Incidental Mutation 'R9345:Slco1c1'
ID |
707736 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1c1
|
Ensembl Gene |
ENSMUSG00000030235 |
Gene Name |
solute carrier organic anion transporter family, member 1c1 |
Synonyms |
OATP-F, Slc21a14 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R9345 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 141493553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Phenylalanine
at position 363
(C363F)
|
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: C363F
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: C363F
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
AA Change: C363F
PolyPhen 2
Score 0.241 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000138093 Gene: ENSMUSG00000030235 AA Change: C363F
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 |
possibly damaging
Transcript: ENSMUST00000203140
AA Change: C245F
PolyPhen 2
Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000145058 Gene: ENSMUSG00000030235 AA Change: C245F
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: C314F
PolyPhen 2
Score 0.224 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: C314F
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc2 |
A |
T |
19: 43,807,869 (GRCm39) |
I837F |
probably damaging |
Het |
Acot3 |
A |
G |
12: 84,103,866 (GRCm39) |
Y225C |
probably benign |
Het |
Adam17 |
A |
G |
12: 21,378,056 (GRCm39) |
V710A |
probably damaging |
Het |
Ank3 |
A |
G |
10: 69,761,899 (GRCm39) |
|
probably benign |
Het |
Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
Atp10b |
T |
A |
11: 43,094,024 (GRCm39) |
S523T |
probably damaging |
Het |
Bptf |
A |
G |
11: 106,971,588 (GRCm39) |
V973A |
possibly damaging |
Het |
Ccdc24 |
C |
T |
4: 117,729,691 (GRCm39) |
W9* |
probably null |
Het |
Ccdc82 |
A |
G |
9: 13,281,891 (GRCm39) |
T439A |
probably benign |
Het |
Ccne2 |
C |
A |
4: 11,199,420 (GRCm39) |
Q274K |
probably benign |
Het |
Clec11a |
T |
C |
7: 43,956,189 (GRCm39) |
M1V |
probably null |
Het |
Col12a1 |
T |
A |
9: 79,541,017 (GRCm39) |
Y2370F |
probably benign |
Het |
Cyp4a32 |
C |
T |
4: 115,467,699 (GRCm39) |
H228Y |
probably benign |
Het |
Dchs2 |
G |
A |
3: 83,036,101 (GRCm39) |
G283S |
probably benign |
Het |
Dis3 |
T |
C |
14: 99,318,814 (GRCm39) |
T659A |
probably damaging |
Het |
Dock5 |
T |
C |
14: 68,060,071 (GRCm39) |
D456G |
possibly damaging |
Het |
Efr3b |
T |
A |
12: 4,033,409 (GRCm39) |
K249* |
probably null |
Het |
Emilin2 |
C |
T |
17: 71,581,539 (GRCm39) |
V396I |
probably benign |
Het |
Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
Fasn |
A |
T |
11: 120,706,735 (GRCm39) |
S947T |
probably benign |
Het |
Fryl |
C |
T |
5: 73,207,754 (GRCm39) |
C2472Y |
probably benign |
Het |
Gm3159 |
A |
T |
14: 4,398,488 (GRCm38) |
I60L |
probably benign |
Het |
Gm3402 |
A |
T |
5: 146,451,330 (GRCm39) |
N63Y |
probably damaging |
Het |
Gm49355 |
C |
T |
14: 12,296,641 (GRCm38) |
|
probably benign |
Het |
Grm2 |
A |
G |
9: 106,528,287 (GRCm39) |
L199P |
probably damaging |
Het |
Hck |
T |
A |
2: 152,992,904 (GRCm39) |
H470Q |
probably benign |
Het |
Hsd17b4 |
T |
C |
18: 50,299,981 (GRCm39) |
Y413H |
probably benign |
Het |
Ice1 |
A |
G |
13: 70,740,758 (GRCm39) |
F80L |
|
Het |
Ifrd1 |
