Incidental Mutation 'R6865:Slco1c1'
ID |
535864 |
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 |
045027-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6865 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 141485778 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 136
(Y136F)
|
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: Y136F
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: Y136F
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: ENSMUST00000135562
AA Change: Y136F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138093 Gene: ENSMUSG00000030235 AA Change: Y136F
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 damaging
Transcript: ENSMUST00000203140
AA Change: Y18F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000145058 Gene: ENSMUSG00000030235 AA Change: Y18F
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 |
silent
Transcript: ENSMUST00000204998
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205214
AA Change: Y136F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: Y136F
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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
A |
13: 4,320,212 (GRCm39) |
M293L |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,621,683 (GRCm39) |
D723G |
probably benign |
Het |
Ankrd26 |
T |
C |
6: 118,500,442 (GRCm39) |
R1010G |
possibly damaging |
Het |
Apob |
G |
A |
12: 8,058,847 (GRCm39) |
R2410H |
probably benign |
Het |
Auh |
T |
C |
13: 52,992,165 (GRCm39) |
D275G |
probably damaging |
Het |
Card10 |
G |
T |
15: 78,686,822 (GRCm39) |
D47E |
possibly damaging |
Het |
Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
Cfap206 |
T |
C |
4: 34,714,448 (GRCm39) |
Y416C |
possibly damaging |
Het |
Chuk |
A |
T |
19: 44,075,354 (GRCm39) |
Y500* |
probably null |
Het |
Cop1 |
T |
A |
1: 159,136,524 (GRCm39) |
D536E |
probably damaging |
Het |
Crh |
G |
C |
3: 19,748,304 (GRCm39) |
P113A |
possibly damaging |
Het |
Ddx54 |
T |
G |
5: 120,759,892 (GRCm39) |
|
probably null |
Het |
Efcab7 |
T |
C |
4: 99,769,793 (GRCm39) |
S127P |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
Fga |
T |
A |
3: 82,938,848 (GRCm39) |
C408S |
probably damaging |
Het |
Flot2 |
T |
C |
11: 77,940,318 (GRCm39) |
S22P |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,991,672 (GRCm39) |
T675S |
unknown |
Het |
Foxc1 |
A |
G |
13: 31,992,836 (GRCm39) |
D549G |
unknown |
Het |
Gldc |
T |
C |
19: 30,111,162 (GRCm39) |
N538S |
possibly damaging |
Het |
Grk4 |
T |
G |
5: 34,888,894 (GRCm39) |
V346G |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,747,127 (GRCm39) |
R111G |
probably benign |
Het |
Heatr6 |
C |
T |
11: 83,659,966 (GRCm39) |
H504Y |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,670,013 (GRCm39) |
|
probably null |
Het |
Msrb1 |
T |
C |
17: 24,955,685 (GRCm39) |
S2P |
possibly damaging |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myo3a |
A |
G |
2: 22,464,313 (GRCm39) |
I185V |
probably benign |
Het |
Myo5c |
T |
C |
9: 75,176,878 (GRCm39) |
S608P |
probably benign |
Het |
Nek6 |
A |
G |
2: 38,459,678 (GRCm39) |
I174V |
probably benign |
Het |
Nmt2 |
T |
C |
2: 3,315,766 (GRCm39) |
V252A |
probably damaging |
Het |
Nudt9 |
G |
T |
5: 104,207,545 (GRCm39) |
R179M |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,383,690 (GRCm39) |
V29A |
possibly damaging |
Het |
Olah |
T |
C |
2: 3,343,964 (GRCm39) |
D216G |
possibly damaging |
Het |
Or13c7b |
T |
C |
4: 43,821,346 (GRCm39) |
N5S |
probably benign |
Het |
Or52n2 |
T |
C |
7: 104,542,719 (GRCm39) |
I39V |
probably benign |
Het |
Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,795,461 (GRCm39) |
V2318A |
probably benign |
Het |
Pknox1 |
T |
A |
17: 31,807,534 (GRCm39) |
M51K |
probably damaging |
Het |
Ppp1r12a |
C |
T |
10: 108,098,242 (GRCm39) |
R321* |
probably null |
Het |
Pxdn |
A |
G |
12: 30,064,582 (GRCm39) |
|
probably null |
Het |
Rab44 |
A |
T |
17: 29,358,201 (GRCm39) |
I130F |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,962,091 (GRCm39) |
I179T |
probably damaging |
Het |
Slc22a28 |
A |
T |
19: 8,041,856 (GRCm39) |
C450* |
probably null |
Het |
Synj2 |
C |
T |
17: 6,067,844 (GRCm39) |
Q106* |
probably null |
Het |
Uckl1 |
T |
C |
2: 181,216,286 (GRCm39) |
N138S |
probably damaging |
Het |
Usp19 |
G |
T |
9: 108,376,018 (GRCm39) |
E203* |
probably null |
Het |
Vdr |
A |
G |
15: 97,755,386 (GRCm39) |
I379T |
probably damaging |
Het |
Zfp503 |
C |
A |
14: 22,036,101 (GRCm39) |
G272C |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
possibly damaging |
Het |
Zzz3 |
T |
A |
3: 152,133,690 (GRCm39) |
D249E |
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 |
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 |
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'- ACTGCCACCTGTGAAGCTAAC -3'
(R):5'- GTAGTTTGGGGCACTTAAATACTTC -3'
Sequencing Primer
(F):5'- CTGCTATTCAGTGCTGGTTTG -3'
(R):5'- TTTCCCCAGGATTGAGCT -3'
|
Posted On |
2018-10-18 |