Incidental Mutation 'R8799:Slco1c1'
ID 671434
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 # R8799 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 141470094-141515903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 141505531 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 486 (S486A)
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: S486A

PolyPhen 2 Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: S486A

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: S368A

PolyPhen 2 Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: S368A

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 possibly damaging
Transcript: ENSMUST00000205214
AA Change: S437A

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: S437A

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: 98.9%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik T A 11: 83,331,578 (GRCm39) C134S probably damaging Het
Acox3 T G 5: 35,747,052 (GRCm39) F156L probably damaging Het
Adprhl1 T C 8: 13,272,474 (GRCm39) E1428G probably benign Het
Arhgap40 A T 2: 158,354,758 (GRCm39) M15L probably benign Het
Bahcc1 C A 11: 120,177,173 (GRCm39) F2020L probably damaging Het
BC024063 A T 10: 81,945,352 (GRCm39) H324L probably benign Het
Ccdc40 C A 11: 119,155,292 (GRCm39) S1177R probably benign Het
Ccne2 A T 4: 11,201,355 (GRCm39) R294S probably benign Het
Cib1 A C 7: 79,882,291 (GRCm39) S6R probably damaging Het
Csnk2a1 A G 2: 152,099,886 (GRCm39) E114G probably damaging Het
Cxxc1 A G 18: 74,354,128 (GRCm39) probably benign Het
Decr2 A C 17: 26,307,911 (GRCm39) I47M possibly damaging Het
Dmxl2 A G 9: 54,327,027 (GRCm39) probably null Het
Dse G A 10: 34,060,149 (GRCm39) probably benign Het
Eml6 A G 11: 29,708,981 (GRCm39) V1480A probably benign Het
Erap1 A G 13: 74,805,755 (GRCm39) I165M probably benign Het
Fan1 G T 7: 64,016,406 (GRCm39) Q573K probably damaging Het
Fndc3a G A 14: 72,793,955 (GRCm39) T906I probably benign Het
Gm21915 A C 9: 40,582,006 (GRCm39) H33P possibly damaging Het
Idh1 CA CAA 1: 65,204,347 (GRCm39) probably null Het
Lama3 G T 18: 12,624,000 (GRCm39) Q1384H probably damaging Het
Lrrc34 C T 3: 30,678,979 (GRCm39) E373K probably benign Het
Ly75 A G 2: 60,178,785 (GRCm39) F677L probably damaging Het
Megf11 A G 9: 64,588,673 (GRCm39) D493G probably benign Het
Mta3 A T 17: 84,096,369 (GRCm39) I348F possibly damaging Het
Myo1d A T 11: 80,575,205 (GRCm39) F170L probably damaging Het
Nfkbia A G 12: 55,539,083 (GRCm39) probably benign Het
Nfx1 A T 4: 41,023,727 (GRCm39) E1045D probably damaging Het
Npffr2 T G 5: 89,731,177 (GRCm39) V369G probably benign Het
Or14c44 T C 7: 86,061,854 (GRCm39) C95R probably damaging Het
Or4d5 A T 9: 40,011,985 (GRCm39) M267K possibly damaging Het
Or4f59 A T 2: 111,872,528 (GRCm39) I283N probably damaging Het
Or5t18 A T 2: 86,636,575 (GRCm39) M256K probably damaging Het
Or5w13 G T 2: 87,524,057 (GRCm39) H56Q possibly damaging Het
Otoa G A 7: 120,691,894 (GRCm39) E41K possibly damaging Het
Podxl A G 6: 31,501,400 (GRCm39) V385A probably damaging Het
Ppp4r4 C T 12: 103,567,623 (GRCm39) T673M possibly damaging Het
Rbm20 G T 19: 53,821,120 (GRCm39) C525F probably damaging Het
Rnf17 A T 14: 56,737,886 (GRCm39) E1222D probably damaging Het
Ros1 G A 10: 51,922,143 (GRCm39) A2331V probably benign Het
Rrs1 T A 1: 9,615,819 (GRCm39) I24N probably damaging Het
Sec11a A G 7: 80,584,850 (GRCm39) V29A possibly damaging Het
Shisa3 T A 5: 67,768,749 (GRCm39) Y216* probably null Het
Slc22a2 A T 17: 12,831,425 (GRCm39) Y405F probably benign Het
Slc2a12 A T 10: 22,568,105 (GRCm39) M511L possibly damaging Het
Slc38a9 T A 13: 112,840,136 (GRCm39) H338Q probably damaging Het
Slit2 T C 5: 48,461,524 (GRCm39) S1524P possibly damaging Het
Spata31d1c T C 13: 65,184,140 (GRCm39) S561P possibly damaging Het
Stac3 T A 10: 127,340,781 (GRCm39) M182K probably damaging Het
Stt3b T C 9: 115,077,685 (GRCm39) E689G probably damaging Het
Suclg1 A G 6: 73,248,091 (GRCm39) K271E probably benign Het
Tas1r1 A G 4: 152,116,708 (GRCm39) Y309H probably benign Het
Tbc1d5 TGC TGCCGC 17: 51,106,969 (GRCm39) probably benign Het
Tbc1d5 TG TGCGG 17: 51,106,978 (GRCm39) probably benign Het
Tbc1d5 TTGCTGCTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTG 17: 51,106,962 (GRCm39) probably benign Het
Tbc1d5 TGC TGCGGC 17: 51,106,963 (GRCm39) probably benign Het
Tmem101 A G 11: 102,044,336 (GRCm39) F184L probably benign Het
Zfp474 A G 18: 52,772,166 (GRCm39) Q273R probably benign Het
Zfyve28 A G 5: 34,390,670 (GRCm39) L197P probably 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
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'- AGACGTTTAACAGTGGGCTC -3'
(R):5'- AGCCCCAAATGGAGGTACATG -3'

Sequencing Primer
(F):5'- ACAGTGGGCTCATTTTTAACAC -3'
(R):5'- GGGACTACTGAGTAGCCATTTAAC -3'
Posted On 2021-04-30