Incidental Mutation 'R9345:Slco1c1'
ID 707736
Institutional Source Beutler Lab
Gene Symbol Slco1c1
Ensembl Gene ENSMUSG00000030235
Gene Name solute carrier organic anion transporter family, member 1c1
Synonyms OATP-F, Slc21a14
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R9345 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 141470094-141515903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 141493553 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 363 (C363F)
Ref Sequence ENSEMBL: ENSMUSP00000032362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032362] [ENSMUST00000135562] [ENSMUST00000203140] [ENSMUST00000204998] [ENSMUST00000205214]
AlphaFold Q9ERB5
Predicted Effect probably benign
Transcript: ENSMUST00000032362
AA Change: C363F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: C363F

DomainStartEndE-ValueType
low complexity region 134 148 N/A INTRINSIC
low complexity region 152 168 N/A INTRINSIC
Pfam:MFS_1 181 464 1.1e-19 PFAM
KAZAL 478 518 1.21e0 SMART
transmembrane domain 644 666 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000135562
AA Change: C363F

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: C363F

DomainStartEndE-ValueType
Pfam:OATP 42 469 2.1e-135 PFAM
Pfam:Sugar_tr 175 460 2.9e-7 PFAM
Pfam:MFS_1 181 463 3.8e-20 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000203140
AA Change: C245F

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: C245F

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
low complexity region 34 50 N/A INTRINSIC
Pfam:MFS_1 63 346 2e-18 PFAM
KAZAL 360 400 7.8e-3 SMART
transmembrane domain 437 459 N/A INTRINSIC
transmembrane domain 474 496 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204998
Predicted Effect probably benign
Transcript: ENSMUST00000205214
AA Change: C314F

