Incidental Mutation 'R7362:Slco1c1'
ID 571412
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 045375-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7362 (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 141515189 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 695 (T695S)
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: T695S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: T695S

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
SMART Domains Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235

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 benign
Transcript: ENSMUST00000203140
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235

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: T646S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: T646S

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: 100.0%
  • 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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 C T 8: 13,295,534 (GRCm39) R193K probably damaging Het
Aoc1 G T 6: 48,882,345 (GRCm39) V74L probably benign Het
Bfsp1 G C 2: 143,668,795 (GRCm39) P601A probably benign Het
Bicd1 A C 6: 149,385,591 (GRCm39) K108T probably benign Het
Btbd18 C T 2: 84,491,887 (GRCm39) Q23* probably null Het
Ccser1 A G 6: 61,787,864 (GRCm39) I227M unknown Het
Cd151 G A 7: 141,049,502 (GRCm39) V70I probably benign Het
Cdh10 A G 15: 18,899,780 (GRCm39) T36A probably benign Het
Crb2 A G 2: 37,680,211 (GRCm39) T380A probably benign Het
Csmd3 A C 15: 47,619,388 (GRCm39) S1829A possibly damaging Het
Dgat2 A T 7: 98,803,843 (GRCm39) H359Q probably damaging Het
Dhdds T C 4: 133,698,441 (GRCm39) T298A probably benign Het
Egfem1 A G 3: 29,206,069 (GRCm39) Q102R probably benign Het
Eps15 T A 4: 109,223,439 (GRCm39) probably null Het
Ern1 T A 11: 106,327,949 (GRCm39) D61V probably damaging Het
Fcamr G A 1: 130,741,760 (GRCm39) R511Q possibly damaging Het
Grhpr T C 4: 44,987,255 (GRCm39) V213A probably benign Het
Gsx2 A G 5: 75,236,765 (GRCm39) D115G possibly damaging Het
Hoxd3 A G 2: 74,574,563 (GRCm39) I70V possibly damaging Het
Inpp5a A G 7: 139,158,296 (GRCm39) I408V probably benign Het
Kansl3 A T 1: 36,383,208 (GRCm39) D759E possibly damaging Het
Lrrc37a T G 11: 103,348,335 (GRCm39) T2787P unknown Het
Mier3 G A 13: 111,841,783 (GRCm39) G115S possibly damaging Het
Mkln1 T C 6: 31,445,103 (GRCm39) I333T probably benign Het
Myt1 T A 2: 181,439,033 (GRCm39) V227D probably benign Het
Or1a1 T C 11: 74,086,412 (GRCm39) F28L probably benign Het
Or52s1 T A 7: 102,861,861 (GRCm39) Y265N probably damaging Het
Or7e171-ps1 C T 9: 19,853,527 (GRCm39) D70N probably damaging Het
Pcf11 A G 7: 92,302,453 (GRCm39) L1219P possibly damaging Het
Pde6g T C 11: 120,338,950 (GRCm39) E80G probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Ppp3cb T A 14: 20,573,719 (GRCm39) Q304L probably benign Het
Prr19 T C 7: 25,003,343 (GRCm39) L319P probably damaging Het
Prss23 C T 7: 89,158,972 (GRCm39) A366T probably damaging Het
Rock2 T C 12: 17,008,422 (GRCm39) L560P probably damaging Het
Simc1 A T 13: 54,687,517 (GRCm39) R95S probably damaging Het
Slc10a6 A T 5: 103,776,992 (GRCm39) V36E probably damaging Het
Spata31h1 T A 10: 82,128,831 (GRCm39) Q1393L possibly damaging Het
Ssh2 T C 11: 77,340,476 (GRCm39) F543L probably benign Het
Tecpr2 T A 12: 110,907,910 (GRCm39) V999D possibly damaging Het
Tnfsf10 A T 3: 27,389,497 (GRCm39) Y186F probably damaging Het
Tnk2 A T 16: 32,494,338 (GRCm39) probably null Het
Tram1 T C 1: 13,659,832 (GRCm39) M39V probably benign Het
Uck2 C T 1: 167,065,211 (GRCm39) V36I possibly damaging Het
Ugcg T A 4: 59,217,109 (GRCm39) M211K probably damaging Het
Vash2 A T 1: 190,692,496 (GRCm39) S226R probably damaging Het
Vmn1r172 T A 7: 23,359,841 (GRCm39) M242K probably damaging Het
Vmn2r82 A T 10: 79,232,451 (GRCm39) M817L probably benign Het
Vwa5b1 T C 4: 138,321,623 (GRCm39) N390S probably damaging Het
Wdr73 T A 7: 80,550,451 (GRCm39) D17V probably damaging Het
Wdr91 A T 6: 34,866,050 (GRCm39) S501T possibly damaging Het
Zfp454 A G 11: 50,777,194 (GRCm39) probably null 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
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'- CTTTCAAGTTGAGTGGCTGC -3'
(R):5'- TGCTTAGAGTCAAAAGCAAAGC -3'

Sequencing Primer
(F):5'- GGCTGCAATAATTATAACCGAGACTC -3'
(R):5'- GCATACCTTTGGAAGCAGAAAG -3'
Posted On 2019-09-13