Incidental Mutation 'R9560:Slco1c1'
ID |
720959 |
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 # |
R9560 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 141515076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 657
(V657A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032362
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032362]
[ENSMUST00000135562]
[ENSMUST00000203140]
[ENSMUST00000204998]
[ENSMUST00000205214]
|
AlphaFold |
Q9ERB5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032362
AA Change: V657A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: V657A
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 benign
Transcript: ENSMUST00000205214
AA Change: V608A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: V608A
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: 99.6%
- 20x: 98.9%
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9930111J21Rik1 |
T |
C |
11: 48,839,082 (GRCm39) |
R502G |
probably damaging |
Het |
A930004D18Rik |
G |
A |
2: 18,032,218 (GRCm39) |
|
probably benign |
Het |
Abhd16b |
T |
A |
2: 181,135,103 (GRCm39) |
C2S |
probably damaging |
Het |
Adam2 |
T |
C |
14: 66,275,102 (GRCm39) |
M544V |
probably benign |
Het |
Agbl3 |
T |
A |
6: 34,823,843 (GRCm39) |
V841E |
possibly damaging |
Het |
Aldh1l1 |
A |
G |
6: 90,536,825 (GRCm39) |
D127G |
probably damaging |
Het |
Ap1b1 |
G |
A |
11: 4,976,363 (GRCm39) |
E464K |
probably benign |
Het |
Cdh19 |
T |
A |
1: 110,821,004 (GRCm39) |
E578V |
possibly damaging |
Het |
Chat |
G |
A |
14: 32,170,942 (GRCm39) |
Q186* |
probably null |
Het |
Cited4 |
A |
G |
4: 120,524,165 (GRCm39) |
T56A |
probably benign |
Het |
Cpt1a |
T |
C |
19: 3,402,531 (GRCm39) |
L63P |
possibly damaging |
Het |
Havcr2 |
C |
A |
11: 46,347,164 (GRCm39) |
A47E |
probably benign |
Het |
Hdgfl1 |
C |
T |
13: 26,953,239 (GRCm39) |
G278E |
probably damaging |
Het |
Klf5 |
A |
T |
14: 99,539,034 (GRCm39) |
Q149L |
probably benign |
Het |
Klk10 |
A |
G |
7: 43,433,746 (GRCm39) |
Y186C |
probably damaging |
Het |
Krt79 |
C |
T |
15: 101,846,277 (GRCm39) |
E224K |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,725,682 (GRCm39) |
D10G |
probably damaging |
Het |
Lrrc37a |
C |
T |
11: 103,347,420 (GRCm39) |
V3092I |
unknown |
Het |
Minar1 |
G |
T |
9: 89,484,531 (GRCm39) |
Q289K |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,368,544 (GRCm39) |
T2630A |
probably damaging |
Het |
Ncor1 |
T |
C |
11: 62,263,948 (GRCm39) |
T485A |
possibly damaging |
Het |
Olfr908 |
G |
A |
9: 38,427,385 (GRCm39) |
S19N |
probably benign |
Het |
Or10h1b |
C |
T |
17: 33,395,868 (GRCm39) |
T164M |
probably damaging |
Het |
Or10h5 |
G |
A |
17: 33,434,986 (GRCm39) |
H111Y |
probably damaging |
Het |
Or4c104 |
A |
C |
2: 88,586,290 (GRCm39) |
I243S |
possibly damaging |
Het |
Patj |
G |
A |
4: 98,570,289 (GRCm39) |
E1705K |
probably benign |
Het |
Pcdh17 |
T |
A |
14: 84,770,898 (GRCm39) |
D1125E |
probably benign |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Pnliprp2 |
T |
C |
19: 58,762,523 (GRCm39) |
V376A |
possibly damaging |
Het |
Pramel42 |
A |
T |
5: 94,685,640 (GRCm39) |
R433S |
possibly damaging |
Het |
Scn1a |
A |
T |
2: 66,158,131 (GRCm39) |
L414Q |
probably damaging |
Het |
Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
Slc22a23 |
A |
G |
13: 34,381,851 (GRCm39) |
V411A |
possibly damaging |
Het |
Slco3a1 |
A |
T |
7: 74,153,931 (GRCm39) |
Y214N |
probably damaging |
Het |
Sned1 |
A |
G |
1: 93,202,110 (GRCm39) |
T633A |
probably damaging |
Het |
Tmem175 |
T |
C |
5: 108,789,693 (GRCm39) |
F96S |
probably damaging |
Het |
Tmf1 |
C |
T |
6: 97,147,293 (GRCm39) |
E558K |
possibly damaging |
Het |
Tsbp1 |
A |
T |
17: 34,663,016 (GRCm39) |
Q103H |
probably damaging |
Het |
Ubac2 |
G |
A |
14: 122,145,636 (GRCm39) |
G98D |
possibly damaging |
Het |
Unc50 |
T |
A |
1: 37,476,248 (GRCm39) |
V136D |
possibly damaging |
Het |
Vmn1r49 |
T |
A |
6: 90,049,382 (GRCm39) |
M207L |
probably benign |
Het |
Zfp853 |
T |
C |
5: 143,275,080 (GRCm39) |
E195G |
unknown |
Het |
Zfyve9 |
A |
T |
4: 108,575,334 (GRCm39) |
N582K |
possibly 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 |
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 |
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'- CCAGGCCATTAAGTCTGTGTC -3'
(R):5'- TGCACATTGAAGCCCTTTTG -3'
Sequencing Primer
(F):5'- AAGTCTGTGTCTCTCAGCAATCAAC -3'
(R):5'- GCACATTGAAGCCCTTTTGATTATGC -3'
|
Posted On |
2022-08-09 |