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: C314F

DomainStartEndE-ValueType
Pfam:OATP 44 176 1.3e-35 PFAM
Pfam:MFS_1 169 415 1.1e-10 PFAM
KAZAL 429 469 7.8e-3 SMART
transmembrane domain 509 531 N/A INTRINSIC
transmembrane domain 544 566 N/A INTRINSIC
transmembrane domain 595 617 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the organic anion transporter family. The encoded protein is a transmembrane receptor that mediates the sodium-independent uptake of thyroid hormones in brain tissues. This protein has particularly high affinity for the thyroid hormones thyroxine, tri-iodothyronine and reverse tri-iodothyronine. Polymorphisms in the gene encoding this protein may be associated with fatigue and depression in patients suffering from hyperthyroidism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased thyroxine and triiodothyronine levels in the forebrain, in the absence of overt growth, reproductive or neurological abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,807,869 (GRCm39) I837F probably damaging Het
Acot3 A G 12: 84,103,866 (GRCm39) Y225C probably benign Het
Adam17 A G 12: 21,378,056 (GRCm39) V710A probably damaging Het
Ank3 A G 10: 69,761,899 (GRCm39) probably benign Het
Ankrd60 T A 2: 173,410,610 (GRCm39) K303N possibly damaging Het
Atp10b T A 11: 43,094,024 (GRCm39) S523T probably damaging Het
Bptf A G 11: 106,971,588 (GRCm39) V973A possibly damaging Het
Ccdc24 C T 4: 117,729,691 (GRCm39) W9* probably null Het
Ccdc82 A G 9: 13,281,891 (GRCm39) T439A probably benign Het
Ccne2 C A 4: 11,199,420 (GRCm39) Q274K probably benign Het
Clec11a T C 7: 43,956,189 (GRCm39) M1V probably null Het
Col12a1 T A 9: 79,541,017 (GRCm39) Y2370F probably benign Het
Cyp4a32 C T 4: 115,467,699 (GRCm39) H228Y probably benign Het
Dchs2 G A 3: 83,036,101 (GRCm39) G283S probably benign Het
Dis3 T C 14: 99,318,814 (GRCm39) T659A probably damaging Het
Dock5 T C 14: 68,060,071 (GRCm39) D456G possibly damaging Het
Efr3b T A 12: 4,033,409 (GRCm39) K249* probably null Het
Emilin2 C T 17: 71,581,539 (GRCm39) V396I probably benign Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fasn A T 11: 120,706,735 (GRCm39) S947T probably benign Het
Fryl C T 5: 73,207,754 (GRCm39) C2472Y probably benign Het
Gm3159 A T 14: 4,398,488 (GRCm38) I60L probably benign Het
Gm3402 A T 5: 146,451,330 (GRCm39) N63Y probably damaging Het
Gm49355 C T 14: 12,296,641 (GRCm38) probably benign Het
Grm2 A G 9: 106,528,287 (GRCm39) L199P probably damaging Het
Hck T A 2: 152,992,904 (GRCm39) H470Q probably benign Het
Hsd17b4 T C 18: 50,299,981 (GRCm39) Y413H probably benign Het
Ice1 A G 13: 70,740,758 (GRCm39) F80L Het
Ifrd1 G A 12: 40,267,458 (GRCm39) P38S possibly damaging Het
Itgad A G 7: 127,788,479 (GRCm39) T431A probably benign Het
Kcnd3 A T 3: 105,566,003 (GRCm39) I395F probably damaging Het
Kif20a A G 18: 34,759,779 (GRCm39) E58G probably benign Het
Kras A T 6: 145,192,442 (GRCm39) D30E probably benign Het
Lmbrd1 C T 1: 24,724,593 (GRCm39) A59V probably damaging Het
Lrrc20 T C 10: 61,383,890 (GRCm39) L99P probably damaging Het
Mfn2 T C 4: 147,966,649 (GRCm39) D514G probably benign Het
Myl2 A G 5: 122,242,902 (GRCm39) E96G probably damaging Het
Nppb T G 4: 148,070,518 (GRCm39) L29R probably damaging Het
Or51f1e C T 7: 102,747,713 (GRCm39) A255V possibly damaging Het
Or5ak22 A G 2: 85,230,097 (GRCm39) V260A probably benign Het
Pcdhb14 A G 18: 37,581,281 (GRCm39) H129R probably damaging Het
Pex11g T C 8: 3,509,363 (GRCm39) N188S possibly damaging Het
Pla2g3 A G 11: 3,442,170 (GRCm39) D410G probably benign Het
Pnma1 C A 12: 84,194,232 (GRCm39) W157L probably benign Het
Pofut2 A G 10: 77,103,090 (GRCm39) Y362C probably damaging Het
Ppp1r14c C A 10: 3,373,567 (GRCm39) S126* probably null Het
Psg27 T C 7: 18,299,081 (GRCm39) H80R probably benign Het
Rere T A 4: 150,554,770 (GRCm39) V156D probably damaging Het
Rsf1 CGGC CGGCGGCGGGGGC 7: 97,229,139 (GRCm39) probably benign Het
Samd8 G A 14: 21,830,227 (GRCm39) V281I probably benign Het
Scarf1 A G 11: 75,404,401 (GRCm39) probably benign Het
Scgb2b27 A G 7: 33,712,722 (GRCm39) L40P probably benign Het
Sdk1 A T 5: 142,147,708 (GRCm39) H1780L probably benign Het
Slc10a6 T C 5: 103,754,521 (GRCm39) T337A probably benign Het
Slc44a4 A T 17: 35,140,219 (GRCm39) D208V probably benign Het
Smg5 T A 3: 88,261,848 (GRCm39) L707Q probably damaging Het
