Incidental Mutation 'R5261:Slco1c1'
ID |
401435 |
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 |
042830-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R5261 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141492502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 246
(F246S)
|
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: F295S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: F295S
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: ENSMUST00000135562
AA Change: F295S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000138093 Gene: ENSMUSG00000030235 AA Change: F295S
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: F177S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000145058 Gene: ENSMUSG00000030235 AA Change: F177S
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 |
noncoding transcript
Transcript: ENSMUST00000203755
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204998
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205214
AA Change: F246S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: F246S
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 |
|
Meta Mutation Damage Score |
0.8711 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
96% (64/67) |
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6820408C15Rik |
C |
G |
2: 152,282,777 (GRCm39) |
P211A |
probably damaging |
Het |
Ambra1 |
G |
A |
2: 91,715,951 (GRCm39) |
V761M |
probably damaging |
Het |
Amfr |
T |
A |
8: 94,702,798 (GRCm39) |
|
probably null |
Het |
Asphd1 |
C |
A |
7: 126,545,287 (GRCm39) |
A357S |
probably benign |
Het |
Brd3 |
C |
A |
2: 27,353,931 (GRCm39) |
Q60H |
probably damaging |
Het |
Cd96 |
T |
A |
16: 45,890,016 (GRCm39) |
M336L |
probably benign |
Het |
Cep152 |
T |
A |
2: 125,406,125 (GRCm39) |
H1469L |
probably benign |
Het |
Coro1a |
G |
T |
7: 126,299,816 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,171,555 (GRCm39) |
L871Q |
probably benign |
Het |
Depdc5 |
C |
T |
5: 33,095,635 (GRCm39) |
P824L |
probably damaging |
Het |
Enpep |
T |
G |
3: 129,099,075 (GRCm39) |
D467A |
probably damaging |
Het |
Extl2 |
G |
A |
3: 115,821,013 (GRCm39) |
A273T |
probably benign |
Het |
Foxi3 |
T |
A |
6: 70,937,500 (GRCm39) |
F218Y |
probably damaging |
Het |
Golga2 |
A |
G |
2: 32,194,166 (GRCm39) |
M521V |
probably benign |
Het |
Gpr142 |
T |
A |
11: 114,695,168 (GRCm39) |
N44K |
probably damaging |
Het |
Gtf2ird2 |
A |
G |
5: 134,245,061 (GRCm39) |
I440V |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,642,028 (GRCm39) |
K698I |
probably damaging |
Het |
Hspa1b |
T |
C |
17: 35,177,983 (GRCm39) |
M1V |
probably null |
Het |
Ints9 |
T |
A |
14: 65,245,521 (GRCm39) |
Y260N |
probably benign |
Het |
Khdc3 |
T |
G |
9: 73,010,768 (GRCm39) |
V182G |
possibly damaging |
Het |
Ky |
A |
G |
9: 102,414,798 (GRCm39) |
|
probably null |
Het |
Map2k1 |
T |
A |
9: 64,098,843 (GRCm39) |
I263F |
probably damaging |
Het |
Or13a18 |
A |
C |
7: 140,190,576 (GRCm39) |
I166L |
probably benign |
Het |
Or2t47 |
T |
C |
11: 58,442,877 (GRCm39) |
S63G |
probably benign |
Het |
Or5ak25 |
A |
G |
2: 85,269,241 (GRCm39) |
V87A |
probably benign |
Het |
Otogl |
T |
A |
10: 107,613,453 (GRCm39) |
H2004L |
probably benign |
Het |
Palmd |
T |
C |
3: 116,717,009 (GRCm39) |
H496R |
probably benign |
Het |
Papolb |
C |
G |
5: 142,515,409 (GRCm39) |
R78P |
possibly damaging |
Het |
Pcdh10 |
G |
A |
3: 45,336,247 (GRCm39) |
G854R |
probably damaging |
Het |
Pdcd11 |
A |
G |
19: 47,101,976 (GRCm39) |
I1054V |
probably benign |
Het |
Pik3ap1 |
A |
T |
19: 41,364,545 (GRCm39) |
L58Q |
probably damaging |
Het |
Ppp2ca |
A |
G |
11: 51,989,937 (GRCm39) |
K21R |
probably benign |
Het |
Prmt5 |
A |
C |
14: 54,745,373 (GRCm39) |
I598S |
probably damaging |
Het |
Pycr1 |
T |
A |
11: 120,532,050 (GRCm39) |
I239F |
probably damaging |
Het |
R3hdm2 |
C |
T |
10: 127,334,285 (GRCm39) |
R896C |
probably damaging |
Het |
Rev3l |
C |
T |
10: 39,722,725 (GRCm39) |
P699S |
probably damaging |
Het |
Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
Sel1l |
A |
T |
12: 91,791,658 (GRCm39) |
M351K |
possibly damaging |
Het |
Sesn2 |
A |
G |
4: 132,226,617 (GRCm39) |
L159P |
probably damaging |
Het |
Slc35f4 |
T |
A |
14: 49,540,946 (GRCm39) |
|
probably benign |
Het |
Slc3a1 |
C |
A |
17: 85,359,403 (GRCm39) |
N409K |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Socs2 |
T |
G |
10: 95,228,681 (GRCm39) |
I190L |
unknown |
Het |
Srsf1 |
T |
A |
11: 87,938,684 (GRCm39) |
I7N |
possibly damaging |
Het |
Stox1 |
T |
A |
10: 62,503,620 (GRCm39) |
H145L |
probably damaging |
Het |
Trap1 |
A |
T |
16: 3,874,286 (GRCm39) |
I243N |
probably damaging |
Het |
Trav7-3 |
T |
C |
14: 53,681,207 (GRCm39) |
I83T |
probably benign |
Het |
Trmt9b |
T |
C |
8: 36,979,078 (GRCm39) |
I227T |
probably benign |
Het |
Tuft1 |
A |
T |
3: 94,546,712 (GRCm39) |
I42K |
possibly damaging |
Het |
Umps |
A |
G |
16: 33,787,344 (GRCm39) |
V3A |
probably benign |
Het |
Vim |
A |
C |
2: 13,579,643 (GRCm39) |
E134A |
probably null |
Het |
Vmn1r28 |
C |
A |
6: 58,242,524 (GRCm39) |
H122Q |
probably benign |
Het |
Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
Vsig10l |
T |
A |
7: 43,120,274 (GRCm39) |
V760D |
probably damaging |
Het |
Xrn1 |
A |
G |
9: 95,927,596 (GRCm39) |
D1460G |
probably benign |
Het |
Zfp282 |
A |
G |
6: 47,874,824 (GRCm39) |
D343G |
probably damaging |
Het |
Zfp35 |
A |
G |
18: 24,136,778 (GRCm39) |
H374R |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGGTAGAATTGTTGCTAGAATT -3'
(R):5'- GGCCCATACACCTCCTCTAG -3'
Sequencing Primer
(F):5'- TTGTTGCTAGAATTTGTTTTCTTCAG -3'
(R):5'- GATGTACGGTAGCCCATGATC -3'
|
Posted On |
2016-07-06 |