Incidental Mutation 'IGL02003:Slco6d1'
ID182195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco6d1
Ensembl Gene ENSMUSG00000026336
Gene Namesolute carrier organic anion transporter family, member 6d1
Synonyms4921511I05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #IGL02003
Quality Score
Status
Chromosome1
Chromosomal Location98421124-98516991 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 98480768 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 463 (I463N)
Ref Sequence ENSEMBL: ENSMUSP00000123850 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027575] [ENSMUST00000160796] [ENSMUST00000162468]
Predicted Effect probably damaging
Transcript: ENSMUST00000027575
AA Change: I463N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027575
Gene: ENSMUSG00000026336
AA Change: I463N

DomainStartEndE-ValueType
Pfam:MFS_1 86 463 1.8e-13 PFAM
KAZAL 483 527 2.3e0 SMART
low complexity region 558 572 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000160796
AA Change: I463N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123850
Gene: ENSMUSG00000026336
AA Change: I463N

DomainStartEndE-ValueType
Pfam:MFS_1 86 463 2.4e-13 PFAM
KAZAL 483 527 2.3e0 SMART
low complexity region 558 572 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162468
SMART Domains Protein: ENSMUSP00000125258
Gene: ENSMUSG00000026336

DomainStartEndE-ValueType
Pfam:OATP 64 313 2.1e-27 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930449E01Rik A G 14: 105,498,958 noncoding transcript Het
Adam1b G A 5: 121,501,291 L564F probably damaging Het
Alms1 C T 6: 85,622,223 P1344S possibly damaging Het
Cnnm2 G T 19: 46,868,559 G699W probably damaging Het
Crybg2 A G 4: 134,072,456 K309R probably benign Het
Csnk2a1 C T 2: 152,276,970 R333* probably null Het
Eif3m C T 2: 105,012,843 probably benign Het
Fgfr2 T C 7: 130,219,072 D244G probably damaging Het
H2-Q10 A G 17: 35,470,441 I47V probably benign Het
Hmcn2 C T 2: 31,428,982 T3898I possibly damaging Het
Isyna1 G A 8: 70,596,757 V440M possibly damaging Het
Itpr3 A G 17: 27,121,475 K2654E probably damaging Het
Lrrd1 C T 5: 3,849,857 T54I probably damaging Het
Lrrk2 G A 15: 91,731,491 V843M probably damaging Het
Morc2b A T 17: 33,138,324 V158D probably benign Het
Mroh7 T C 4: 106,702,529 T734A probably damaging Het
Mylk3 T C 8: 85,359,098 D136G probably benign Het
Nos1 T C 5: 117,905,465 S602P probably damaging Het
Nsmaf T C 4: 6,418,522 I428V probably benign Het
Nup93 T G 8: 94,302,109 Y323* probably null Het
Olfr203 G A 16: 59,303,633 G161D probably damaging Het
Olfr836 A T 9: 19,121,065 M34L probably benign Het
Olfr914 C T 9: 38,606,840 A125V probably damaging Het
Ppm1m C A 9: 106,199,157 G13W probably damaging Het
Prok1 T G 3: 107,235,663 H75P probably damaging Het
Ptprb A T 10: 116,367,505 I1774F probably damaging Het
Rasl10b A T 11: 83,417,853 E73V probably damaging Het
Rhbdl3 A G 11: 80,337,516 T271A possibly damaging Het
Serpina3a A G 12: 104,116,000 M11V probably benign Het
Setdb2 T C 14: 59,413,490 E464G probably damaging Het
Slc8a1 A G 17: 81,428,196 I749T possibly damaging Het
Sncb A T 13: 54,762,930 V51E probably damaging Het
