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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |