Incidental Mutation 'R8348:Slco1a1'
ID 645362
Institutional Source Beutler Lab
Gene Symbol Slco1a1
Ensembl Gene ENSMUSG00000041698
Gene Name solute carrier organic anion transporter family, member 1a1
Synonyms Slc21a1, Oatp1a1, Oatp1
MMRRC Submission 067732-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R8348 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 141853008-141892688 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141885787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 79 (F79L)
Ref Sequence ENSEMBL: ENSMUSP00000037022 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042119] [ENSMUST00000168119]
AlphaFold Q9QXZ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000042119
AA Change: F79L

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: F79L

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 possibly damaging
Transcript: ENSMUST00000168119
AA Change: F79L

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: F79L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T C 4: 62,461,022 (GRCm39) probably null Het
Adamts6 T A 13: 104,616,027 (GRCm39) C1030S probably damaging Het
Adamtsl3 C A 7: 82,253,007 (GRCm39) T1527K possibly damaging Het
Akap9 G A 5: 3,998,897 (GRCm39) probably null Het
Ankle2 C A 5: 110,389,909 (GRCm39) P457T possibly damaging Het
Ankrd7 A G 6: 18,868,007 (GRCm39) N91S probably damaging Het
Ascc3 C A 10: 50,494,173 (GRCm39) Q203K probably benign Het
Baz2b A T 2: 59,742,137 (GRCm39) D61E Het
Bmpr1a T A 14: 34,136,759 (GRCm39) K477N probably benign Het
Cacna1d T C 14: 29,824,364 (GRCm39) I1040V probably damaging Het
Castor2 T C 5: 134,166,955 (GRCm39) F304L possibly damaging Het
Cdkn2a C A 4: 89,200,291 (GRCm39) V20L possibly damaging Het
Chd5 A G 4: 152,445,173 (GRCm39) S385G probably damaging Het
Cntrob A G 11: 69,190,679 (GRCm39) F46L unknown Het
Cth T C 3: 157,630,657 (GRCm39) D4G probably benign Het
Cyld C T 8: 89,456,197 (GRCm39) H416Y probably damaging Het
Dennd6a C A 14: 26,328,098 (GRCm39) H264Q possibly damaging Het
Dnah1 T C 14: 31,015,682 (GRCm39) Y1672C probably damaging Het
Dnah8 A G 17: 30,892,814 (GRCm39) I800V probably benign Het
Esrp2 A G 8: 106,858,853 (GRCm39) Y595H probably damaging Het
F12 T A 13: 55,566,301 (GRCm39) Y497F probably benign Het
Fggy A G 4: 95,732,427 (GRCm39) T473A probably benign Het
Garre1 A T 7: 33,984,569 (GRCm39) L18Q probably damaging Het
Gm21103 C A 14: 17,482,861 (GRCm39) R180L probably benign Het
Gstt2 C A 10: 75,668,526 (GRCm39) R107L probably damaging Het
Hectd4 A T 5: 121,358,319 (GRCm39) probably benign Het
Helb A G 10: 119,938,791 (GRCm39) F561S probably damaging Het
Ints2 T C 11: 86,146,249 (GRCm39) T120A probably benign Het
Kdm5d G A Y: 914,056 (GRCm39) R331H probably benign Het
Krt6b A G 15: 101,586,455 (GRCm39) Y345H probably damaging Het
Limch1 A G 5: 67,159,825 (GRCm39) K418E probably damaging Het
Lrrc37 T A 11: 103,511,726 (GRCm39) T81S unknown Het
Med17 C T 9: 15,173,735 (GRCm39) probably null Het
Met A T 6: 17,571,799 (GRCm39) I1373F probably benign Het
Naip6 T A 13: 100,436,894 (GRCm39) Q543L possibly damaging Het
Nat9 T C 11: 115,075,902 (GRCm39) T40A probably damaging Het
Ogdh A G 11: 6,292,619 (GRCm39) N455S probably damaging Het
Or52k2 C A 7: 102,254,207 (GRCm39) F215L probably benign Het
Pde4a T C 9: 21,117,534 (GRCm39) F599L probably benign Het
Pga5 T C 19: 10,649,173 (GRCm39) Y249C probably damaging Het
Plekha8 A T 6: 54,607,539 (GRCm39) K382M probably damaging Het
Plekhd1 A T 12: 80,753,149 (GRCm39) E119V probably damaging Het
Pnp A T 14: 51,185,356 (GRCm39) H20L probably benign Het
Polq A T 16: 36,837,559 (GRCm39) probably null Het
Psma3 T G 12: 71,035,250 (GRCm39) I177R probably damaging Het
Ptpn3 A G 4: 57,240,784 (GRCm39) probably null Het
Ptprt A T 2: 161,400,806 (GRCm39) L1077Q probably damaging Het
Rbm47 A T 5: 66,184,573 (GRCm39) M10K possibly damaging Het
Rere A G 4: 150,703,653 (GRCm39) D186G probably damaging Het
Rpl24 T C 16: 55,787,453 (GRCm39) S38P probably damaging Het
Sorl1 T A 9: 41,903,041 (GRCm39) D1551V probably benign Het
Sos1 C A 17: 80,741,548 (GRCm39) M412I probably benign Het
Spast G A 17: 74,666,293 (GRCm39) V209I probably benign Het
Spindoc G T 19: 7,335,769 (GRCm39) Q340K possibly damaging Het
