Incidental Mutation 'R9560:Slco1c1'
ID 720959
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 # R9560 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 141470094-141515903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141515076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 657 (V657A)
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: V657A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: V657A

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: V608A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: V608A

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: 99.6%
  • 20x: 98.9%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 T C 11: 48,839,082 (GRCm39) R502G probably damaging Het
A930004D18Rik G A 2: 18,032,218 (GRCm39) probably benign Het
Abhd16b T A 2: 181,135,103 (GRCm39) C2S probably damaging Het
Adam2 T C 14: 66,275,102 (GRCm39) M544V probably benign Het
Agbl3 T A 6: 34,823,843 (GRCm39) V841E possibly damaging Het
Aldh1l1 A G 6: 90,536,825 (GRCm39) D127G probably damaging Het
Ap1b1 G A 11: 4,976,363 (GRCm39) E464K probably benign Het
Cdh19 T A 1: 110,821,004 (GRCm39) E578V possibly damaging Het
Chat G A 14: 32,170,942 (GRCm39) Q186* probably null Het
Cited4 A G 4: 120,524,165 (GRCm39) T56A probably benign Het
Cpt1a T C 19: 3,402,531 (GRCm39) L63P possibly damaging Het
Havcr2 C A 11: 46,347,164 (GRCm39) A47E probably benign Het
Hdgfl1 C T 13: 26,953,239 (GRCm39) G278E probably damaging Het
Klf5 A T 14: 99,539,034 (GRCm39) Q149L probably benign Het
Klk10 A G 7: 43,433,746 (GRCm39) Y186C probably damaging Het
Krt79 C T 15: 101,846,277 (GRCm39) E224K probably damaging Het
Llgl2 A G 11: 115,725,682 (GRCm39) D10G probably damaging Het
Lrrc37a C T 11: 103,347,420 (GRCm39) V3092I unknown Het
Minar1 G T 9: 89,484,531 (GRCm39) Q289K probably benign Het
Nbeal1 A G 1: 60,368,544 (GRCm39) T2630A probably damaging Het
Ncor1 T C 11: 62,263,948 (GRCm39) T485A possibly damaging Het
Olfr908 G A 9: 38,427,385 (GRCm39) S19N probably benign Het
Or10h1b C T 17: 33,395,868 (GRCm39) T164M probably damaging Het
Or10h5 G A 17: 33,434,986 (GRCm39) H111Y probably damaging Het
Or4c104 A C 2: 88,586,290 (GRCm39) I243S possibly damaging Het
Patj G A 4: 98,570,289 (GRCm39) E1705K probably benign Het
Pcdh17 T A 14: 84,770,898 (GRCm39) D1125E probably benign Het
Pfpl G C 19: 12,406,297 (GRCm39) E183Q probably damaging Het
Pnliprp2 T C 19: 58,762,523 (GRCm39) V376A possibly damaging Het
Pramel42 A T 5: 94,685,640 (GRCm39) R433S possibly damaging Het
Scn1a A T 2: 66,158,131 (GRCm39) L414Q probably damaging Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Slc22a23 A G 13: 34,381,851 (GRCm39) V411A possibly damaging Het
Slco3a1 A T 7: 74,153,931 (GRCm39) Y214N probably damaging Het
Sned1 A G 1: 93,202,110 (GRCm39) T633A probably damaging Het
Tmem175 T C 5: 108,789,693 (GRCm39) F96S probably damaging Het
Tmf1 C T 6: 97,147,293 (GRCm39) E558K possibly damaging Het
Tsbp1 A T 17: 34,663,016 (GRCm39) Q103H probably damaging Het
Ubac2 G A 14: 122,145,636 (GRCm39) G98D possibly damaging Het
Unc50 T A 1: 37,476,248 (GRCm39) V136D possibly damaging Het
Vmn1r49 T A 6: 90,049,382 (GRCm39) M207L probably benign Het
Zfp853 T C 5: 143,275,080 (GRCm39) E195G unknown Het
Zfyve9 A T 4: 108,575,334 (GRCm39) N582K 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
R9345:Slco1c1 UTSW 6 141,493,553 (GRCm39) missense probably benign 0.22
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'- CCAGGCCATTAAGTCTGTGTC -3'
(R):5'- TGCACATTGAAGCCCTTTTG -3'

Sequencing Primer
(F):5'- AAGTCTGTGTCTCTCAGCAATCAAC -3'
(R):5'- GCACATTGAAGCCCTTTTGATTATGC -3'
Posted On 2022-08-09