Incidental Mutation 'IGL00942:Slco1a1'
ID27646
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco1a1
Ensembl Gene ENSMUSG00000041698
Gene Namesolute carrier organic anion transporter family, member 1a1
SynonymsOatp1, Slc21a1, Oatp1a1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.258) question?
Stock #IGL00942
Quality Score
Status
Chromosome6
Chromosomal Location141907282-141946962 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 141946628 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 4 (T4I)
Ref Sequence ENSEMBL: ENSMUSP00000132386 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042119] [ENSMUST00000168119]
Predicted Effect probably benign
Transcript: ENSMUST00000042119
AA Change: T4I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: T4I

DomainStartEndE-ValueType
Pfam:OATP 21 597 6e-168 PFAM
Pfam:MFS_1 22 410 4.7e-28 PFAM
Pfam:Kazal_2 445 486 1.2e-10 PFAM
transmembrane domain 600 622 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168119
AA Change: T4I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: T4I

DomainStartEndE-ValueType
Pfam:OATP 21 597 1.6e-168 PFAM
Pfam:MFS_1 22 410 1e-27 PFAM
Pfam:Kazal_2 445 486 4.6e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171651
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic anion transporter activity and urinary metabolomic profiles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416C03Rik A G 10: 116,113,436 S62P possibly damaging Het
Arap2 A C 5: 62,698,389 L568* probably null Het
Arfgef2 G A 2: 166,885,853 V1574M probably damaging Het
Arhgef12 C T 9: 42,982,000 R969H probably damaging Het
Cacng1 A T 11: 107,704,369 F127L probably benign Het
Cntnap5c T C 17: 57,769,598 V10A probably benign Het
Crtac1 T G 19: 42,323,794 D160A probably damaging Het
Csmd3 C T 15: 47,847,106 probably null Het
Grin3a A G 4: 49,770,589 F728L probably damaging Het
Hecw1 C T 13: 14,340,740 probably benign Het
Hist1h3a T C 13: 23,761,938 probably benign Het
Iyd C T 10: 3,554,070 C239F probably damaging Het
Madd A G 2: 91,170,578 V486A probably damaging Het
Map3k7 A G 4: 32,019,539 D533G probably damaging Het
Matk A G 10: 81,258,294 D20G probably benign Het
Mphosph10 A G 7: 64,389,755 S156P probably benign Het
Mtif2 G A 11: 29,538,753 E356K probably damaging Het
Ndufb10 T C 17: 24,724,184 probably null Het
Nipal3 A T 4: 135,468,593 L233Q possibly damaging Het
Olfr860 T C 9: 19,846,259 Y120C probably damaging Het
Prss32 T A 17: 23,859,160 C273* probably null Het
Prtg T C 9: 72,892,340 S807P possibly damaging Het
Ric3 T G 7: 109,054,412 E157D probably damaging Het
Ric3 T A 7: 109,054,413 E157V probably damaging Het
Slc16a14 G A 1: 84,922,871 T131I probably damaging Het
Slc1a2 A T 2: 102,739,814 N137Y probably damaging Het
Slc25a27 T C 17: 43,664,089 I94V probably benign Het
Slf1 A T 13: 77,043,947 F923I possibly damaging Het
Ttll12 A C 15: 83,582,448 V306G possibly damaging Het
Tulp2 G A 7: 45,516,268 V97I possibly damaging Het
Vmn2r65 T G 7: 84,943,553 Q482P probably damaging Het
Wdr24 T A 17: 25,826,621 N443K probably benign Het
Other mutations in Slco1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Slco1a1 APN 6 141909125 missense probably damaging 0.98
IGL01301:Slco1a1 APN 6 141932530 splice site probably benign
IGL01306:Slco1a1 APN 6 141946587 nonsense probably null
IGL01774:Slco1a1 APN 6 141925613 nonsense probably null
IGL02097:Slco1a1 APN 6 141940039 missense possibly damaging 0.94
IGL02183:Slco1a1 APN 6 141921943 splice site probably benign
IGL02376:Slco1a1 APN 6 141924334 critical splice donor site probably null
IGL02550:Slco1a1 APN 6 141943465 missense probably benign 0.24
IGL02559:Slco1a1 APN 6 141921788 missense probably benign 0.01
IGL02825:Slco1a1 APN 6 141918617 missense probably damaging 1.00
IGL03352:Slco1a1 APN 6 141911885 missense probably benign 0.00
ANU23:Slco1a1 UTSW 6 141946587 nonsense probably null
R0041:Slco1a1 UTSW 6 141918459 splice site probably benign
R0153:Slco1a1 UTSW 6 141910701 splice site probably benign
R0610:Slco1a1 UTSW 6 141918461 critical splice donor site probably null
R0646:Slco1a1 UTSW 6 141925754 splice site probably benign
R0828:Slco1a1 UTSW 6 141921839 missense possibly damaging 0.89
R1674:Slco1a1 UTSW 6 141935935 missense probably damaging 0.99
R1848:Slco1a1 UTSW 6 141923111 missense probably benign 0.29
R3834:Slco1a1 UTSW 6 141943437 missense possibly damaging 0.94
R3953:Slco1a1 UTSW 6 141923107 missense probably damaging 1.00
R3974:Slco1a1 UTSW 6 141909093 missense probably benign 0.01
R4081:Slco1a1 UTSW 6 141935962 missense probably damaging 0.99
R4729:Slco1a1 UTSW 6 141908969 missense probably benign 0.00
R4752:Slco1a1 UTSW 6 141946614 missense possibly damaging 0.80
R4806:Slco1a1 UTSW 6 141909009 missense possibly damaging 0.76
R4812:Slco1a1 UTSW 6 141918593 missense probably damaging 1.00
R4963:Slco1a1 UTSW 6 141923099 missense probably benign 0.26
R5641:Slco1a1 UTSW 6 141939969 missense probably damaging 1.00
R6044:Slco1a1 UTSW 6 141940017 missense probably benign 0.01
R6211:Slco1a1 UTSW 6 141909049 missense probably benign 0.20
R6225:Slco1a1 UTSW 6 141924489 missense possibly damaging 0.70
R6328:Slco1a1 UTSW 6 141932450 missense probably damaging 1.00
R6428:Slco1a1 UTSW 6 141925690 missense probably damaging 1.00
R6787:Slco1a1 UTSW 6 141936487 missense probably benign 0.00
R7182:Slco1a1 UTSW 6 141911839 missense probably damaging 1.00
R7305:Slco1a1 UTSW 6 141924497 missense probably damaging 1.00
R7328:Slco1a1 UTSW 6 141936408 missense possibly damaging 0.94
R7723:Slco1a1 UTSW 6 141909069 missense probably damaging 0.97
R7784:Slco1a1 UTSW 6 141943388 missense probably damaging 0.99
Z1177:Slco1a1 UTSW 6 141940018 missense probably benign 0.01
Posted On2013-04-17