G |
A |
12: 40,267,458 (GRCm39) |
P38S |
possibly damaging |
Het |
Itgad |
A |
G |
7: 127,788,479 (GRCm39) |
T431A |
probably benign |
Het |
Kcnd3 |
A |
T |
3: 105,566,003 (GRCm39) |
I395F |
probably damaging |
Het |
Kif20a |
A |
G |
18: 34,759,779 (GRCm39) |
E58G |
probably benign |
Het |
Kras |
A |
T |
6: 145,192,442 (GRCm39) |
D30E |
probably benign |
Het |
Lmbrd1 |
C |
T |
1: 24,724,593 (GRCm39) |
A59V |
probably damaging |
Het |
Lrrc20 |
T |
C |
10: 61,383,890 (GRCm39) |
L99P |
probably damaging |
Het |
Mfn2 |
T |
C |
4: 147,966,649 (GRCm39) |
D514G |
probably benign |
Het |
Myl2 |
A |
G |
5: 122,242,902 (GRCm39) |
E96G |
probably damaging |
Het |
Nppb |
T |
G |
4: 148,070,518 (GRCm39) |
L29R |
probably damaging |
Het |
Or51f1e |
C |
T |
7: 102,747,713 (GRCm39) |
A255V |
possibly damaging |
Het |
Or5ak22 |
A |
G |
2: 85,230,097 (GRCm39) |
V260A |
probably benign |
Het |
Pcdhb14 |
A |
G |
18: 37,581,281 (GRCm39) |
H129R |
probably damaging |
Het |
Pex11g |
T |
C |
8: 3,509,363 (GRCm39) |
N188S |
possibly damaging |
Het |
Pla2g3 |
A |
G |
11: 3,442,170 (GRCm39) |
D410G |
probably benign |
Het |
Pnma1 |
C |
A |
12: 84,194,232 (GRCm39) |
W157L |
probably benign |
Het |
Pofut2 |
A |
G |
10: 77,103,090 (GRCm39) |
Y362C |
probably damaging |
Het |
Ppp1r14c |
C |
A |
10: 3,373,567 (GRCm39) |
S126* |
probably null |
Het |
Psg27 |
T |
C |
7: 18,299,081 (GRCm39) |
H80R |
probably benign |
Het |
Rere |
T |
A |
4: 150,554,770 (GRCm39) |
V156D |
probably damaging |
Het |
Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
Samd8 |
G |
A |
14: 21,830,227 (GRCm39) |
V281I |
probably benign |
Het |
Scarf1 |
A |
G |
11: 75,404,401 (GRCm39) |
|
probably benign |
Het |
Scgb2b27 |
A |
G |
7: 33,712,722 (GRCm39) |
L40P |
probably benign |
Het |
Sdk1 |
A |
T |
5: 142,147,708 (GRCm39) |
H1780L |
probably benign |
Het |
Slc10a6 |
T |
C |
5: 103,754,521 (GRCm39) |
T337A |
probably benign |
Het |
Slc44a4 |
A |
T |
17: 35,140,219 (GRCm39) |
D208V |
probably benign |
Het |
Smg5 |
T |
A |
3: 88,261,848 (GRCm39) |
L707Q |
probably damaging |
Het |
Supt5 |
A |
T |
7: 28,016,412 (GRCm39) |
D789E |
probably benign |
Het |
Tbcd |
A |
G |
11: 121,464,648 (GRCm39) |
Y561C |
probably damaging |
Het |
Tectb |
T |
C |
19: 55,183,097 (GRCm39) |
L316P |
probably benign |
Het |
Thrsp |
T |
C |
7: 97,066,326 (GRCm39) |
T129A |
possibly damaging |
Het |
Tnpo3 |
T |
C |
6: 29,558,851 (GRCm39) |
H693R |
probably benign |
Het |
Trim54 |
T |
G |
5: 31,294,478 (GRCm39) |
D335E |
probably benign |
Het |
Tsr1 |
A |
G |
11: 74,790,126 (GRCm39) |
D107G |
probably benign |
Het |
Ttc41 |
A |
T |
10: 86,595,089 (GRCm39) |
E954D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,538,595 (GRCm39) |
L34701P |
possibly damaging |
Het |
Vmn1r119 |
A |
C |
7: 20,746,034 (GRCm39) |
V116G |
probably damaging |
Het |
Vmn1r219 |
G |
A |
13: 23,346,769 (GRCm39) |
|
probably benign |
Het |
Zc3h12c |
T |
A |
9: 52,028,010 (GRCm39) |
M470L |
probably benign |
Het |
Zmynd8 |
T |
C |
2: 165,654,668 (GRCm39) |
K615E |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGTAGGAGTGTGCATGC -3'
(R):5'- CCCACCATGTATATATTCATGCTAC -3'
Sequencing Primer
(F):5'- GTGCATGCCTAGATTCAAGC -3'
(R):5'- GCAATATAATGTTACTGAGAATGTGC -3'
|
Posted On |
2022-04-18 |