Incidental Mutation 'IGL01713:Slco1a6'
ID 104857
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, organic anion-transporting polypeptide, 4930422F19Rik, Oatp-5
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock # IGL01713
Quality Score
Status
Chromosome 6
Chromosomal Location 142085761-142208521 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 142086567 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 611 (S611P)
Ref Sequence ENSEMBL: ENSMUSP00000107458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111827]
AlphaFold Q99J94
Predicted Effect possibly damaging
Transcript: ENSMUST00000111827
AA Change: S611P

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: S611P

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 131,139,043 I148T possibly damaging Het
Aipl1 A G 11: 72,036,623 C89R probably damaging Het
Apaf1 G A 10: 91,061,832 probably benign Het
Atp7b A G 8: 22,028,573 V83A probably damaging Het
Ccdc180 G T 4: 45,921,025 probably null Het
Crebbp T C 16: 4,128,648 I418V possibly damaging Het
Cyp26b1 G A 6: 84,574,301 P427L probably benign Het
Dnal4 A G 15: 79,762,405 Y92H probably damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Epha3 G A 16: 63,552,562 T926I probably benign Het
Fgg T C 3: 83,008,416 S55P probably benign Het
Gosr1 A T 11: 76,754,756 M66K probably benign Het
Igkv12-89 G T 6: 68,835,312 probably benign Het
Map3k12 T C 15: 102,502,321 E451G probably damaging Het
Phkg1 T C 5: 129,866,873 E179G probably benign Het
Pnpla1 A T 17: 28,881,605 D482V possibly damaging Het
Pramel1 T C 4: 143,397,082 V109A probably benign Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Pus7l T C 15: 94,531,612 T442A probably benign Het
Sall3 A G 18: 80,969,847 S1125P probably damaging Het
Scyl2 A C 10: 89,654,225 I150S probably damaging Het
Sf1 T A 19: 6,374,289 probably null Het
Vmn2r103 G T 17: 19,794,068 C374F probably damaging Het
Xntrpc T C 7: 102,083,852 probably benign 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
IGL01693:Slco1a6 APN 6 142133209 nonsense probably null
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
R8768:Slco1a6 UTSW 6 142133171 missense probably benign 0.01
R8957:Slco1a6 UTSW 6 142145767 missense probably damaging 0.99
R9090:Slco1a6 UTSW 6 142089849 missense probably damaging 1.00
R9271:Slco1a6 UTSW 6 142089849 missense probably damaging 1.00
Posted On 2014-01-21