Incidental Mutation 'IGL02380:Slco3a1'
ID 291347
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Slco3a1
Ensembl Gene ENSMUSG00000025790
Gene Name solute carrier organic anion transporter family, member 3a1
Synonyms OATP-D, Slc21a11, 5830414C08Rik, Anr1, MJAM
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # IGL02380
Quality Score
Status
Chromosome 7
Chromosomal Location 73925167-74204528 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 74204238 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 34 (S34F)
Ref Sequence ENSEMBL: ENSMUSP00000103077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026897] [ENSMUST00000098371] [ENSMUST00000107453] [ENSMUST00000138099]
AlphaFold Q8R3L5
Predicted Effect probably damaging
Transcript: ENSMUST00000026897
AA Change: S34F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000026897
Gene: ENSMUSG00000025790
AA Change: S34F

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
Pfam:MFS_1 44 455 1.2e-27 PFAM
KAZAL 474 509 2.77e-1 SMART
low complexity region 574 594 N/A INTRINSIC
transmembrane domain 626 648 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000098371
AA Change: S34F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000095973
Gene: ENSMUSG00000025790
AA Change: S34F

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
Pfam:MFS_1 44 456 1.2e-27 PFAM
KAZAL 474 509 2.77e-1 SMART
low complexity region 574 594 N/A INTRINSIC
transmembrane domain 626 648 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000107453
AA Change: S34F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000103077
Gene: ENSMUSG00000025790
AA Change: S34F

DomainStartEndE-ValueType
low complexity region 7 16 N/A INTRINSIC
Pfam:MFS_1 45 456 2e-27 PFAM
KAZAL 474 509 2.77e-1 SMART
low complexity region 574 589 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000134539
SMART Domains Protein: ENSMUSP00000116946
Gene: ENSMUSG00000025790

DomainStartEndE-ValueType
Pfam:OATP 3 181 1.6e-56 PFAM
Pfam:MFS_1 6 183 3.3e-10 PFAM
Pfam:OATP 179 219 2.5e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138099
SMART Domains Protein: ENSMUSP00000115279
Gene: ENSMUSG00000025790

