Incidental Mutation 'R5836:Slco1c1'
ID |
449590 |
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 |
043222-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R5836 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141515040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 596
(Y596C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144889
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
AlphaFold |
Q9ERB5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032362
AA Change: Y645C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: Y645C
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: 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 damaging
Transcript: ENSMUST00000205214
AA Change: Y596C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: Y596C
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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
G |
T |
17: 36,272,918 (GRCm39) |
A243D |
possibly damaging |
Het |
Azin2 |
C |
T |
4: 128,842,670 (GRCm39) |
G128D |
probably damaging |
Het |
Babam1 |
A |
G |
8: 71,855,687 (GRCm39) |
E260G |
probably benign |
Het |
Brwd1 |
A |
T |
16: 95,865,958 (GRCm39) |
S275T |
probably damaging |
Het |
Cd8a |
T |
C |
6: 71,350,775 (GRCm39) |
V80A |
possibly damaging |
Het |
Clec4a3 |
T |
C |
6: 122,929,861 (GRCm39) |
F12S |
possibly damaging |
Het |
Dennd2b |
A |
T |
7: 109,140,552 (GRCm39) |
S225T |
possibly damaging |
Het |
Dnah5 |
A |
C |
15: 28,383,738 (GRCm39) |
N2987H |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,918,763 (GRCm39) |
F78S |
probably damaging |
Het |
Eml3 |
A |
G |
19: 8,918,659 (GRCm39) |
T885A |
possibly damaging |
Het |
Esr1 |
T |
C |
10: 4,662,817 (GRCm39) |
V145A |
probably benign |
Het |
Gm5108 |
A |
G |
5: 68,101,953 (GRCm39) |
|
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,229,882 (GRCm39) |
S758G |
probably benign |
Het |
Heatr1 |
T |
A |
13: 12,423,617 (GRCm39) |
L538Q |
probably damaging |
Het |
Ikzf2 |
A |
G |
1: 69,578,546 (GRCm39) |
I176T |
probably damaging |
Het |
Lrp3 |
A |
G |
7: 34,902,747 (GRCm39) |
V533A |
probably damaging |
Het |
Nkx2-5 |
A |
T |
17: 27,058,063 (GRCm39) |
V297E |
possibly damaging |
Het |
Or13a19 |
G |
A |
7: 139,902,827 (GRCm39) |
V72I |
probably benign |
Het |
Or2y16 |
T |
C |
11: 49,335,353 (GRCm39) |
L225P |
probably damaging |
Het |
Or8g23 |
T |
C |
9: 38,971,918 (GRCm39) |
T15A |
probably benign |
Het |
Pclo |
T |
A |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
Pdgfra |
T |
C |
5: 75,324,435 (GRCm39) |
W97R |
possibly damaging |
Het |
Plekha5 |
T |
C |
6: 140,372,250 (GRCm39) |
Y67H |
probably damaging |
Het |
Plin5 |
A |
T |
17: 56,422,549 (GRCm39) |
|
probably null |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Prickle1 |
T |
A |
15: 93,400,898 (GRCm39) |
K529* |
probably null |
Het |
Ptbp2 |
G |
A |
3: 119,519,746 (GRCm39) |
T107I |
probably damaging |
Het |
Ptpn12 |
C |
T |
5: 21,214,544 (GRCm39) |
W197* |
probably null |
Het |
Rhobtb1 |
T |
C |
10: 69,105,819 (GRCm39) |
V128A |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,618,618 (GRCm39) |
T3866A |
probably damaging |
Het |
Serpina3m |
T |
C |
12: 104,355,509 (GRCm39) |
Y59H |
probably damaging |
Het |
Slc12a6 |
T |
C |
2: 112,172,343 (GRCm39) |
V414A |
possibly damaging |
Het |
Slc34a1 |
T |
C |
13: 55,561,278 (GRCm39) |
M581T |
probably benign |
Het |
Stoml1 |
T |
C |
9: 58,168,123 (GRCm39) |
L278P |
probably benign |
Het |
Tecpr2 |
C |
T |
12: 110,897,945 (GRCm39) |
A399V |
possibly damaging |
Het |
Tmem229a |
T |
C |
6: 24,955,016 (GRCm39) |
E246G |
probably damaging |
Het |
Vmn1r224 |
A |
T |
17: 20,639,953 (GRCm39) |
I177L |
probably benign |
Het |
Zswim5 |
C |
T |
4: 116,842,000 (GRCm39) |
T860I |
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 |
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 |
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'- CATTTGCAGTAACCAGGAATGAC -3'
(R):5'- CAGTACTTGGGCTGCAATCC -3'
Sequencing Primer
(F):5'- AACTAAGAAGTTGCCTCTGCTGG -3'
(R):5'- TTGGGCTGCAATCCACGATC -3'
|
Posted On |
2016-12-20 |