Tlr6 T C 5: 65,111,185 (GRCm39) Y574C probably damaging Het
Tnrc6a A G 7: 122,791,346 (GRCm39) N1748S possibly damaging Het
Trbv13-2 A T 6: 41,098,474 (GRCm39) K16N probably benign Het
Triobp C T 15: 78,878,326 (GRCm39) H1750Y possibly damaging Het
Ubc C T 5: 125,465,095 (GRCm39) M77I probably damaging Het
Usp24 A G 4: 106,225,933 (GRCm39) D659G possibly damaging Het
Vmn2r88 T A 14: 51,656,253 (GRCm39) C821S probably damaging Het
Whamm T A 7: 81,224,295 (GRCm39) V197D probably damaging Het
Zfp777 A G 6: 48,006,101 (GRCm39) F431S probably damaging Het
Other mutations in Slco1a1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Slco1a1 APN 6 141,854,851 (GRCm39) missense probably damaging 0.98
IGL00942:Slco1a1 APN 6 141,892,354 (GRCm39) missense probably benign 0.00
IGL01301:Slco1a1 APN 6 141,878,256 (GRCm39) splice site probably benign
IGL01306:Slco1a1 APN 6 141,892,313 (GRCm39) nonsense probably null
IGL01774:Slco1a1 APN 6 141,871,339 (GRCm39) nonsense probably null
IGL02097:Slco1a1 APN 6 141,885,765 (GRCm39) missense possibly damaging 0.94
IGL02183:Slco1a1 APN 6 141,867,669 (GRCm39) splice site probably benign
IGL02376:Slco1a1 APN 6 141,870,060 (GRCm39) critical splice donor site probably null
IGL02550:Slco1a1 APN 6 141,889,191 (GRCm39) missense probably benign 0.24
IGL02559:Slco1a1 APN 6 141,867,514 (GRCm39) missense probably benign 0.01
IGL02825:Slco1a1 APN 6 141,864,343 (GRCm39) missense probably damaging 1.00
IGL03352:Slco1a1 APN 6 141,857,611 (GRCm39) missense probably benign 0.00
ANU23:Slco1a1 UTSW 6 141,892,313 (GRCm39) nonsense probably null
R0041:Slco1a1 UTSW 6 141,864,185 (GRCm39) splice site probably benign
R0153:Slco1a1 UTSW 6 141,856,427 (GRCm39) splice site probably benign
R0610:Slco1a1 UTSW 6 141,864,187 (GRCm39) critical splice donor site probably null
R0646:Slco1a1 UTSW 6 141,871,480 (GRCm39) splice site probably benign
R0828:Slco1a1 UTSW 6 141,867,565 (GRCm39) missense possibly damaging 0.89
R1674:Slco1a1 UTSW 6 141,881,661 (GRCm39) missense probably damaging 0.99
R1848:Slco1a1 UTSW 6 141,868,837 (GRCm39) missense probably benign 0.29
R3834:Slco1a1 UTSW 6 141,889,163 (GRCm39) missense possibly damaging 0.94
R3953:Slco1a1 UTSW 6 141,868,833 (GRCm39) missense probably damaging 1.00
R3974:Slco1a1 UTSW 6 141,854,819 (GRCm39) missense probably benign 0.01
R4081:Slco1a1 UTSW 6 141,881,688 (GRCm39) missense probably damaging 0.99
R4729:Slco1a1 UTSW 6 141,854,695 (GRCm39) missense probably benign 0.00
R4752:Slco1a1 UTSW 6 141,892,340 (GRCm39) missense possibly damaging 0.80
R4806:Slco1a1 UTSW 6 141,854,735 (GRCm39) missense possibly damaging 0.76
R4812:Slco1a1 UTSW 6 141,864,319 (GRCm39) missense probably damaging 1.00
R4963:Slco1a1 UTSW 6 141,868,825 (GRCm39) missense probably benign 0.26
R5641:Slco1a1 UTSW 6 141,885,695 (GRCm39) missense probably damaging 1.00
R6044:Slco1a1 UTSW 6 141,885,743 (GRCm39) missense probably benign 0.01
R6211:Slco1a1 UTSW 6 141,854,775 (GRCm39) missense probably benign 0.20
R6225:Slco1a1 UTSW 6 141,870,215 (GRCm39) missense possibly damaging 0.70
R6328:Slco1a1 UTSW 6 141,878,176 (GRCm39) missense probably damaging 1.00
R6428:Slco1a1 UTSW 6 141,871,416 (GRCm39) missense probably damaging 1.00
R6787:Slco1a1 UTSW 6 141,882,213 (GRCm39) missense probably benign 0.00
R7182:Slco1a1 UTSW 6 141,857,565 (GRCm39) missense probably damaging 1.00
R7305:Slco1a1 UTSW 6 141,870,223 (GRCm39) missense probably damaging 1.00
R7328:Slco1a1 UTSW 6 141,882,134 (GRCm39) missense possibly damaging 0.94
R7723:Slco1a1 UTSW 6 141,854,795 (GRCm39) missense probably damaging 0.97
R7784:Slco1a1 UTSW 6 141,889,114 (GRCm39) missense probably damaging 0.99
R8448:Slco1a1 UTSW 6 141,885,787 (GRCm39) missense possibly damaging 0.79
R8856:Slco1a1 UTSW 6 141,857,624 (GRCm39) missense probably damaging 1.00
R9121:Slco1a1 UTSW 6 141,892,542 (GRCm39) unclassified probably benign
R9484:Slco1a1 UTSW 6 141,854,672 (GRCm39) missense probably benign 0.00
Z1177:Slco1a1 UTSW 6 141,885,744 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGGGGAAACTATTATGAGCCTC -3'
(R):5'- GAAGAGAACTTTCCTTCTGGGTC -3'

Sequencing Primer
(F):5'- GAGCCTCATTTCCTGTAGGTTAAAG -3'
(R):5'- GAACTTTCCTTCTGGGTCATAATTG -3'
Posted On 2020-09-02