Incidental Mutation 'R7696:Slco1c1'
ID 593656
Institutional Source Beutler Lab
Gene Symbol Slco1c1
Ensembl Gene ENSMUSG00000030235
Gene Name solute carrier organic anion transporter family, member 1c1
Synonyms OATP-F, Slc21a14
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7696 (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 G at 141513336 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 537 (Y537C)
Ref Sequence ENSEMBL: ENSMUSP00000145058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032362] [ENSMUST00000135562] [ENSMUST00000203140] [ENSMUST00000204998] [ENSMUST00000205214]
AlphaFold Q9ERB5
Predicted Effect probably benign
Transcript: ENSMUST00000032362
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235

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
AA Change: Y537C

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: Y537C

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
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235

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: 99.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 C T 15: 11,258,224 (GRCm39) R512C probably damaging Het
Afap1l2 C A 19: 56,902,918 (GRCm39) V754L probably damaging Het
Atp5f1a T A 18: 77,868,686 (GRCm39) I393N probably damaging Het
Bbs1 C T 19: 4,941,017 (GRCm39) probably null Het
Bglap2 A T 3: 88,285,923 (GRCm39) L12Q unknown Het
Bsn C T 9: 107,991,700 (GRCm39) V1351I probably damaging Het
Cbx1 T C 11: 96,697,468 (GRCm39) V147A probably damaging Het
Cep192 T A 18: 67,953,434 (GRCm39) S484T probably damaging Het
Col18a1 A T 10: 76,921,106 (GRCm39) I298K unknown Het
Cyp27a1 A T 1: 74,771,198 (GRCm39) I128L probably benign Het
Dhdds C T 4: 133,724,225 (GRCm39) A30T probably damaging Het
Dnajc12 A G 10: 63,242,911 (GRCm39) N143S probably benign Het
Eno3 T G 11: 70,552,809 (GRCm39) N363K probably benign Het
Galnt10 T A 11: 57,660,364 (GRCm39) D267E probably damaging Het
Galr2 C T 11: 116,173,993 (GRCm39) R208C probably damaging Het
Hif3a G A 7: 16,788,712 (GRCm39) R82C unknown Het
Hspg2 T A 4: 137,239,277 (GRCm39) F401L possibly damaging Het
Iars1 G T 13: 49,860,214 (GRCm39) W455L probably damaging Het
Irf1 C T 11: 53,667,162 (GRCm39) H294Y probably benign Het
Itgal T C 7: 126,929,356 (GRCm39) L1091P probably damaging Het
Lrrc37a T G 11: 103,389,263 (GRCm39) D2054A probably benign Het
Map3k2 T A 18: 32,353,647 (GRCm39) H472Q probably benign Het
Myo18b T C 5: 112,840,158 (GRCm39) D2545G probably damaging Het
Nle1 G T 11: 82,795,792 (GRCm39) Y218* probably null Het
Pdlim5 A T 3: 141,983,623 (GRCm39) S377T probably benign Het
Plch1 A T 3: 63,662,726 (GRCm39) M259K probably benign Het
Pou6f1 A G 15: 100,481,979 (GRCm39) V268A probably benign Het
Prn C A 2: 131,788,365 (GRCm39) L7I unknown Het
Prpf6 C T 2: 181,250,035 (GRCm39) A65V possibly damaging Het
Rarres1 A T 3: 67,398,345 (GRCm39) F138L probably benign Het
Ros1 C T 10: 52,018,379 (GRCm39) V781M probably damaging Het
Sec16a C A 2: 26,305,645 (GRCm39) probably null Het
Slc44a4 G A 17: 35,147,676 (GRCm39) G606D probably damaging Het
Slco1a4 A T 6: 141,756,237 (GRCm39) C538* probably null Het
Speg T A 1: 75,405,805 (GRCm39) L3003Q probably damaging Het
Ssr3 A G 3: 65,299,886 (GRCm39) S25P probably benign Het
Stard13 C A 5: 150,984,267 (GRCm39) R623L probably damaging Het
Tbc1d5 A G 17: 51,181,605 (GRCm39) I376T probably damaging Het
Tigd4 C A 3: 84,502,224 (GRCm39) F380L possibly damaging Het
Tmc4 T C 7: 3,672,574 (GRCm39) K489E probably damaging Het
Tmem114 C T 16: 8,242,353 (GRCm39) R55H probably benign Het
Tmem168 A G 6: 13,602,937 (GRCm39) I143T probably benign Het
Tmem87b C T 2: 128,683,237 (GRCm39) T397I probably damaging Het
Tom1l1 C A 11: 90,563,741 (GRCm39) R173L probably benign Het
Trim10 G A 17: 37,182,644 (GRCm39) R170K probably damaging Het
Usp6nl T A 2: 6,429,134 (GRCm39) Y222N probably damaging Het
Vmn2r26 A T 6: 124,038,494 (GRCm39) I690F possibly damaging Het
Zfp1006 A G 8: 129,945,794 (GRCm39) Y344H 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
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
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'- CTGGGTCACTTCTTATGGCC -3'
(R):5'- ACGCATTGCTAACTGTGCTAAC -3'

Sequencing Primer
(F):5'- CTGGGTCACTTCTTATGGCCAAAAAC -3'
(R):5'- CAATGTCAACACTTGGCAAT -3'
Posted On 2019-11-12