DomainStartEndE-ValueType
Pfam:OATP 26 165 2.4e-47 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik C A 7: 40,643,968 (GRCm39) P546T possibly damaging Het
Abca13 T C 11: 9,241,599 (GRCm39) I1154T possibly damaging Het
Abca8a A G 11: 109,969,641 (GRCm39) probably benign Het
Acsm5 A T 7: 119,136,509 (GRCm39) Q360L probably benign Het
Adamtsl5 T C 10: 80,177,612 (GRCm39) E350G probably benign Het
Adgrl2 A T 3: 148,534,125 (GRCm39) L1017* probably null Het
Aqr T C 2: 113,940,417 (GRCm39) D1243G probably damaging Het
Arhgef17 G T 7: 100,578,650 (GRCm39) P766Q possibly damaging Het
Bclaf1 T C 10: 20,201,113 (GRCm39) V413A possibly damaging Het
Bcr A G 10: 75,011,131 (GRCm39) D14G probably benign Het
Cadps2 C T 6: 23,287,731 (GRCm39) V1190I probably benign Het
Cdh9 A G 15: 16,856,086 (GRCm39) I709V possibly damaging Het
Cnbd1 C A 4: 18,887,748 (GRCm39) probably null Het
Cnbd1 T A 4: 18,887,749 (GRCm39) probably null Het
Col4a3 T C 1: 82,650,509 (GRCm39) probably benign Het
Coro1a T A 7: 126,302,288 (GRCm39) K20* probably null Het
Crb2 T A 2: 37,673,447 (GRCm39) D114E probably damaging Het
Dnah6 C A 6: 73,053,623 (GRCm39) K2870N probably benign Het
Fpr3 A G 17: 18,191,254 (GRCm39) H175R probably benign Het
Gk5 T G 9: 96,032,533 (GRCm39) S248A possibly damaging Het
Grm4 T A 17: 27,653,635 (GRCm39) I772F probably damaging Het
Gstt4 A G 10: 75,653,073 (GRCm39) I163T possibly damaging Het
Hr A G 14: 70,795,201 (GRCm39) R278G probably damaging Het
Igfbp5 T A 1: 72,903,108 (GRCm39) R156* probably null Het
Ighv1-4 G A 12: 114,450,753 (GRCm39) probably benign Het
Insyn2a A T 7: 134,500,873 (GRCm39) probably null Het
Kcna2 A C 3: 107,012,274 (GRCm39) Q285P probably benign Het
Klf5 A T 14: 99,538,894 (GRCm39) R102S possibly damaging Het
Ldb1 A T 19: 46,022,929 (GRCm39) M252K possibly damaging Het
Lrrc66 T C 5: 73,787,009 (GRCm39) I114V possibly damaging Het
Map1b A T 13: 99,567,651 (GRCm39) I1690N unknown Het
Myo1a A G 10: 127,550,354 (GRCm39) T565A probably benign Het
Nt5c T C 11: 115,382,127 (GRCm39) D84G possibly damaging Het
Pde1b A G 15: 103,428,417 (GRCm39) N51S possibly damaging Het
Pikfyve T A 1: 65,295,180 (GRCm39) L1437Q probably damaging Het
Pld5 C T 1: 175,967,610 (GRCm39) V82I probably damaging Het
Psmb6 T A 11: 70,416,737 (GRCm39) N42K probably benign Het
Slfn9 A G 11: 82,872,046 (GRCm39) Y897H probably benign Het
Spag6l T C 16: 16,581,033 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tmem215 A T 4: 40,474,534 (GRCm39) I204F probably benign Het
Txnl1 A G 18: 63,807,114 (GRCm39) probably null Het
Ube2q2 T A 9: 55,070,296 (GRCm39) D79E probably benign Het
Ugt2a3 T C 5: 87,484,658 (GRCm39) D122G probably benign Het
Vmn2r73 A T 7: 85,507,383 (GRCm39) I643K probably benign Het
Xkrx T A X: 133,051,388 (GRCm39) H421L probably benign Het
Other mutations in Slco3a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Slco3a1 APN 7 74,153,931 (GRCm39) missense probably damaging 1.00
IGL01124:Slco3a1 APN 7 73,934,295 (GRCm39) missense probably damaging 1.00
IGL01583:Slco3a1 APN 7 73,934,198 (GRCm39) missense probably benign 0.01
IGL01929:Slco3a1 APN 7 73,968,353 (GRCm39) splice site probably benign
IGL01991:Slco3a1 APN 7 73,934,144 (GRCm39) missense possibly damaging 0.84
IGL03269:Slco3a1 APN 7 73,968,280 (GRCm39) missense possibly damaging 0.58
R0052:Slco3a1 UTSW 7 74,154,074 (GRCm39) missense probably benign 0.00
R0052:Slco3a1 UTSW 7 74,154,074 (GRCm39) missense probably benign 0.00
R0317:Slco3a1 UTSW 7 74,154,174 (GRCm39) missense probably damaging 1.00
R0545:Slco3a1 UTSW 7 73,970,301 (GRCm39) nonsense probably null
