Incidental Mutation 'R6434:Slco1c1'
ID |
518694 |
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 |
044572-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6434 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141493576 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 371
(S371P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138093
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
AlphaFold |
Q9ERB5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032362
AA Change: S371P
PolyPhen 2
Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: S371P
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: S371P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138093 Gene: ENSMUSG00000030235 AA Change: S371P
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: S253P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000145058 Gene: ENSMUSG00000030235 AA Change: S253P
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: S322P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: S322P
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 |
0.6488 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
Validation Efficiency |
98% (57/58) |
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 |
Alcam |
A |
C |
16: 52,109,190 (GRCm39) |
|
probably null |
Het |
Ankle2 |
A |
G |
5: 110,401,759 (GRCm39) |
Y807C |
probably damaging |
Het |
Arhgef26 |
A |
C |
3: 62,336,335 (GRCm39) |
M625L |
probably damaging |
Het |
Aspdh |
G |
A |
7: 44,116,474 (GRCm39) |
A86T |
probably damaging |
Het |
Atl1 |
G |
T |
12: 70,006,199 (GRCm39) |
E502* |
probably null |
Het |
Atp6v1c1 |
T |
C |
15: 38,677,790 (GRCm39) |
F105S |
probably damaging |
Het |
Auh |
C |
A |
13: 53,083,446 (GRCm39) |
G17C |
probably benign |
Het |
Ccdc81 |
T |
C |
7: 89,525,352 (GRCm39) |
Y474C |
probably damaging |
Het |
Ccdc82 |
T |
C |
9: 13,251,659 (GRCm39) |
|
probably benign |
Het |
Ccdc96 |
T |
G |
5: 36,643,707 (GRCm39) |
V571G |
probably damaging |
Het |
Col6a5 |
C |
A |
9: 105,814,544 (GRCm39) |
E489D |
unknown |
Het |
Dchs2 |
T |
A |
3: 83,176,577 (GRCm39) |
I845N |
probably damaging |
Het |
Dnajc11 |
T |
C |
4: 152,063,751 (GRCm39) |
V449A |
probably damaging |
Het |
Ect2 |
A |
T |
3: 27,193,268 (GRCm39) |
Y269* |
probably null |
Het |
Egfr |
T |
C |
11: 16,819,294 (GRCm39) |
Y275H |
probably benign |
Het |
Fan1 |
T |
A |
7: 64,004,129 (GRCm39) |
D779V |
probably damaging |
Het |
Fancm |
T |
C |
12: 65,123,942 (GRCm39) |
V200A |
probably damaging |
Het |
Frem1 |
A |
G |
4: 82,884,253 (GRCm39) |
I1214T |
probably benign |
Het |
Gm3415 |
T |
A |
5: 146,494,752 (GRCm39) |
F138L |
probably benign |
Het |
Gtse1 |
C |
A |
15: 85,759,370 (GRCm39) |
T626K |
probably benign |
Het |
Herc1 |
T |
A |
9: 66,393,464 (GRCm39) |
H4114Q |
probably damaging |
Het |
Ifi44 |
T |
A |
3: 151,454,826 (GRCm39) |
N133I |
probably benign |
Het |
Ilf3 |
A |
G |
9: 21,314,447 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,437,919 (GRCm39) |
T593A |
probably damaging |
Het |
Iqgap2 |
A |
T |
13: 95,819,441 (GRCm39) |
W634R |
possibly damaging |
Het |
Kcnh4 |
T |
A |
11: 100,641,105 (GRCm39) |
N448I |
probably damaging |
Het |
Klhl33 |
G |
A |
14: 51,130,564 (GRCm39) |
A310V |
probably damaging |
Het |
Klra9 |
G |
T |
6: 130,155,995 (GRCm39) |
Y253* |
probably null |
Het |
Lrig2 |
T |
C |
3: 104,398,863 (GRCm39) |
K222E |
possibly damaging |
Het |
Manba |
G |
A |
3: 135,217,734 (GRCm39) |
|
probably null |
Het |
Mga |
A |
T |
2: 119,754,419 (GRCm39) |
Q976L |
probably damaging |
Het |
Mtmr4 |
A |
G |
11: 87,504,309 (GRCm39) |
D1086G |
probably damaging |
Het |
Muc20 |
A |
G |
16: 32,615,176 (GRCm39) |
V67A |
probably benign |
Het |
Myh3 |
T |
A |
11: 66,973,193 (GRCm39) |
L97Q |
probably damaging |
Het |
Nars1 |
T |
C |
18: 64,640,872 (GRCm39) |
T195A |
probably benign |
Het |
Npat |
A |
T |
9: 53,474,739 (GRCm39) |
I844L |
possibly damaging |
Het |
Nrxn3 |
T |
C |
12: 88,762,285 (GRCm39) |
F111L |
probably benign |
Het |
Obp2b |
T |
C |
2: 25,628,599 (GRCm39) |
Y118H |
probably damaging |
Het |
Or5w1 |
T |
A |
2: 87,486,558 (GRCm39) |
K236* |
probably null |
Het |
Or7e170 |
A |
T |
9: 19,795,141 (GRCm39) |
Y153* |
probably null |
Het |
Patj |
A |
G |
4: 98,379,866 (GRCm39) |
D215G |
probably damaging |
Het |
Pex1 |
T |
A |
5: 3,680,196 (GRCm39) |
Y979* |
probably null |
Het |
Septin3 |
G |
A |
15: 82,163,804 (GRCm39) |
V54I |
possibly damaging |
Het |
Shc3 |
A |
G |
13: 51,603,326 (GRCm39) |
Y260H |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,674,477 (GRCm39) |
T942A |
probably benign |
Het |
Snrnp200 |
T |
A |
2: 127,080,574 (GRCm39) |
I2029N |
probably damaging |
Het |
Syne1 |
A |
G |
10: 5,268,422 (GRCm39) |
V2089A |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,088,230 (GRCm39) |
S5016P |
probably damaging |
Het |
Tril |
G |
C |
6: 53,795,493 (GRCm39) |
D576E |
probably damaging |
Het |
Tubb2b |
C |
T |
13: 34,311,561 (GRCm39) |
A411T |
probably damaging |
Het |
Ubr4 |
T |
C |
4: 139,156,949 (GRCm39) |
Y2325H |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,608,395 (GRCm39) |
C1547* |
probably null |
Het |
Utrn |
A |
T |
10: 12,401,171 (GRCm39) |
W98R |
probably damaging |
Het |
Vps35 |
C |
T |
8: 86,000,124 (GRCm39) |
D501N |
possibly damaging |
Het |
Wdr48 |
T |
C |
9: 119,745,879 (GRCm39) |
S421P |
possibly damaging |
Het |
Yju2b |
A |
G |
8: 84,989,630 (GRCm39) |
I63T |
probably damaging |
Het |
Zfp719 |
C |
A |
7: 43,240,412 (GRCm39) |
H667N |
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 |
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 |
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'- GTGCATGCCTAGATTCAAGCC -3'
(R):5'- CCCACCATGTATATATTCATGCTAC -3'
Sequencing Primer
(F):5'- TGCCTAGATTCAAGCCCAGGC -3'
(R):5'- CAGAAAGGTGGACATACCAA -3'
|
Posted On |
2018-05-24 |