Incidental Mutation 'IGL03102:Slco1c1'
| ID |
418753 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.108)
|
| Stock # |
IGL03102
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141470094-141515903 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141490553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 211
(N211K)
|
| 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: N260K
PolyPhen 2
Score 0.209 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000032362
Gene: ENSMUSG00000030235
AA Change: N260K
| 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
AA Change: N260K
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000138093
Gene: ENSMUSG00000030235
AA Change: N260K
| 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
AA Change: N142K
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000145058
Gene: ENSMUSG00000030235
AA Change: N142K
| 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 |
noncoding transcript
Transcript: ENSMUST00000203755
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204998
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205214
AA Change: N211K
PolyPhen 2
Score 0.634 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000144889
Gene: ENSMUSG00000030235
AA Change: N211K
| 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 |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
C |
7: 80,744,804 (GRCm39) |
|
probably null |
Het |
| Alyref |
G |
A |
11: 120,488,591 (GRCm39) |
P79L |
possibly damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,203,231 (GRCm39) |
D74G |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,058,718 (GRCm39) |
D909V |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,718,857 (GRCm39) |
D586E |
probably damaging |
Het |
| Chd3 |
G |
T |
11: 69,252,022 (GRCm39) |
Y79* |
probably null |
Het |
| Cnot3 |
C |
A |
7: 3,659,155 (GRCm39) |
S467* |
probably null |
Het |
| Col18a1 |
A |
T |
10: 76,903,457 (GRCm39) |
|
probably benign |
Het |
| Col19a1 |
C |
A |
1: 24,367,134 (GRCm39) |
G483C |
probably damaging |
Het |
| Col5a3 |
A |
C |
9: 20,715,931 (GRCm39) |
|
probably null |
Het |
| Dctn5 |
A |
T |
7: 121,732,382 (GRCm39) |
N9I |
probably benign |
Het |
| Emc10 |
T |
A |
7: 44,141,413 (GRCm39) |
N225I |
probably damaging |
Het |
| Fam219b |
A |
G |
9: 57,447,981 (GRCm39) |
Y158C |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,874,394 (GRCm39) |
V2273A |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,339,661 (GRCm39) |
H651Q |
possibly damaging |
Het |
| Gm4076 |
T |
A |
13: 85,275,438 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr35 |
A |
T |
1: 92,910,299 (GRCm39) |
T4S |
probably benign |
Het |
| Ifnab |
T |
G |
4: 88,609,062 (GRCm39) |
T135P |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,926,608 (GRCm39) |
I979V |
probably benign |
Het |
| Kank1 |
G |
T |
19: 25,403,282 (GRCm39) |
M1097I |
probably damaging |
Het |
| Kcnq3 |
A |
G |
15: 65,900,637 (GRCm39) |
V206A |
probably damaging |
Het |
| Kel |
T |
C |
6: 41,679,917 (GRCm39) |
K91R |
probably benign |
Het |
| Kirrel1 |
G |
T |
3: 86,990,807 (GRCm39) |
R672S |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,753,424 (GRCm39) |
M143T |
probably benign |
Het |
| Kpna1 |
A |
G |
16: 35,833,289 (GRCm39) |
I122V |
probably damaging |
Het |
| Lrpap1 |
A |
G |
5: 35,250,694 (GRCm39) |
S353P |
probably damaging |
Het |
| Mtfr1l |
T |
A |
4: 134,259,543 (GRCm39) |
Q11L |
probably damaging |
Het |
| Muc5b |
G |
A |
7: 141,416,806 (GRCm39) |
V3251M |
probably benign |
Het |
| Mup8 |
C |
T |
4: 60,219,746 (GRCm39) |
D174N |
probably benign |
Het |
| Nup155 |
A |
T |
15: 8,176,768 (GRCm39) |
E1015D |
probably benign |
Het |
| Or10ak14 |
C |
A |
4: 118,611,131 (GRCm39) |
L201F |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,735 (GRCm39) |
Y73C |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,801,668 (GRCm39) |
F188L |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 11,058,719 (GRCm39) |
F13L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,723,722 (GRCm39) |
S676T |
possibly damaging |
Het |
| Pdia6 |
T |
A |
12: 17,331,040 (GRCm39) |
|
probably null |
Het |
| Pfkm |
A |
T |
15: 98,024,266 (GRCm39) |
I425F |
possibly damaging |
Het |
| Pikfyve |
C |
T |
1: 65,291,626 (GRCm39) |
R1282* |
probably null |
Het |
| Pole |
C |
T |
5: 110,444,939 (GRCm39) |
L432F |
probably damaging |
Het |
| Pramel25 |
T |
C |
4: 143,520,116 (GRCm39) |
V120A |
possibly damaging |
Het |
| Prr5 |
G |
T |
15: 84,650,508 (GRCm39) |
|
probably benign |
Het |
| Prxl2b |
T |
C |
4: 154,981,058 (GRCm39) |
|
probably benign |
Het |
| Psat1 |
A |
G |
19: 15,883,487 (GRCm39) |
Y343H |
probably damaging |
Het |
| Ptprj |
C |
T |
2: 90,309,312 (GRCm39) |
R51K |
probably benign |
Het |
| Qars1 |
A |
G |
9: 108,386,118 (GRCm39) |
D103G |
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,322,989 (GRCm39) |
I768F |
possibly damaging |
Het |
| Robo4 |
T |
A |
9: 37,315,481 (GRCm39) |
V275E |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,650,468 (GRCm39) |
|
probably benign |
Het |
| Sez6l |
T |
C |
5: 112,623,269 (GRCm39) |
H94R |
probably benign |
Het |
| Strbp |
T |
C |
2: 37,476,515 (GRCm39) |
|
probably benign |
Het |
| Tceanc2 |
T |
A |
4: 107,004,878 (GRCm39) |
H90L |
probably damaging |
Het |
| Tdrkh |
A |
T |
3: 94,331,844 (GRCm39) |
T90S |
possibly damaging |
Het |
| Tiam2 |
A |
G |
17: 3,559,823 (GRCm39) |
D1288G |
probably damaging |
Het |
| Tln1 |
T |
C |
4: 43,532,861 (GRCm39) |
D2447G |
possibly damaging |
Het |
| Tmem63c |
G |
A |
12: 87,112,323 (GRCm39) |
V141M |
probably benign |
Het |
| Tpp2 |
T |
A |
1: 43,995,649 (GRCm39) |
V268E |
probably damaging |
Het |
| Tprkb |
T |
A |
6: 85,901,400 (GRCm39) |
C13S |
probably benign |
Het |
| Traf3ip3 |
T |
C |
1: 192,877,385 (GRCm39) |
T184A |
probably damaging |
Het |
| Trpc6 |
T |
A |
9: 8,649,302 (GRCm39) |
M504K |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,597,567 (GRCm39) |
S18036* |
probably null |
Het |
| Wdfy4 |
A |
T |
14: 32,688,392 (GRCm39) |
C2914S |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,032 (GRCm39) |
|
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,785,134 (GRCm39) |
H471R |
probably damaging |
Het |
| Zfp747l1 |
T |
C |
7: 126,983,951 (GRCm39) |
T384A |
probably benign |
Het |
| Zfyve16 |
C |
T |
13: 92,648,325 (GRCm39) |
E910K |
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 |
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation