Incidental Mutation 'IGL01877:Slco1c1'
ID 178928
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 # IGL01877
Quality Score
Status
Chromosome 6
Chromosomal Location 141470094-141515903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141500879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 454 (S454P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032362] [ENSMUST00000135562] [ENSMUST00000203140] [ENSMUST00000204998] [ENSMUST00000205214]
AlphaFold Q9ERB5
Predicted Effect probably benign
Transcript: ENSMUST00000032362
AA Change: S453P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: S453P

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: S454P

PolyPhen 2 Score 0.980 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107468
Gene: ENSMUSG00000030235
AA Change: S454P

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 benign
Transcript: ENSMUST00000135562
AA Change: S453P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: S453P

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: S335P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: S335P

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: S404P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: S404P

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 A G 8: 41,248,982 (GRCm39) E364G probably benign Het
Aknad1 C T 3: 108,682,406 (GRCm39) P523S probably damaging Het
Alms1 T A 6: 85,599,393 (GRCm39) N1875K possibly damaging Het
Ano4 A T 10: 88,860,932 (GRCm39) Y179* probably null Het
Cacna1h A T 17: 25,607,024 (GRCm39) F965I probably damaging Het
Cfh T A 1: 140,028,567 (GRCm39) I1043F probably damaging Het
Galnt12 T A 4: 47,112,315 (GRCm39) probably benign Het
Gm10717 C T 9: 3,025,616 (GRCm39) S67L probably benign Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Gpr21 A C 2: 37,408,093 (GRCm39) N213T probably benign Het
Hexa T C 9: 59,471,163 (GRCm39) probably benign Het
Irag2 T C 6: 145,093,525 (GRCm39) S94P probably damaging Het
Itga6 T C 2: 71,668,624 (GRCm39) I521T probably benign Het
Jmjd6 G T 11: 116,733,519 (GRCm39) Q53K probably benign Het
Mylk3 T C 8: 86,085,671 (GRCm39) T225A possibly damaging Het
Pcgf2 A G 11: 97,583,359 (GRCm39) V79A probably damaging Het
Setd1b T C 5: 123,286,511 (GRCm39) M519T unknown Het
Tubb1 C A 2: 174,298,691 (GRCm39) S124R possibly damaging Het
Umodl1 A G 17: 31,201,294 (GRCm39) I408V probably benign Het
Unc13b T C 4: 43,249,583 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Vmn2r80 A G 10: 79,007,334 (GRCm39) probably null Het
Yipf4 T G 17: 74,799,383 (GRCm39) L41R possibly damaging Het
Zfyve26 A G 12: 79,334,218 (GRCm39) S267P 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
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 2014-05-07