Incidental Mutation 'R3004:Slco1c1'
| ID |
257391 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3004 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 141478380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 48
(A48S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144889
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
| AlphaFold |
Q9ERB5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032362
AA Change: A48S
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: A48S
| 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: ENSMUST00000111837
AA Change: A49S
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000107468
Gene: ENSMUSG00000030235
AA Change: A49S
| 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 |
possibly damaging
Transcript: ENSMUST00000135562
AA Change: A48S
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: A48S
| 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 damaging
Transcript: ENSMUST00000205214
AA Change: A48S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: A48S
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
G |
A |
7: 80,753,103 (GRCm39) |
W1553* |
probably null |
Het |
| Art2a |
T |
C |
7: 101,203,972 (GRCm39) |
I189V |
probably benign |
Het |
| BC049715 |
A |
G |
6: 136,816,790 (GRCm39) |
E10G |
possibly damaging |
Het |
| Ccdc158 |
A |
G |
5: 92,796,929 (GRCm39) |
L469P |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,502,688 (GRCm39) |
F131S |
probably damaging |
Het |
| Ctsm |
T |
C |
13: 61,687,682 (GRCm39) |
I59V |
possibly damaging |
Het |
| Daam2 |
A |
G |
17: 49,767,682 (GRCm39) |
F970L |
probably damaging |
Het |
| Gm21903 |
A |
T |
17: 39,353,547 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
| H2bc7 |
G |
A |
13: 23,758,355 (GRCm39) |
|
probably benign |
Het |
| Hoxd10 |
T |
A |
2: 74,522,706 (GRCm39) |
V128D |
probably benign |
Het |
| Ighv5-9 |
T |
C |
12: 113,625,567 (GRCm39) |
T59A |
probably benign |
Het |
| Nlrp4c |
G |
A |
7: 6,068,524 (GRCm39) |
V142M |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,330,311 (GRCm39) |
F947L |
probably benign |
Het |
| Or1ak2 |
T |
A |
2: 36,827,221 (GRCm39) |
I30N |
possibly damaging |
Het |
| Or56b1b |
G |
T |
7: 108,164,151 (GRCm39) |
H284N |
probably benign |
Het |
| Piezo2 |
G |
T |
18: 63,157,506 (GRCm39) |
Y223* |
probably null |
Het |
| Rhog |
A |
T |
7: 101,889,345 (GRCm39) |
V36E |
probably damaging |
Het |
| Sbno1 |
G |
A |
5: 124,519,771 (GRCm39) |
T1168I |
probably damaging |
Het |
| Sin3a |
T |
A |
9: 57,004,118 (GRCm39) |
L290* |
probably null |
Het |
| Slfn9 |
A |
T |
11: 82,872,590 (GRCm39) |
S715R |
possibly damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,840 (GRCm39) |
E120G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTTGAGCTCCAACCGTGC -3'
(R):5'- CTCAGCAGACAATGATGGATGG -3'
Sequencing Primer
(F):5'- CTTGGGTCAAGCCATCAATG -3'
(R):5'- CTCAGGAGAAAGACCTTGGGC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation