Incidental Mutation 'IGL01693:Slco1a6'
ID104169
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco1a6
Ensembl Gene ENSMUSG00000079262
Gene Namesolute carrier organic anion transporter family, member 1a6
SynonymsSlc21a13, organic anion-transporting polypeptide, 4930422F19Rik, Oatp-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock #IGL01693
Quality Score
Status
Chromosome6
Chromosomal Location142085761-142208521 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 142133209 bp
ZygosityHeterozygous
Amino Acid Change Serine to Stop codon at position 120 (S120*)
Ref Sequence ENSEMBL: ENSMUSP00000107458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111827]
Predicted Effect probably null
Transcript: ENSMUST00000111827
AA Change: S120*
SMART Domains Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: S120*

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3830406C13Rik T C 14: 12,287,380 L55P probably damaging Het
Akr1b8 T A 6: 34,363,336 M145K possibly damaging Het
Arhgap39 T C 15: 76,725,967 D943G probably null Het
Arhgap42 A T 9: 9,006,506 W630R probably damaging Het
Bbs5 T A 2: 69,663,080 S225T probably benign Het
Cacna1f A T X: 7,625,367 N1159Y probably damaging Het
Catsperg1 A G 7: 29,185,098 probably benign Het
Cep97 A T 16: 55,930,594 W20R probably damaging Het
Cmtm8 G A 9: 114,789,705 T160M probably damaging Het
Csf2ra A G 19: 61,225,996 S244P possibly damaging Het
Dnah7b C T 1: 46,358,147 P3913S probably benign Het
Ezh1 C T 11: 101,215,258 M100I probably benign Het
Gadl1 C A 9: 115,949,585 P189Q probably damaging Het
Gcnt2 G A 13: 40,888,073 S236N probably benign Het
Gm17689 G A 9: 36,581,366 T81I probably benign Het
H1fnt A C 15: 98,256,381 Y296D unknown Het
Hmcn1 T A 1: 150,583,280 D5191V probably damaging Het
Mycbp2 A T 14: 103,127,979 D4194E probably damaging Het
Ncf2 C A 1: 152,824,323 T203K probably benign Het
Olfr76 C A 19: 12,120,557 V40L probably benign Het
Phf8 T A X: 151,550,875 V113E probably damaging Het
Pkm G T 9: 59,670,522 K207N probably damaging Het
Sox10 C T 15: 79,156,273 V195M possibly damaging Het
Swt1 A G 1: 151,422,104 I24T probably benign Het
Thada T C 17: 84,446,644 T300A probably benign Het
Tmem2 A C 19: 21,801,887 I354L probably benign Het
Vmn2r17 T C 5: 109,452,518 Y561H probably damaging Het
Wdr78 T C 4: 103,087,330 probably null Het
Other mutations in Slco1a6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Slco1a6 APN 6 142161017 missense probably benign 0.00
IGL00430:Slco1a6 APN 6 142101651 nonsense probably null
IGL00541:Slco1a6 APN 6 142096299 missense possibly damaging 0.67
IGL01340:Slco1a6 APN 6 142109383 missense possibly damaging 0.71
IGL01713:Slco1a6 APN 6 142086567 missense possibly damaging 0.87
IGL01828:Slco1a6 APN 6 142096411 missense probably damaging 1.00
IGL02049:Slco1a6 APN 6 142101583 splice site probably benign
IGL02085:Slco1a6 APN 6 142086474 missense probably benign 0.00
IGL02245:Slco1a6 APN 6 142109424 missense probably damaging 1.00
IGL02549:Slco1a6 APN 6 142096415 splice site probably benign
IGL02698:Slco1a6 APN 6 142103011 nonsense probably null
IGL02948:Slco1a6 APN 6 142133235 splice site probably null
IGL03075:Slco1a6 APN 6 142103149 splice site probably benign
PIT4585001:Slco1a6 UTSW 6 142109520 missense probably damaging 0.99
R0008:Slco1a6 UTSW 6 142157222 unclassified probably benign
R0106:Slco1a6 UTSW 6 142157390 unclassified probably benign
R0106:Slco1a6 UTSW 6 142157390 unclassified probably benign
R0173:Slco1a6 UTSW 6 142103122 missense probably benign 0.10
R1642:Slco1a6 UTSW 6 142086434 missense probably benign 0.00
R1939:Slco1a6 UTSW 6 142133230 missense probably damaging 1.00
R2256:Slco1a6 UTSW 6 142091016 missense probably benign 0.04
R2257:Slco1a6 UTSW 6 142091016 missense probably benign 0.04
R2696:Slco1a6 UTSW 6 142112936 missense probably damaging 1.00
R2902:Slco1a6 UTSW 6 142096320 missense probably damaging 1.00
R4602:Slco1a6 UTSW 6 142101652 missense probably benign 0.00
R4611:Slco1a6 UTSW 6 142101652 missense probably benign 0.00
R4958:Slco1a6 UTSW 6 142145705 missense probably damaging 1.00
R5256:Slco1a6 UTSW 6 142132701 missense probably benign 0.39
R5347:Slco1a6 UTSW 6 142086599 missense probably damaging 0.98
R6130:Slco1a6 UTSW 6 142086429 missense probably benign 0.26
R6384:Slco1a6 UTSW 6 142109379 missense probably benign 0.01
R6543:Slco1a6 UTSW 6 142133146 missense probably benign 0.00
R6662:Slco1a6 UTSW 6 142133215 missense probably damaging 0.97
R6687:Slco1a6 UTSW 6 142099350 missense possibly damaging 0.91
R6702:Slco1a6 UTSW 6 142103100 missense probably damaging 0.99
R7012:Slco1a6 UTSW 6 142086561 missense probably benign 0.02
R7140:Slco1a6 UTSW 6 142103019 missense probably benign 0.00
R7392:Slco1a6 UTSW 6 142157277 missense probably benign 0.00
R7399:Slco1a6 UTSW 6 142091068 missense probably benign 0.01
R7476:Slco1a6 UTSW 6 142103001 missense possibly damaging 0.71
R7621:Slco1a6 UTSW 6 142161017 missense probably damaging 0.96
R7633:Slco1a6 UTSW 6 142145755 missense probably damaging 1.00
R8139:Slco1a6 UTSW 6 142089900 missense probably damaging 1.00
R8177:Slco1a6 UTSW 6 142101734 missense probably damaging 1.00
Posted On2014-01-21