Incidental Mutation 'IGL00515:Slco1c1'
| ID |
5354 |
| 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: 0.097)
|
| Stock # |
IGL00515
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 141515208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 702
(R702H)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
| AlphaFold |
Q9ERB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032362
AA Change: R701H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: R701H
| 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: ENSMUST00000111837
AA Change: R702H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000107468
Gene: ENSMUSG00000030235
AA Change: R702H
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
80 |
102 |
N/A |
INTRINSIC |
|
transmembrane domain
|
112 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
135 |
149 |
N/A |
INTRINSIC |
|
low complexity region
|
153 |
169 |
N/A |
INTRINSIC |
|
Pfam:MFS_1
|
182 |
465 |
3.8e-18 |
PFAM |
|
KAZAL
|
479 |
519 |
7.8e-3 |
SMART |
|
transmembrane domain
|
559 |
581 |
N/A |
INTRINSIC |
|
transmembrane domain
|
594 |
616 |
N/A |
INTRINSIC |
|
transmembrane domain
|
645 |
667 |
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
|
| SMART Domains |
Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
| 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: R652H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: R652H
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
T |
C |
8: 71,909,963 (GRCm39) |
E395G |
probably damaging |
Het |
| Agbl2 |
T |
C |
2: 90,624,304 (GRCm39) |
V188A |
possibly damaging |
Het |
| Arap3 |
A |
G |
18: 38,108,979 (GRCm39) |
L1225P |
probably damaging |
Het |
| Btn2a2 |
A |
T |
13: 23,662,746 (GRCm39) |
N372K |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,947,865 (GRCm39) |
D1650G |
probably damaging |
Het |
| Dip2b |
G |
A |
15: 100,072,382 (GRCm39) |
R706Q |
probably damaging |
Het |
| Dscam |
T |
A |
16: 96,409,265 (GRCm39) |
N1886I |
possibly damaging |
Het |
| Foxp2 |
A |
T |
6: 15,403,818 (GRCm39) |
H390L |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,889,080 (GRCm39) |
S227P |
probably benign |
Het |
| Hectd2 |
A |
G |
19: 36,562,336 (GRCm39) |
T148A |
probably benign |
Het |
| Helz2 |
C |
T |
2: 180,874,799 (GRCm39) |
W1898* |
probably null |
Het |
| Hmgxb4 |
C |
A |
8: 75,727,539 (GRCm39) |
P174Q |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,617,967 (GRCm39) |
|
probably null |
Het |
| Lef1 |
A |
G |
3: 130,997,926 (GRCm39) |
R312G |
probably damaging |
Het |
| Mast2 |
G |
T |
4: 116,168,526 (GRCm39) |
R805S |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,395 (GRCm39) |
R1181K |
probably benign |
Het |
| Nfatc1 |
G |
T |
18: 80,710,241 (GRCm39) |
H508Q |
probably damaging |
Het |
| Pabir1 |
T |
C |
19: 24,453,996 (GRCm39) |
D242G |
probably damaging |
Het |
| Plekhg4 |
A |
G |
8: 106,102,370 (GRCm39) |
T76A |
probably benign |
Het |
| Rln1 |
C |
T |
19: 29,309,414 (GRCm39) |
V122I |
possibly damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,094,428 (GRCm39) |
I198V |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,612,940 (GRCm39) |
H860L |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,535 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,881,686 (GRCm39) |
I535N |
probably benign |
Het |
| Tigar |
A |
C |
6: 127,065,042 (GRCm39) |
M202R |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,917 (GRCm39) |
S42G |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,955,202 (GRCm39) |
N957K |
probably damaging |
Het |
|
| Other mutations in Slco1c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation