW 6 142,055,246 (GRCm39) missense probably damaging 0.99
R0008:Slco1a6 UTSW 6 142,102,948 (GRCm39) unclassified probably benign
R0106:Slco1a6 UTSW 6 142,103,116 (GRCm39) unclassified probably benign
R0106:Slco1a6 UTSW 6 142,103,116 (GRCm39) unclassified probably benign
R0173:Slco1a6 UTSW 6 142,048,848 (GRCm39) missense probably benign 0.10
R1642:Slco1a6 UTSW 6 142,032,160 (GRCm39) missense probably benign 0.00
R1939:Slco1a6 UTSW 6 142,078,956 (GRCm39) missense probably damaging 1.00
R2256:Slco1a6 UTSW 6 142,036,742 (GRCm39) missense probably benign 0.04
R2257:Slco1a6 UTSW 6 142,036,742 (GRCm39) missense probably benign 0.04
R2696:Slco1a6 UTSW 6 142,058,662 (GRCm39) missense probably damaging 1.00
R2902:Slco1a6 UTSW 6 142,042,046 (GRCm39) missense probably damaging 1.00
R4602:Slco1a6 UTSW 6 142,047,378 (GRCm39) missense probably benign 0.00
R4611:Slco1a6 UTSW 6 142,047,378 (GRCm39) missense probably benign 0.00
R4958:Slco1a6 UTSW 6 142,091,431 (GRCm39) missense probably damaging 1.00
R5256:Slco1a6 UTSW 6 142,078,427 (GRCm39) missense probably benign 0.39
R5347:Slco1a6 UTSW 6 142,032,325 (GRCm39) missense probably damaging 0.98
R6130:Slco1a6 UTSW 6 142,032,155 (GRCm39) missense probably benign 0.26
R6384:Slco1a6 UTSW 6 142,055,105 (GRCm39) missense probably benign 0.01
R6543:Slco1a6 UTSW 6 142,078,872 (GRCm39) missense probably benign 0.00
R6662:Slco1a6 UTSW 6 142,078,941 (GRCm39) missense probably damaging 0.97
R6687:Slco1a6 UTSW 6 142,045,076 (GRCm39) missense possibly damaging 0.91
R6702:Slco1a6 UTSW 6 142,048,826 (GRCm39) missense probably damaging 0.99
R7012:Slco1a6 UTSW 6 142,032,287 (GRCm39) missense probably benign 0.02
R7140:Slco1a6 UTSW 6 142,048,745 (GRCm39) missense probably benign 0.00
R7392:Slco1a6 UTSW 6 142,103,003 (GRCm39) missense probably benign 0.00
R7399:Slco1a6 UTSW 6 142,036,794 (GRCm39) missense probably benign 0.01
R7476:Slco1a6 UTSW 6 142,048,727 (GRCm39) missense possibly damaging 0.71
R7621:Slco1a6 UTSW 6 142,106,743 (GRCm39) missense probably damaging 0.96
R7633:Slco1a6 UTSW 6 142,091,481 (GRCm39) missense probably damaging 1.00
R8139:Slco1a6 UTSW 6 142,035,626 (GRCm39) missense probably damaging 1.00
R8177:Slco1a6 UTSW 6 142,047,460 (GRCm39) missense probably damaging 1.00
R8768:Slco1a6 UTSW 6 142,078,897 (GRCm39) missense probably benign 0.01
R8957:Slco1a6 UTSW 6 142,091,493 (GRCm39) missense probably damaging 0.99
R9090:Slco1a6 UTSW 6 142,035,575 (GRCm39) missense probably damaging 1.00
R9271:Slco1a6 UTSW 6 142,035,575 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20