Incidental Mutation 'IGL01340:Slco1a6'
ID74792
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: 0.059) question?
Stock #IGL01340
Quality Score
Status
Chromosome6
Chromosomal Location142085761-142208521 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 142109383 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 278 (N278K)
Ref Sequence ENSEMBL: ENSMUSP00000107458 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111827]
Predicted Effect possibly damaging
Transcript: ENSMUST00000111827
AA Change: N278K

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: N278K

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: ENSMUST00000174516
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,971,984 E439A possibly damaging Het
Abca9 T A 11: 110,130,627 I1086L probably benign Het
Adam17 A T 12: 21,330,057 C630* probably null Het
Adgrg5 T C 8: 94,937,629 L289P probably damaging Het
Aplp1 G A 7: 30,444,418 T64I probably damaging Het
Bdh1 T A 16: 31,456,843 W261R probably damaging Het
Cadm2 A T 16: 66,784,785 I202N possibly damaging Het
Cd209c C T 8: 3,945,892 R6H probably benign Het
Cfap221 T A 1: 119,953,620 I371F possibly damaging Het
Cfap44 A G 16: 44,404,130 Y67C probably damaging Het
Cilp T C 9: 65,275,974 S387P probably damaging Het
Cnot1 T C 8: 95,760,537 D598G probably damaging Het
Col5a1 T C 2: 27,960,451 L520P unknown Het
Cpvl A T 6: 53,896,451 Y433* probably null Het
Cxcl1 G T 5: 90,891,575 C59F probably damaging Het
Cyth3 T A 5: 143,684,435 L33* probably null Het
Dnah2 T C 11: 69,493,184 K1069E probably damaging Het
Drosha T A 15: 12,834,023 probably benign Het
Fam83h T A 15: 76,004,036 D484V probably damaging Het
Igsf3 C A 3: 101,439,679 Y663* probably null Het
Kmt5c C T 7: 4,742,141 R44* probably null Het
Kxd1 T C 8: 70,515,443 probably null Het
Lars A G 18: 42,202,577 V1158A probably benign Het
Lmf2 A G 15: 89,352,872 F413S probably damaging Het
Mc4r C T 18: 66,859,158 A295T probably benign Het
Mrc1 T C 2: 14,310,084 probably null Het
Mtmr7 T C 8: 40,597,422 Y110C probably damaging Het
Myd88 A C 9: 119,337,352 probably benign Het
Ndc1 T C 4: 107,374,147 V95A probably damaging Het
Ntrk1 T A 3: 87,788,714 E163V possibly damaging Het
Olfr1208 T C 2: 88,896,977 T207A probably damaging Het
Pappa A T 4: 65,323,872 D1491V possibly damaging Het
Phc3 T A 3: 30,929,884 I673F possibly damaging Het
Pkhd1 A T 1: 20,522,977 N1637K probably benign Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rgma T C 7: 73,417,330 F111S probably damaging Het
Slfn9 A T 11: 82,981,751 F720I probably benign Het
Snd1 T A 6: 28,883,369 V741E probably benign Het
Snx6 C T 12: 54,754,309 R185Q probably damaging Het
Telo2 G A 17: 25,100,129 probably benign Het
Wdr91 A G 6: 34,904,579 S278P probably benign Het
Xab2 A T 8: 3,614,381 D277E probably damaging Het
Zbbx T C 3: 75,105,650 E158G possibly damaging 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
IGL01693:Slco1a6 APN 6 142133209 nonsense probably null
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
R8768:Slco1a6 UTSW 6 142133171 missense probably benign 0.01
R8957:Slco1a6 UTSW 6 142145767 missense probably damaging 0.99
Posted On2013-10-07