Incidental Mutation 'IGL03058:Slco1c1'
ID |
409349 |
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: 0.108)
|
Stock # |
IGL03058
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141508913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 573
(I573M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
AlphaFold |
Q9ERB5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032362
AA Change: I573M
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: I573M
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 benign
Transcript: ENSMUST00000135562
|
SMART Domains |
Protein: ENSMUSP00000138093 Gene: ENSMUSG00000030235
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 benign
Transcript: ENSMUST00000203140
AA Change: I455M
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000145058 Gene: ENSMUSG00000030235 AA Change: I455M
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 |
probably benign
Transcript: ENSMUST00000204998
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205214
AA Change: I524M
PolyPhen 2
Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: I524M
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg3 |
A |
G |
5: 105,109,112 (GRCm39) |
V395A |
probably benign |
Het |
Adck1 |
A |
T |
12: 88,425,900 (GRCm39) |
T443S |
probably benign |
Het |
Axdnd1 |
G |
A |
1: 156,204,233 (GRCm39) |
A541V |
probably benign |
Het |
B020011L13Rik |
A |
G |
1: 117,710,699 (GRCm39) |
D35G |
possibly damaging |
Het |
Bmp3 |
T |
G |
5: 99,019,953 (GRCm39) |
I125M |
probably damaging |
Het |
Cdc40 |
T |
C |
10: 40,725,824 (GRCm39) |
E215G |
probably benign |
Het |
Ces1f |
A |
G |
8: 93,996,600 (GRCm39) |
|
probably null |
Het |
Chd8 |
A |
C |
14: 52,455,730 (GRCm39) |
V986G |
probably damaging |
Het |
Clca4a |
A |
T |
3: 144,667,595 (GRCm39) |
|
probably benign |
Het |
Crhbp |
T |
A |
13: 95,580,306 (GRCm39) |
E91V |
probably damaging |
Het |
Dgkh |
T |
A |
14: 78,865,237 (GRCm39) |
H53L |
probably benign |
Het |
Dnajc1 |
T |
C |
2: 18,222,132 (GRCm39) |
D532G |
possibly damaging |
Het |
Dot1l |
T |
C |
10: 80,626,831 (GRCm39) |
S230P |
probably benign |
Het |
Evi5 |
C |
T |
5: 107,896,017 (GRCm39) |
V809M |
probably damaging |
Het |
Fbn1 |
T |
A |
2: 125,245,120 (GRCm39) |
M256L |
probably benign |
Het |
Fem1al |
T |
C |
11: 29,774,656 (GRCm39) |
D267G |
probably benign |
Het |
Fgfr2 |
C |
T |
7: 129,784,422 (GRCm39) |
D292N |
probably damaging |
Het |
Fmn1 |
C |
T |
2: 113,272,159 (GRCm39) |
|
probably benign |
Het |
Htatsf1 |
T |
A |
X: 56,104,281 (GRCm39) |
D203E |
probably damaging |
Het |
Kcnh1 |
T |
A |
1: 192,117,199 (GRCm39) |
L51Q |
probably damaging |
Het |
Lamp5 |
A |
T |
2: 135,911,047 (GRCm39) |
H260L |
probably benign |
Het |
Mindy4 |
T |
A |
6: 55,285,183 (GRCm39) |
V659D |
probably damaging |
Het |
Mkks |
C |
A |
2: 136,718,090 (GRCm39) |
L397F |
probably damaging |
Het |
Ncan |
G |
A |
8: 70,560,582 (GRCm39) |
S795F |
possibly damaging |
Het |
Or13c7d |
A |
C |
4: 43,770,255 (GRCm39) |
F252C |
probably damaging |
Het |
Or9g4 |
T |
C |
2: 85,505,025 (GRCm39) |
I157V |
probably benign |
Het |
Papolg |
T |
C |
11: 23,845,029 (GRCm39) |
M4V |
probably benign |
Het |
Pdk3 |
A |
T |
X: 92,845,892 (GRCm39) |
I143N |
probably benign |
Het |
Polr2a |
A |
T |
11: 69,635,873 (GRCm39) |
|
probably null |
Het |
Prc1 |
C |
T |
7: 79,950,873 (GRCm39) |
T78I |
probably benign |
Het |
Ret |
C |
A |
6: 118,152,028 (GRCm39) |
D569Y |
probably damaging |
Het |
Samd9l |
G |
T |
6: 3,374,980 (GRCm39) |
N760K |
probably damaging |
Het |
Slc5a12 |
T |
A |
2: 110,471,137 (GRCm39) |
S460T |
probably benign |
Het |
Spata31f1e |
G |
A |
4: 42,793,764 (GRCm39) |
L123F |
probably damaging |
Het |
Steap4 |
A |
G |
5: 8,025,664 (GRCm39) |
D75G |
probably benign |
Het |
Tcf20 |
A |
G |
15: 82,736,205 (GRCm39) |
F1749L |
probably damaging |
Het |
Thbs2 |
T |
C |
17: 14,910,231 (GRCm39) |
T123A |
possibly damaging |
Het |
Tmc3 |
T |
C |
7: 83,265,094 (GRCm39) |
S663P |
possibly damaging |
Het |
Vmn2r121 |
G |
T |
X: 123,042,618 (GRCm39) |
H180N |
probably benign |
Het |
Vnn1 |
T |
C |
10: 23,780,442 (GRCm39) |
F477L |
probably benign |
Het |
Xpnpep2 |
A |
G |
X: 47,214,302 (GRCm39) |
|
probably null |
Het |
Zfand4 |
T |
C |
6: 116,265,038 (GRCm39) |
F168L |
probably benign |
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 |
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 |
|
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 |
2016-08-02 |