Supt5 A T 7: 28,016,412 (GRCm39) D789E probably benign Het
Tbcd A G 11: 121,464,648 (GRCm39) Y561C probably damaging Het
Tectb T C 19: 55,183,097 (GRCm39) L316P probably benign Het
Thrsp T C 7: 97,066,326 (GRCm39) T129A possibly damaging Het
Tnpo3 T C 6: 29,558,851 (GRCm39) H693R probably benign Het
Trim54 T G 5: 31,294,478 (GRCm39) D335E probably benign Het
Tsr1 A G 11: 74,790,126 (GRCm39) D107G probably benign Het
Ttc41 A T 10: 86,595,089 (GRCm39) E954D probably damaging Het
Ttn A G 2: 76,538,595 (GRCm39) L34701P possibly damaging Het
Vmn1r119 A C 7: 20,746,034 (GRCm39) V116G probably damaging Het
Vmn1r219 G A 13: 23,346,769 (GRCm39) probably benign Het
Zc3h12c T A 9: 52,028,010 (GRCm39) M470L probably benign Het
Zmynd8 T C 2: 165,654,668 (GRCm39) K615E possibly damaging Het
Other mutations in Slco1c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Slco1c1 APN 6 141,515,208 (GRCm39) missense probably benign 0.00
IGL00766:Slco1c1 APN 6 141,493,609 (GRCm39) missense probably damaging 1.00
IGL00825:Slco1c1 APN 6 141,487,868 (GRCm39) missense probably damaging 1.00
IGL01380:Slco1c1 APN 6 141,485,777 (GRCm39) missense probably damaging 1.00
IGL01583:Slco1c1 APN 6 141,485,793 (GRCm39) missense probably damaging 1.00
IGL01877:Slco1c1 APN 6 141,500,879 (GRCm39) missense probably damaging 0.98
IGL02601:Slco1c1 APN 6 141,490,555 (GRCm39) missense probably damaging 1.00
IGL02852:Slco1c1 APN 6 141,493,550 (GRCm39) nonsense probably null
IGL03058:Slco1c1 APN 6 141,508,913 (GRCm39) missense probably benign 0.44
IGL03102:Slco1c1 APN 6 141,490,553 (GRCm39) missense possibly damaging 0.63
R0101:Slco1c1 UTSW 6 141,477,236 (GRCm39) missense probably damaging 0.99
R0326:Slco1c1 UTSW 6 141,505,499 (GRCm39) missense probably benign 0.45
R0755:Slco1c1 UTSW 6 141,477,258 (GRCm39) missense probably damaging 0.99
R1335:Slco1c1 UTSW 6 141,487,853 (GRCm39) missense probably damaging 1.00
R2011:Slco1c1 UTSW 6 141,500,833 (GRCm39) missense probably benign 0.00
R2084:Slco1c1 UTSW 6 141,505,578 (GRCm39) nonsense probably null
R2163:Slco1c1 UTSW 6 141,505,478 (GRCm39) missense probably benign 0.25
R2190:Slco1c1 UTSW 6 141,508,893 (GRCm39) missense probably benign 0.02
R2248:Slco1c1 UTSW 6 141,492,415 (GRCm39) missense probably damaging 1.00
R2876:Slco1c1 UTSW 6 141,505,582 (GRCm39) missense probably damaging 1.00
R3004:Slco1c1 UTSW 6 141,478,380 (GRCm39) missense probably damaging 1.00
R3196:Slco1c1 UTSW 6 141,477,174 (GRCm39) splice site probably null
R4444:Slco1c1 UTSW 6 141,492,417 (GRCm39) missense possibly damaging 0.96
R4529:Slco1c1 UTSW 6 141,500,907 (GRCm39) missense probably damaging 1.00
R4743:Slco1c1 UTSW 6 141,510,242 (GRCm39) missense probably damaging 0.98
R5261:Slco1c1 UTSW 6 141,492,502 (GRCm39) missense probably damaging 1.00
R5451:Slco1c1 UTSW 6 141,505,604 (GRCm39) missense probably benign 0.04
R5558:Slco1c1 UTSW 6 141,513,222 (GRCm39) missense probably damaging 0.97
R5813:Slco1c1 UTSW 6 141,487,929 (GRCm39) missense probably damaging 1.00
R5836:Slco1c1 UTSW 6 141,515,040 (GRCm39) missense probably damaging 1.00
R6084:Slco1c1 UTSW 6 141,492,496 (GRCm39) missense probably benign 0.02
R6434:Slco1c1 UTSW 6 141,493,576 (GRCm39) missense probably damaging 1.00
R6544:Slco1c1 UTSW 6 141,477,170 (GRCm39) splice site probably null
R6766:Slco1c1 UTSW 6 141,493,535 (GRCm39) missense possibly damaging 0.49
R6865:Slco1c1 UTSW 6 141,485,778 (GRCm39) missense probably damaging 1.00
R7050:Slco1c1 UTSW 6 141,493,652 (GRCm39) missense probably damaging 1.00
R7164:Slco1c1 UTSW 6 141,487,855 (GRCm39) nonsense probably null
R7255:Slco1c1 UTSW 6 141,515,051 (GRCm39) missense probably benign 0.07
R7362:Slco1c1 UTSW 6 141,515,189 (GRCm39) missense probably benign 0.00
R7696:Slco1c1 UTSW 6 141,513,336 (GRCm39) missense probably benign 0.01
R8316:Slco1c1 UTSW 6 141,492,640 (GRCm39) missense probably benign 0.03
R8799:Slco1c1 UTSW 6 141,505,531 (GRCm39) missense probably benign 0.22
R9560:Slco1c1 UTSW 6 141,515,076 (GRCm39) missense probably benign 0.00
R9561:Slco1c1 UTSW 6 141,505,606 (GRCm39) missense possibly damaging 0.89
X0061:Slco1c1 UTSW 6 141,478,465 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTGTAGGAGTGTGCATGC -3'
(R):5'- CCCACCATGTATATATTCATGCTAC -3'

Sequencing Primer
(F):5'- GTGCATGCCTAGATTCAAGC -3'
(R):5'- GCAATATAATGTTACTGAGAATGTGC -3'
Posted On 2022-04-18