Incidental Mutation 'R6544:Slco1c1'
| ID |
543452 |
| 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 |
044670-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R6544 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 141477170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000032362]
[ENSMUST00000032362]
[ENSMUST00000205214]
[ENSMUST00000205214]
[ENSMUST00000205214]
|
| AlphaFold |
Q9ERB5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032362
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
| 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 null
Transcript: ENSMUST00000032362
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
| 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 null
Transcript: ENSMUST00000032362
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
| 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 null
Transcript: ENSMUST00000205214
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205214
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000205214
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (48/48) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A030005K14Rik |
T |
A |
1: 83,036,678 (GRCm39) |
K118* |
probably null |
Het |
| Actr2 |
A |
G |
11: 20,050,933 (GRCm39) |
F17L |
probably damaging |
Het |
| Adam26b |
T |
C |
8: 43,974,818 (GRCm39) |
I61M |
probably damaging |
Het |
| Ahcyl |
A |
C |
16: 45,975,147 (GRCm39) |
S77A |
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,746,829 (GRCm39) |
|
probably benign |
Het |
| Angptl3 |
T |
C |
4: 98,919,675 (GRCm39) |
L145P |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,726,871 (GRCm39) |
T808A |
probably damaging |
Het |
| Ark2c |
T |
A |
18: 77,650,931 (GRCm39) |
|
probably benign |
Het |
| Cadm3 |
A |
G |
1: 173,194,977 (GRCm39) |
|
probably null |
Het |
| Cog7 |
C |
T |
7: 121,534,966 (GRCm39) |
R573Q |
probably damaging |
Het |
| Dchs1 |
T |
A |
7: 105,407,385 (GRCm39) |
I2110F |
probably damaging |
Het |
| Fbxo47 |
G |
A |
11: 97,747,089 (GRCm39) |
R326C |
probably damaging |
Het |
| Frmpd1 |
A |
T |
4: 45,279,024 (GRCm39) |
D583V |
probably damaging |
Het |
| Gigyf1 |
T |
A |
5: 137,523,321 (GRCm39) |
L911Q |
probably damaging |
Het |
| Gprin1 |
G |
A |
13: 54,888,124 (GRCm39) |
A50V |
possibly damaging |
Het |
| Grik4 |
A |
T |
9: 42,459,024 (GRCm39) |
Y571* |
probably null |
Het |
| Gucy2e |
A |
G |
11: 69,126,483 (GRCm39) |
V299A |
probably benign |
Het |
| Hectd2 |
C |
T |
19: 36,589,728 (GRCm39) |
L618F |
probably damaging |
Het |
| Lactbl1 |
A |
T |
4: 136,360,300 (GRCm39) |
I160F |
possibly damaging |
Het |
| Lats1 |
T |
A |
10: 7,577,434 (GRCm39) |
V186D |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,110,624 (GRCm39) |
H448R |
possibly damaging |
Het |
| Map10 |
T |
C |
8: 126,398,113 (GRCm39) |
I502T |
probably benign |
Het |
| Mok |
A |
G |
12: 110,777,189 (GRCm39) |
F239S |
probably damaging |
Het |
| Mprip |
G |
A |
11: 59,648,552 (GRCm39) |
G752D |
probably benign |
Het |
| Naip5 |
C |
A |
13: 100,359,652 (GRCm39) |
G528V |
possibly damaging |
Het |
| Neu2 |
T |
C |
1: 87,524,464 (GRCm39) |
W150R |
probably damaging |
Het |
| Or1ak2 |
T |
A |
2: 36,827,539 (GRCm39) |
M136K |
possibly damaging |
Het |
| Or5an1 |
T |
C |
19: 12,260,519 (GRCm39) |
Y36H |
probably damaging |
Het |
| Or5as1 |
T |
A |
2: 86,980,207 (GRCm39) |
Y266F |
probably damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
| Pip5k1c |
T |
A |
10: 81,144,830 (GRCm39) |
Y224N |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,758,399 (GRCm39) |
E5G |
probably damaging |
Het |
| Pspc1 |
T |
C |
14: 57,001,660 (GRCm39) |
*59W |
probably null |
Het |
| Ptprq |
T |
C |
10: 107,444,102 (GRCm39) |
T1501A |
probably damaging |
Het |
| Rorb |
G |
T |
19: 18,929,614 (GRCm39) |
P304T |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,514,444 (GRCm39) |
L1110Q |
probably damaging |
Het |
| Serpine2 |
C |
T |
1: 79,780,847 (GRCm39) |
|
probably null |
Het |
| Smarca2 |
T |
A |
19: 26,608,331 (GRCm39) |
V130D |
probably damaging |
Het |
| Sox17 |
G |
T |
1: 4,562,655 (GRCm39) |
P117T |
possibly damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,240,310 (GRCm39) |
Y371* |
probably null |
Het |
| Tdpoz2 |
T |
C |
3: 93,559,267 (GRCm39) |
D235G |
possibly damaging |
Het |
| Tns2 |
A |
C |
15: 102,022,269 (GRCm39) |
K1182N |
possibly damaging |
Het |
| Tpte |
G |
T |
8: 22,805,121 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,799,503 (GRCm39) |
I459K |
possibly damaging |
Het |
| Wdr97 |
T |
C |
15: 76,242,478 (GRCm39) |
Y823H |
probably benign |
Het |
| Zc3h15 |
G |
A |
2: 83,491,492 (GRCm39) |
R240H |
probably benign |
Het |
| Zfp455 |
C |
A |
13: 67,355,121 (GRCm39) |
L130I |
probably benign |
Het |
| Zfp777 |
A |
T |
6: 48,021,419 (GRCm39) |
S68T |
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 |
|
R6434:Slco1c1
|
UTSW |
6 |
141,493,576 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- AAAGAATGCTGGCTGTAGGGTC -3'
(R):5'- TCGAGCTGTAAACGACACCC -3'
Sequencing Primer
(F):5'- CTCGATGGCAGGATTCGTTAATC -3'
(R):5'- GACACCCAACCCTCTACCTTGAG -3'
|
| Posted On |
2018-12-26 |
Incidental Mutation