Incidental Mutation 'R2084:Slco1c1'
ID |
230198 |
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 |
040089-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R2084 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 141505578 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 452
(Y452*)
|
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: Y501*
|
SMART Domains |
Protein: ENSMUSP00000032362 Gene: ENSMUSG00000030235 AA Change: Y501*
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: ENSMUST00000111837
AA Change: Y502*
|
SMART Domains |
Protein: ENSMUSP00000107468 Gene: ENSMUSG00000030235 AA Change: Y502*
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 |
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 null
Transcript: ENSMUST00000203140
AA Change: Y383*
|
SMART Domains |
Protein: ENSMUSP00000145058 Gene: ENSMUSG00000030235 AA Change: Y383*
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 null
Transcript: ENSMUST00000205214
AA Change: Y452*
|
SMART Domains |
Protein: ENSMUSP00000144889 Gene: ENSMUSG00000030235 AA Change: Y452*
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 |
|
Meta Mutation Damage Score |
0.9718 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (53/53) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd36 |
C |
T |
11: 5,612,378 (GRCm39) |
Q1237* |
probably null |
Het |
Aph1c |
T |
G |
9: 66,726,579 (GRCm39) |
R258S |
probably damaging |
Het |
Arfgap3 |
T |
A |
15: 83,218,767 (GRCm39) |
N102I |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,299,978 (GRCm39) |
V106A |
probably damaging |
Het |
BC005537 |
G |
T |
13: 24,996,698 (GRCm39) |
|
probably null |
Het |
Card10 |
G |
A |
15: 78,677,171 (GRCm39) |
T412M |
possibly damaging |
Het |
Cars1 |
T |
C |
7: 143,140,919 (GRCm39) |
I126M |
probably benign |
Het |
Cfap20dc |
T |
C |
14: 8,558,171 (GRCm38) |
D138G |
probably damaging |
Het |
Col11a1 |
C |
T |
3: 113,951,791 (GRCm39) |
R1074C |
probably damaging |
Het |
Cpped1 |
T |
C |
16: 11,646,365 (GRCm39) |
D153G |
probably damaging |
Het |
Cyp2j11 |
T |
A |
4: 96,227,438 (GRCm39) |
I193F |
probably damaging |
Het |
Dnm2 |
T |
C |
9: 21,411,667 (GRCm39) |
|
probably null |
Het |
Efemp1 |
A |
G |
11: 28,865,763 (GRCm39) |
D288G |
probably damaging |
Het |
Espl1 |
T |
C |
15: 102,205,286 (GRCm39) |
|
probably null |
Het |
Fcgbpl1 |
G |
A |
7: 27,856,960 (GRCm39) |
V2103M |
probably damaging |
Het |
Fcrl5 |
T |
C |
3: 87,351,537 (GRCm39) |
F262L |
probably benign |
Het |
Gh |
G |
A |
11: 106,191,958 (GRCm39) |
P84L |
probably damaging |
Het |
Gm10267 |
T |
C |
18: 44,290,397 (GRCm39) |
R37G |
probably benign |
Het |
Hmgxb3 |
C |
T |
18: 61,288,095 (GRCm39) |
|
probably benign |
Het |
Ifit2 |
T |
C |
19: 34,550,750 (GRCm39) |
W97R |
probably damaging |
Het |
Ift81 |
T |
G |
5: 122,705,410 (GRCm39) |
K491Q |
probably benign |
Het |
Ints8 |
A |
G |
4: 11,230,377 (GRCm39) |
V488A |
probably benign |
Het |
Krba1 |
T |
A |
6: 48,391,502 (GRCm39) |
L797Q |
probably damaging |
Het |
Krr1 |
T |
C |
10: 111,812,690 (GRCm39) |
V100A |
probably damaging |
Het |
Nav1 |
C |
T |
1: 135,535,158 (GRCm39) |
|
probably benign |
Het |
Nos1 |
C |
A |
5: 118,081,310 (GRCm39) |
Q1205K |
probably damaging |
Het |
Nup85 |
A |
T |
11: 115,459,517 (GRCm39) |
D125V |
possibly damaging |
Het |
Or5ak23 |
T |
C |
2: 85,244,959 (GRCm39) |
E88G |
probably benign |
Het |
Pclo |
T |
G |
5: 14,732,162 (GRCm39) |
S3555A |
probably benign |
Het |
Pdzrn3 |
T |
C |
6: 101,131,256 (GRCm39) |
I473V |
probably benign |
Het |
Polr1a |
A |
G |
6: 71,927,793 (GRCm39) |
E848G |
possibly damaging |
Het |
Pop1 |
T |
C |
15: 34,508,744 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,425,920 (GRCm39) |
T8S |
probably damaging |
Het |
Prpf3 |
C |
T |
3: 95,756,301 (GRCm39) |
E117K |
probably benign |
Het |
Psmg3 |
C |
T |
5: 139,809,744 (GRCm39) |
V101M |
probably benign |
Het |
Rexo1 |
G |
A |
10: 80,397,100 (GRCm39) |
S52L |
probably benign |
Het |
Ryk |
C |
T |
9: 102,752,971 (GRCm39) |
T210M |
probably damaging |
Het |
Sde2 |
A |
G |
1: 180,690,198 (GRCm39) |
E306G |
probably damaging |
Het |
Sec24c |
A |
G |
14: 20,741,347 (GRCm39) |
Q658R |
probably benign |
Het |
Sgsm1 |
G |
A |
5: 113,433,266 (GRCm39) |
T183I |
probably damaging |
Het |
Skint7 |
T |
A |
4: 111,837,375 (GRCm39) |
V51E |
probably damaging |
Het |
Slc6a5 |
T |
A |
7: 49,598,002 (GRCm39) |
M622K |
probably benign |
Het |
Slco1a5 |
T |
C |
6: 142,180,437 (GRCm39) |
H655R |
probably benign |
Het |
Spn |
T |
C |
7: 126,736,210 (GRCm39) |
E99G |
probably benign |
Het |
Ssc5d |
A |
G |
7: 4,940,011 (GRCm39) |
I789V |
probably benign |
Het |
Taok2 |
G |
A |
7: 126,469,363 (GRCm39) |
T1155I |
probably benign |
Het |
Tet2 |
T |
C |
3: 133,193,528 (GRCm39) |
Q302R |
possibly damaging |
Het |
Trmt1l |
A |
G |
1: 151,316,605 (GRCm39) |
T189A |
probably damaging |
Het |
Tubal3 |
T |
C |
13: 3,978,192 (GRCm39) |
I36T |
possibly damaging |
Het |
Vmn2r71 |
A |
T |
7: 85,267,945 (GRCm39) |
Y133F |
probably benign |
Het |
Vps11 |
G |
T |
9: 44,264,558 (GRCm39) |
H673N |
probably benign |
Het |
Zc3h12a |
C |
T |
4: 125,013,802 (GRCm39) |
S354N |
probably benign |
Het |
Zfp2 |
A |
G |
11: 50,791,789 (GRCm39) |
S85P |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACGTTTAACAGTGGGCTC -3'
(R):5'- CTTATACATAAGAGTAGGGTCAGAACG -3'
Sequencing Primer
(F):5'- ACAGTGGGCTCATTTTTAACAC -3'
(R):5'- GGTCAGAACGAGAGCTTCCAC -3'
|
Posted On |
2014-09-18 |