Stk32c A G 7: 139,188,153 S71P possibly damaging Het
Tet1 A G 10: 62,816,400 V1613A possibly damaging Het
Vmn2r91 T A 17: 18,107,659 I505K probably benign Het
Zfp110 A T 7: 12,849,905 K827* probably null Het
Zfp438 A T 18: 5,214,503 C152S probably benign Het
Other mutations in Slco6d1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00420:Slco6d1 APN 1 98432230 splice site probably null
IGL00678:Slco6d1 APN 1 98496344 missense probably benign 0.01
IGL00790:Slco6d1 APN 1 98421200 utr 5 prime probably benign
IGL01694:Slco6d1 APN 1 98499845 missense probably damaging 1.00
IGL02059:Slco6d1 APN 1 98446806 missense possibly damaging 0.95
IGL02085:Slco6d1 APN 1 98443743 missense probably damaging 1.00
IGL02683:Slco6d1 APN 1 98480672 missense probably benign 0.05
IGL02736:Slco6d1 APN 1 98428311 missense possibly damaging 0.55
IGL03279:Slco6d1 APN 1 98466680 missense probably damaging 1.00
PIT4581001:Slco6d1 UTSW 1 98423325 missense possibly damaging 0.46
R0326:Slco6d1 UTSW 1 98490634 missense probably benign 0.02
R0359:Slco6d1 UTSW 1 98466697 missense probably benign 0.21
R0554:Slco6d1 UTSW 1 98466697 missense probably benign 0.21
R0589:Slco6d1 UTSW 1 98499747 splice site probably benign
R0733:Slco6d1 UTSW 1 98428269 nonsense probably null
R0883:Slco6d1 UTSW 1 98421399 missense probably benign 0.00
R1316:Slco6d1 UTSW 1 98466793 missense probably benign 0.02
R1370:Slco6d1 UTSW 1 98423094 missense probably benign 0.01
R1401:Slco6d1 UTSW 1 98490616 missense probably damaging 1.00
R1691:Slco6d1 UTSW 1 98507567 missense probably benign 0.34
R1740:Slco6d1 UTSW 1 98428372 missense probably damaging 1.00
R1767:Slco6d1 UTSW 1 98490549 missense possibly damaging 0.90
R1827:Slco6d1 UTSW 1 98421216 missense probably damaging 0.96
R2138:Slco6d1 UTSW 1 98443660 missense probably benign 0.19
R2849:Slco6d1 UTSW 1 98466716 missense probably benign 0.02
R3753:Slco6d1 UTSW 1 98499777 missense probably damaging 0.99
R4066:Slco6d1 UTSW 1 98463846 critical splice acceptor site probably benign
R4429:Slco6d1 UTSW 1 98496366 missense possibly damaging 0.66
R4480:Slco6d1 UTSW 1 98507574 nonsense probably null
R4656:Slco6d1 UTSW 1 98423203 missense probably benign 0.06
R4810:Slco6d1 UTSW 1 98423254 missense possibly damaging 0.83
R4814:Slco6d1 UTSW 1 98423174 missense probably benign 0.15
R5389:Slco6d1 UTSW 1 98443644 missense probably benign 0.00
R5504:Slco6d1 UTSW 1 98421339 missense probably damaging 0.99
R5619:Slco6d1 UTSW 1 98496222 missense probably damaging 1.00
R5688:Slco6d1 UTSW 1 98480768 missense probably damaging 1.00
R5820:Slco6d1 UTSW 1 98499778 missense probably damaging 0.97
R5878:Slco6d1 UTSW 1 98463836 splice site probably benign
R6261:Slco6d1 UTSW 1 98499863 missense probably benign 0.10
R6450:Slco6d1 UTSW 1 98421467 missense probably benign 0.29
R6452:Slco6d1 UTSW 1 98421212 missense probably benign 0.44
R7338:Slco6d1 UTSW 1 98421372 missense probably benign 0.11
R7375:Slco6d1 UTSW 1 98421447 missense probably damaging 1.00
R7456:Slco6d1 UTSW 1 98421357 missense possibly damaging 0.66
R7567:Slco6d1 UTSW 1 98497527 missense probably damaging 1.00
R7729:Slco6d1 UTSW 1 98497523 missense probably damaging 0.98
Posted On2014-05-07