Incidental Mutation 'IGL01380:Slco1c1'
ID 78794
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 # IGL01380
Quality Score
Status
Chromosome 6
Chromosomal Location 141470094-141515903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 141485777 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 136 (Y136H)
Ref Sequence ENSEMBL: ENSMUSP00000144889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032362] [ENSMUST00000135562] [ENSMUST00000203140] [ENSMUST00000204998] [ENSMUST00000205214]
AlphaFold Q9ERB5
Predicted Effect probably damaging
Transcript: ENSMUST00000032362
AA Change: Y136H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: Y136H

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: Y137H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107468
Gene: ENSMUSG00000030235
AA Change: Y137H

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: Y136H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: Y136H

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: Y18H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: Y18H

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 possibly damaging
Transcript: ENSMUST00000204998
AA Change: V44A

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably damaging
Transcript: ENSMUST00000205214
AA Change: Y136H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: Y136H

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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,840,053 (GRCm39) T42A probably benign Het
Abcc10 C A 17: 46,634,948 (GRCm39) V352L possibly damaging Het
Ankrd44 A T 1: 54,766,724 (GRCm39) M488K probably benign Het
Ano8 A G 8: 71,933,453 (GRCm39) probably benign Het
Atp2a1 T A 7: 126,047,942 (GRCm39) M623L possibly damaging Het
Atxn10 G T 15: 85,260,896 (GRCm39) E214* probably null Het
Btla A C 16: 45,070,716 (GRCm39) D225A probably benign Het
C030048H21Rik G A 2: 26,146,659 (GRCm39) Q1218* probably null Het
Cacna1a A G 8: 85,285,746 (GRCm39) Y750C probably damaging Het
Ccdc15 A T 9: 37,187,853 (GRCm39) probably benign Het
Ccdc18 T A 5: 108,328,753 (GRCm39) I724N probably damaging Het
Cluh T A 11: 74,556,772 (GRCm39) F937L probably benign Het
Clybl G T 14: 122,616,761 (GRCm39) A259S probably benign Het
Cyp4f39 T G 17: 32,700,832 (GRCm39) I167S probably damaging Het
Dchs1 T A 7: 105,411,418 (GRCm39) D1566V probably damaging Het
Dnah3 C T 7: 119,525,787 (GRCm39) A3867T probably damaging Het
Dtwd1 T A 2: 126,001,847 (GRCm39) L189Q probably benign Het
Dusp10 T C 1: 183,801,211 (GRCm39) I326T possibly damaging Het
Eaf1 T A 14: 31,219,767 (GRCm39) probably benign Het
Eif3c C T 7: 126,163,585 (GRCm39) probably benign Het
Fam169a C T 13: 97,228,459 (GRCm39) T44M probably damaging Het
Fam184a T C 10: 53,570,782 (GRCm39) probably benign Het
Fam25a C T 14: 34,075,655 (GRCm39) A46T probably null Het
Gckr A G 5: 31,456,977 (GRCm39) probably benign Het
Gfra2 G T 14: 71,204,586 (GRCm39) probably benign Het
Gm8237 A T 14: 5,863,703 (GRCm38) probably null Het
H2-Eb2 G T 17: 34,554,783 (GRCm39) L228F probably benign Het
Igf2r T C 17: 12,914,261 (GRCm39) N1736S probably benign Het
Izumo1 T G 7: 45,276,519 (GRCm39) S361A probably benign Het
Klri1 T C 6: 129,675,761 (GRCm39) I170V probably benign Het
L3mbtl2 C T 15: 81,555,326 (GRCm39) A193V possibly damaging Het
Lats1 T A 10: 7,567,544 (GRCm39) M105K possibly damaging Het
Lrpprc T C 17: 85,030,158 (GRCm39) D1080G probably benign Het
Lrrc74a A T 12: 86,808,496 (GRCm39) M425L possibly damaging Het
Mfsd13a G T 19: 46,356,347 (GRCm39) D151Y probably damaging Het
Mst1 G A 9: 107,961,787 (GRCm39) E640K probably damaging Het
Napsa T C 7: 44,236,098 (GRCm39) V379A probably damaging Het
Or1e16 A T 11: 73,286,017 (GRCm39) M277K probably damaging Het
Or55b4 C T 7: 102,133,592 (GRCm39) C245Y probably damaging Het
Or7c19 C A 8: 85,957,775 (GRCm39) S217Y probably damaging Het
Or7c19 A T 8: 85,957,958 (GRCm39) Y278F possibly damaging Het
Otop3 T C 11: 115,237,237 (GRCm39) V567A probably damaging Het
Oxsr1 A T 9: 119,089,167 (GRCm39) probably benign Het
Pak2 A T 16: 31,860,362 (GRCm39) V167E probably benign Het
Pcdhb16 A G 18: 37,612,498 (GRCm39) H486R probably benign Het
Plekha5 C T 6: 140,516,042 (GRCm39) probably benign Het
Rbm6 T C 9: 107,665,548 (GRCm39) D616G probably damaging Het
Sf3b1 T C 1: 55,027,108 (GRCm39) Y1249C probably damaging Het
Sipa1l3 T C 7: 29,030,797 (GRCm39) H534R possibly damaging Het
Smarca4 A G 9: 21,590,369 (GRCm39) M1333V probably benign Het
Smc4 A G 3: 68,933,161 (GRCm39) D54G probably damaging Het
Spag5 T A 11: 78,195,443 (GRCm39) V250E possibly damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Suv39h2 T A 2: 3,465,296 (GRCm39) probably benign Het
Taar8b T A 10: 23,968,005 (GRCm39) H63L probably damaging Het
Tex2 G A 11: 106,435,141 (GRCm39) Q264* probably null Het
Thnsl2 A C 6: 71,115,740 (GRCm39) S156A probably benign Het
Tmtc4 G T 14: 123,163,366 (GRCm39) probably benign Het
Usp25 T C 16: 76,890,566 (GRCm39) L758P probably benign Het
Zfyve1 G A 12: 83,599,281 (GRCm39) R144C probably damaging Het
Zpld1 A G 16: 55,072,133 (GRCm39) V42A 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
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 2013-11-05