Incidental Mutation 'R6865:Slco1c1'
ID 535864
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 045027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R6865 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 141470094-141515903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141485778 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 136 (Y136F)
Ref Sequence ENSEMBL: ENSMUSP00000144889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032362] [ENSMUST00000135562] [ENSMUST00000203140] [ENSMUST00000204998] [ENSMUST00000205214]
AlphaFold Q9ERB5
Predicted Effect probably damaging
Transcript: ENSMUST00000032362
AA Change: Y136F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: Y136F

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 damaging
Transcript: ENSMUST00000135562
AA Change: Y136F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: Y136F

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 probably damaging
Transcript: ENSMUST00000203140
AA Change: Y18F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: Y18F

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 silent
Transcript: ENSMUST00000204998
Predicted Effect probably damaging
Transcript: ENSMUST00000205214
AA Change: Y136F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: Y136F

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: 99.4%
  • 20x: 98.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T A 13: 4,320,212 (GRCm39) M293L possibly damaging Het
Ankrd11 T C 8: 123,621,683 (GRCm39) D723G probably benign Het
Ankrd26 T C 6: 118,500,442 (GRCm39) R1010G possibly damaging Het
Apob G A 12: 8,058,847 (GRCm39) R2410H probably benign Het
Auh T C 13: 52,992,165 (GRCm39) D275G probably damaging Het
Card10 G T 15: 78,686,822 (GRCm39) D47E possibly damaging Het
Ccdc141 C T 2: 76,859,579 (GRCm39) probably null Het
Cfap206 T C 4: 34,714,448 (GRCm39) Y416C possibly damaging Het
Chuk A T 19: 44,075,354 (GRCm39) Y500* probably null Het
Cop1 T A 1: 159,136,524 (GRCm39) D536E probably damaging Het
Crh G C 3: 19,748,304 (GRCm39) P113A possibly damaging Het
Ddx54 T G 5: 120,759,892 (GRCm39) probably null Het
Efcab7 T C 4: 99,769,793 (GRCm39) S127P probably damaging Het
Efhc1 A G 1: 21,030,442 (GRCm39) Y125C probably damaging Het
Fga T A 3: 82,938,848 (GRCm39) C408S probably damaging Het
Flot2 T C 11: 77,940,318 (GRCm39) S22P probably benign Het
Fndc1 T A 17: 7,991,672 (GRCm39) T675S unknown Het
Foxc1 A G 13: 31,992,836 (GRCm39) D549G unknown Het
Gldc T C 19: 30,111,162 (GRCm39) N538S possibly damaging Het
Grk4 T G 5: 34,888,894 (GRCm39) V346G probably damaging Het
Gucy2c T C 6: 136,747,127 (GRCm39) R111G probably benign Het
Heatr6 C T 11: 83,659,966 (GRCm39) H504Y probably damaging Het
Lrp5 A T 19: 3,670,013 (GRCm39) probably null Het
Msrb1 T C 17: 24,955,685 (GRCm39) S2P possibly damaging Het
Muc5ac C T 7: 141,363,481 (GRCm39) probably benign Het
Myo3a A G 2: 22,464,313 (GRCm39) I185V probably benign Het
Myo5c T C 9: 75,176,878 (GRCm39) S608P probably benign Het
Nek6 A G 2: 38,459,678 (GRCm39) I174V probably benign Het
Nmt2 T C 2: 3,315,766 (GRCm39) V252A probably damaging Het
Nudt9 G T 5: 104,207,545 (GRCm39) R179M probably damaging Het
Nwd1 T C 8: 73,383,690 (GRCm39) V29A possibly damaging Het
Olah T C 2: 3,343,964 (GRCm39) D216G possibly damaging Het
Or13c7b T C 4: 43,821,346 (GRCm39) N5S probably benign Het
Or52n2 T C 7: 104,542,719 (GRCm39) I39V probably benign Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Pkd1 T C 17: 24,795,461 (GRCm39) V2318A probably benign Het
Pknox1 T A 17: 31,807,534 (GRCm39) M51K probably damaging Het
Ppp1r12a C T 10: 108,098,242 (GRCm39) R321* probably null Het
Pxdn A G 12: 30,064,582 (GRCm39) probably null Het
Rab44 A T 17: 29,358,201 (GRCm39) I130F probably benign Het
Rnf130 T C 11: 49,962,091 (GRCm39) I179T probably damaging Het
Slc22a28 A T 19: 8,041,856 (GRCm39) C450* probably null Het
Synj2 C T 17: 6,067,844 (GRCm39) Q106* probably null Het
Uckl1 T C 2: 181,216,286 (GRCm39) N138S probably damaging Het
Usp19 G T 9: 108,376,018 (GRCm39) E203* probably null Het
Vdr A G 15: 97,755,386 (GRCm39) I379T probably damaging Het
Zfp503 C A 14: 22,036,101 (GRCm39) G272C probably damaging Het
Zfyve9 T C 4: 108,501,558 (GRCm39) N1218S possibly damaging Het
Zzz3 T A 3: 152,133,690 (GRCm39) D249E probably benign 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
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
R9345:Slco1c1 UTSW 6 141,493,553 (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'- ACTGCCACCTGTGAAGCTAAC -3'
(R):5'- GTAGTTTGGGGCACTTAAATACTTC -3'

Sequencing Primer
(F):5'- CTGCTATTCAGTGCTGGTTTG -3'
(R):5'- TTTCCCCAGGATTGAGCT -3'
Posted On 2018-10-18