R0613:Slco3a1 UTSW 7 73,996,382 (GRCm39) unclassified probably benign
R1488:Slco3a1 UTSW 7 73,996,449 (GRCm39) missense possibly damaging 0.94
R1506:Slco3a1 UTSW 7 74,009,683 (GRCm39) splice site probably null
R1571:Slco3a1 UTSW 7 74,154,128 (GRCm39) missense possibly damaging 0.92
R1912:Slco3a1 UTSW 7 74,154,359 (GRCm39) missense probably damaging 1.00
R2011:Slco3a1 UTSW 7 73,996,419 (GRCm39) missense probably benign 0.08
R2382:Slco3a1 UTSW 7 73,996,524 (GRCm39) missense probably benign 0.00
R3735:Slco3a1 UTSW 7 74,154,245 (GRCm39) missense probably damaging 1.00
R3894:Slco3a1 UTSW 7 73,934,361 (GRCm39) missense probably damaging 1.00
R4151:Slco3a1 UTSW 7 74,009,586 (GRCm39) missense probably damaging 1.00
R4175:Slco3a1 UTSW 7 73,968,302 (GRCm39) missense probably damaging 0.97
R4303:Slco3a1 UTSW 7 74,204,276 (GRCm39) missense probably benign 0.03
R4462:Slco3a1 UTSW 7 74,204,311 (GRCm39) missense probably benign 0.18
R4702:Slco3a1 UTSW 7 73,970,315 (GRCm39) missense probably damaging 0.98
R4896:Slco3a1 UTSW 7 73,970,304 (GRCm39) missense probably null 1.00
R5419:Slco3a1 UTSW 7 73,934,363 (GRCm39) missense possibly damaging 0.77
R5561:Slco3a1 UTSW 7 73,968,247 (GRCm39) missense possibly damaging 0.67
R5597:Slco3a1 UTSW 7 73,934,210 (GRCm39) missense probably benign 0.31
R5698:Slco3a1 UTSW 7 73,996,566 (GRCm39) missense probably damaging 1.00
R6086:Slco3a1 UTSW 7 73,968,338 (GRCm39) missense possibly damaging 0.64
R6117:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R6118:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R6123:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R6124:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R6125:Slco3a1 UTSW 7 73,968,254 (GRCm39) missense probably benign 0.02
R7147:Slco3a1 UTSW 7 74,154,042 (GRCm39) missense probably damaging 1.00
R7332:Slco3a1 UTSW 7 73,968,232 (GRCm39) missense possibly damaging 0.95
R7335:Slco3a1 UTSW 7 73,934,090 (GRCm39) missense probably damaging 0.99
R7646:Slco3a1 UTSW 7 74,154,344 (GRCm39) missense probably damaging 1.00
R7798:Slco3a1 UTSW 7 73,968,344 (GRCm39) missense probably benign 0.00
R8024:Slco3a1 UTSW 7 74,204,218 (GRCm39) missense probably benign 0.24
R8128:Slco3a1 UTSW 7 73,934,049 (GRCm39) missense probably damaging 1.00
R8184:Slco3a1 UTSW 7 74,009,577 (GRCm39) missense probably benign 0.01
R8192:Slco3a1 UTSW 7 73,970,338 (GRCm39) missense probably benign 0.13
R8279:Slco3a1 UTSW 7 73,934,144 (GRCm39) missense possibly damaging 0.84
R8511:Slco3a1 UTSW 7 73,952,990 (GRCm39) missense probably benign 0.33
R8732:Slco3a1 UTSW 7 73,934,054 (GRCm39) missense possibly damaging 0.47
R8933:Slco3a1 UTSW 7 73,934,248 (GRCm39) nonsense probably null
R8987:Slco3a1 UTSW 7 73,970,324 (GRCm39) missense possibly damaging 0.92
R9138:Slco3a1 UTSW 7 74,009,664 (GRCm39) missense probably damaging 1.00
R9177:Slco3a1 UTSW 7 73,952,946 (GRCm39) missense probably benign 0.40
R9268:Slco3a1 UTSW 7 73,952,946 (GRCm39) missense probably benign 0.40
R9310:Slco3a1 UTSW 7 74,204,236 (GRCm39) missense probably damaging 0.99
R9342:Slco3a1 UTSW 7 74,154,037 (GRCm39) missense probably damaging 1.00
R9347:Slco3a1 UTSW 7 73,934,153 (GRCm39) missense possibly damaging 0.89
R9422:Slco3a1 UTSW 7 73,946,996 (GRCm39) missense probably damaging 1.00
R9556:Slco3a1 UTSW 7 74,201,905 (GRCm39) missense probably benign 0.00
R9560:Slco3a1 UTSW 7 74,153,931 (GRCm39) missense probably damaging 1.00
R9709:Slco3a1 UTSW 7 73,952,957 (GRCm39) missense possibly damaging 0.62
X0017:Slco3a1 UTSW 7 73,934,108 (GRCm39) missense probably benign 0.03
Z1176:Slco3a1 UTSW 7 73,925,762 (GRCm39) nonsense probably null
Posted On 2015-04-16