Incidental Mutation 'IGL00825:Slco1c1'
ID 14131
Institutional Source Australian Phenomics Network (link to record)
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 # IGL00825
Quality Score
Status
Chromosome 6
Chromosomal Location 141470094-141515903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 141487868 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 79 (N79Y)
Ref Sequence ENSEMBL: ENSMUSP00000145058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032362] [ENSMUST00000135562] [ENSMUST00000203140] [ENSMUST00000204998] [ENSMUST00000205214]
AlphaFold Q9ERB5
Predicted Effect probably damaging
Transcript: ENSMUST00000032362
AA Change: N197Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: N197Y

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: ENSMUST00000111837
AA Change: N198Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107468
Gene: ENSMUSG00000030235
AA Change: N198Y

DomainStartEndE-ValueType
transmembrane domain 80 102 N/A INTRINSIC
transmembrane domain 112 134 N/A INTRINSIC
low complexity region 135 149 N/A INTRINSIC
low complexity region 153 169 N/A INTRINSIC
Pfam:MFS_1 182 465 3.8e-18 PFAM
KAZAL 479 519 7.8e-3 SMART
transmembrane domain 559 581 N/A INTRINSIC
transmembrane domain 594 616 N/A INTRINSIC
transmembrane domain 645 667 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000135562
AA Change: N197Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: N197Y

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: N79Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: N79Y

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 noncoding transcript
Transcript: ENSMUST00000203755
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
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd3 C T 18: 10,704,657 (GRCm39) V129M probably benign Het
Casp8 G A 1: 58,868,165 (GRCm39) S202N probably benign Het
Cimap1c A G 9: 56,758,975 (GRCm39) I60T probably benign Het
Clec2g C A 6: 128,957,144 (GRCm39) probably null Het
Dnah7b T C 1: 46,263,811 (GRCm39) Y2098H probably damaging Het
Dzip3 T C 16: 48,748,778 (GRCm39) K1053E probably damaging Het
Ern1 T C 11: 106,312,793 (GRCm39) K196R probably benign Het
Jcad A T 18: 4,673,516 (GRCm39) Y426F probably damaging Het
Kansl1l T C 1: 66,840,671 (GRCm39) T210A probably benign Het
Map2k2 G A 10: 80,954,052 (GRCm39) V173I probably benign Het
P3h2 A G 16: 25,811,548 (GRCm39) I225T probably damaging Het
Pld2 G A 11: 70,442,006 (GRCm39) W337* probably null Het
Ppp2r2b C T 18: 42,778,840 (GRCm39) V429M probably damaging Het
Pprc1 G T 19: 46,059,845 (GRCm39) probably benign Het
Ptpn4 A G 1: 119,587,655 (GRCm39) probably benign Het
Rap1gds1 T A 3: 138,689,588 (GRCm39) I135F possibly damaging Het
Rasa2 A T 9: 96,452,772 (GRCm39) N371K probably benign Het
Rbbp8 A G 18: 11,855,664 (GRCm39) T604A probably benign Het
Safb2 A G 17: 56,878,208 (GRCm39) probably null Het
Sec23ip C A 7: 128,369,333 (GRCm39) L686I probably damaging Het
Slc22a6 T C 19: 8,595,721 (GRCm39) V21A possibly damaging Het
Tbl1xr1 G T 3: 22,243,950 (GRCm39) probably null Het
Zfp961 T A 8: 72,721,888 (GRCm39) C134S 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
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
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
Posted On 2012-12-06