Incidental Mutation 'IGL02852:Slco1c1'
| ID |
361923 |
| 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: 0.108)
|
| Stock # |
IGL02852
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 141493550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 313
(L313*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
| AlphaFold |
Q9ERB5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032362
AA Change: L362*
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: L362*
| 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: ENSMUST00000135562
AA Change: L362*
|
| SMART Domains |
Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: L362*
| 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 null
Transcript: ENSMUST00000203140
AA Change: L244*
|
| SMART Domains |
Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: L244*
| 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 null
Transcript: ENSMUST00000205214
AA Change: L313*
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: L313*
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcar1 |
A |
T |
8: 112,441,979 (GRCm39) |
L287* |
probably null |
Het |
| Birc2 |
A |
G |
9: 7,854,484 (GRCm39) |
I402T |
probably damaging |
Het |
| Btrc |
T |
A |
19: 45,501,095 (GRCm39) |
L153* |
probably null |
Het |
| C2cd3 |
T |
C |
7: 100,079,396 (GRCm39) |
F1245L |
probably damaging |
Het |
| Cabp7 |
C |
T |
11: 4,688,912 (GRCm39) |
R186H |
probably damaging |
Het |
| Cdk5r2 |
T |
C |
1: 74,895,298 (GRCm39) |
S348P |
probably benign |
Het |
| Cfhr4 |
T |
C |
1: 139,701,754 (GRCm39) |
Y120C |
probably damaging |
Het |
| Clca3a2 |
T |
C |
3: 144,512,104 (GRCm39) |
D544G |
probably damaging |
Het |
| Col6a6 |
A |
C |
9: 105,661,272 (GRCm39) |
I279S |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 15,945,728 (GRCm39) |
T3562S |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,863,135 (GRCm39) |
S61P |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,722,320 (GRCm39) |
M266K |
possibly damaging |
Het |
| Gm14226 |
G |
A |
2: 154,866,841 (GRCm39) |
S266N |
possibly damaging |
Het |
| Gm28047 |
A |
G |
15: 102,446,653 (GRCm39) |
V400A |
possibly damaging |
Het |
| Gucy1a2 |
A |
G |
9: 3,759,691 (GRCm39) |
D499G |
probably benign |
Het |
| Hoxb7 |
C |
T |
11: 96,180,320 (GRCm39) |
T173M |
possibly damaging |
Het |
| Kcnn3 |
T |
A |
3: 89,516,923 (GRCm39) |
I444N |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,375,785 (GRCm39) |
I27T |
probably damaging |
Het |
| Krtap8-1 |
A |
G |
16: 89,284,753 (GRCm39) |
Y15H |
probably benign |
Het |
| Myo18b |
C |
T |
5: 112,863,377 (GRCm39) |
V2154I |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,435,150 (GRCm39) |
D372G |
probably damaging |
Het |
| Pfkp |
G |
T |
13: 6,655,059 (GRCm39) |
P340Q |
possibly damaging |
Het |
| Plcd3 |
C |
T |
11: 102,964,631 (GRCm39) |
R580Q |
probably damaging |
Het |
| Pou5f2 |
G |
A |
13: 78,173,178 (GRCm39) |
R40Q |
probably benign |
Het |
| Ppara |
G |
T |
15: 85,682,079 (GRCm39) |
M258I |
probably benign |
Het |
| Proc |
A |
G |
18: 32,258,208 (GRCm39) |
S246P |
probably damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,681,454 (GRCm39) |
|
probably null |
Het |
| Ripor2 |
T |
C |
13: 24,879,681 (GRCm39) |
F383S |
probably damaging |
Het |
| Rnf39 |
T |
C |
17: 37,256,094 (GRCm39) |
|
probably benign |
Het |
| Sema6c |
C |
A |
3: 95,077,295 (GRCm39) |
|
probably benign |
Het |
| Slc16a5 |
A |
G |
11: 115,360,405 (GRCm39) |
E196G |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,402,014 (GRCm39) |
F789S |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,071,676 (GRCm39) |
M2219V |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,197,920 (GRCm39) |
H380L |
probably damaging |
Het |
| Tek |
T |
C |
4: 94,743,561 (GRCm39) |
Y859H |
probably damaging |
Het |
| Trcg1 |
A |
T |
9: 57,148,595 (GRCm39) |
T56S |
possibly damaging |
Het |
| Ttc23 |
T |
A |
7: 67,316,903 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,774,648 (GRCm39) |
|
probably benign |
Het |
| Uba1y |
C |
T |
Y: 828,841 (GRCm39) |
R550* |
probably null |
Het |
| Ubqln4 |
T |
C |
3: 88,462,778 (GRCm39) |
V81A |
probably damaging |
Het |
| Ugt2b38 |
C |
T |
5: 87,559,600 (GRCm39) |
E431K |
probably benign |
Het |
| Vmn1r85 |
T |
G |
7: 12,819,010 (GRCm39) |
I45L |
possibly damaging |
Het |
| Vmn2r68 |
T |
G |
7: 84,882,595 (GRCm39) |
S386R |
probably damaging |
Het |
| Washc4 |
A |
G |
10: 83,419,173 (GRCm39) |
T902A |
possibly damaging |
Het |
| Zc3h15 |
G |
A |
2: 83,475,015 (GRCm39) |
A7T |
possibly damaging |
Het |
| Zdhhc19 |
A |
C |
16: 32,316,460 (GRCm39) |
T72P |
probably damaging |
Het |
| Zfp729a |
A |
T |
13: 67,768,070 (GRCm39) |
S720T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,740,942 (GRCm39) |
K441R |
probably damaging |
Het |
| Zfy2 |
C |
T |
Y: 2,106,894 (GRCm39) |
G580D |
probably benign |
Het |
| Zfy2 |
T |
A |
Y: 2,117,188 (GRCm39) |
H213L |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation