Incidental Mutation 'R7050:Slco1c1'
ID 547528
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 045241-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7050 (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 A at 141493652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 278 (F278Y)
Ref Sequence ENSEMBL: ENSMUSP00000145058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032362] [ENSMUST00000135562] [ENSMUST00000203140] [ENSMUST00000204998] [ENSMUST00000205214]
AlphaFold Q9ERB5
Predicted Effect possibly damaging
Transcript: ENSMUST00000032362
AA Change: F396Y

PolyPhen 2 Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: F396Y

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: F396Y

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: F396Y

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: F278Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: F278Y

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 damaging
Transcript: ENSMUST00000205214
AA Change: F347Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: F347Y

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 96% (47/49)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b G A 11: 109,864,544 (GRCm39) A346V possibly damaging Het
Adcy5 A T 16: 35,124,070 (GRCm39) M1250L possibly damaging Het
Arhgef38 T C 3: 132,839,388 (GRCm39) probably benign Het
Ascc3 T A 10: 50,716,446 (GRCm39) I1944N probably benign Het
Cabin1 G T 10: 75,549,376 (GRCm39) P1343Q probably damaging Het
Cbr3 A T 16: 93,487,282 (GRCm39) Q155L possibly damaging Het
Cd44 A G 2: 102,644,482 (GRCm39) V577A probably damaging Het
Coil C T 11: 88,872,014 (GRCm39) T125I possibly damaging Het
Fmo3 T C 1: 162,791,473 (GRCm39) N268S probably damaging Het
Fnip2 T C 3: 79,413,577 (GRCm39) T248A probably damaging Het
Ggt7 G A 2: 155,348,295 (GRCm39) T43I probably benign Het
Gm3250 C A 10: 77,617,814 (GRCm39) C188F possibly damaging Het
Iqce G A 5: 140,651,846 (GRCm39) S375F possibly damaging Het
Iqgap3 A G 3: 88,006,220 (GRCm39) T544A probably damaging Het
Islr A G 9: 58,065,000 (GRCm39) L169P probably damaging Het
Kdr G T 5: 76,110,780 (GRCm39) T904N probably damaging Het
Mink1 A G 11: 70,503,158 (GRCm39) T974A possibly damaging Het
Mms19 A G 19: 41,939,185 (GRCm39) probably null Het
Mycl T C 4: 122,890,813 (GRCm39) probably null Het
Nab1 A T 1: 52,529,894 (GRCm39) M1K probably null Het
Naip6 C T 13: 100,452,007 (GRCm39) G202R probably damaging Het
Nbeal2 G A 9: 110,457,788 (GRCm39) S2159L probably damaging Het
Neb A T 2: 52,112,888 (GRCm39) M4302K possibly damaging Het
Npy1r A G 8: 67,157,192 (GRCm39) D204G probably benign Het
Or2q1 T A 6: 42,794,504 (GRCm39) V33D possibly damaging Het
Pkdcc T A 17: 83,523,073 (GRCm39) I60N possibly damaging Het
Plcxd3 T C 15: 4,546,200 (GRCm39) V68A probably damaging Het
Prss36 G T 7: 127,543,937 (GRCm39) R145S possibly damaging Het
Pygl C A 12: 70,266,396 (GRCm39) G40C probably damaging Het
Rev1 A G 1: 38,093,352 (GRCm39) L1064P probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Serpina3k T C 12: 104,307,403 (GRCm39) F212L possibly damaging Het
Slc16a4 A T 3: 107,208,148 (GRCm39) E219D probably benign Het
Slc6a20b A T 9: 123,427,608 (GRCm39) W434R probably damaging Het
Tbx21 T G 11: 97,005,596 (GRCm39) D123A probably benign Het
Trp73 A G 4: 154,165,899 (GRCm39) F35L probably damaging Het
Tspan17 T C 13: 54,943,876 (GRCm39) V135A probably benign Het
Uba2 G A 7: 33,845,687 (GRCm39) Q479* probably null Het
Ubr2 A G 17: 47,272,528 (GRCm39) V889A probably benign Het
Unc80 A G 1: 66,590,067 (GRCm39) probably null Het
Vinac1 T C 2: 128,869,891 (GRCm39) probably null Het
Vmn1r45 A T 6: 89,910,703 (GRCm39) I89N probably damaging Het
Vmn2r11 A G 5: 109,202,657 (GRCm39) I140T probably benign Het
Yipf2 A T 9: 21,503,474 (GRCm39) D24E probably benign Het
Zfp251 T G 15: 76,738,496 (GRCm39) Q199P possibly damaging Het
Zfp37 A T 4: 62,109,908 (GRCm39) N385K possibly damaging Het
Zfp655 G A 5: 145,181,545 (GRCm39) E468K 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
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'- GCAGACTGCAATATATACCACCTGAG -3'
(R):5'- CCCACCATGTATATATTCATGCTAC -3'

Sequencing Primer
(F):5'- ACCTTATCTCCAAGGACTCTATATTG -3'
(R):5'- GGAGCAATATAATGTTACTGAGA -3'
Posted On 2019-05-13