Incidental Mutation 'IGL01543:Slco6c1'
| ID |
90244 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco6c1
|
| Ensembl Gene |
ENSMUSG00000026331 |
| Gene Name |
solute carrier organic anion transporter family, member 6c1 |
| Synonyms |
4933404A18Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01543
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 97053553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 116
(M116T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027569
AA Change: M116T
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
AA Change: M116T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
|
Pfam:OATP
|
95 |
654 |
3e-101 |
PFAM |
|
Pfam:MFS_1
|
207 |
474 |
6.5e-14 |
PFAM |
|
Pfam:Kazal_2
|
497 |
538 |
7.4e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189547
AA Change: M116T
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
AA Change: M116T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
55 |
N/A |
INTRINSIC |
|
Pfam:OATP
|
93 |
197 |
7.4e-12 |
PFAM |
|
Pfam:MFS_1
|
99 |
457 |
2.2e-15 |
PFAM |
|
Pfam:OATP
|
192 |
638 |
2.5e-64 |
PFAM |
|
Pfam:Kazal_2
|
480 |
521 |
2.1e-8 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
T |
C |
3: 59,932,097 (GRCm39) |
I204T |
probably benign |
Het |
| Abhd16a |
T |
C |
17: 35,310,013 (GRCm39) |
S69P |
probably damaging |
Het |
| Ampd1 |
C |
T |
3: 103,003,029 (GRCm39) |
T582I |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,123,889 (GRCm39) |
R377C |
probably damaging |
Het |
| Arid1a |
A |
T |
4: 133,409,033 (GRCm39) |
F1825I |
unknown |
Het |
| Asxl1 |
G |
A |
2: 153,243,404 (GRCm39) |
G1318D |
probably benign |
Het |
| B4galnt3 |
G |
A |
6: 120,186,273 (GRCm39) |
H807Y |
probably benign |
Het |
| Bpifb5 |
G |
T |
2: 154,075,169 (GRCm39) |
V366F |
possibly damaging |
Het |
| Caskin1 |
T |
C |
17: 24,723,522 (GRCm39) |
V770A |
probably benign |
Het |
| Ccdc152 |
G |
A |
15: 3,327,606 (GRCm39) |
T57I |
possibly damaging |
Het |
| Ccs |
T |
C |
19: 4,884,269 (GRCm39) |
E61G |
possibly damaging |
Het |
| Chsy3 |
G |
A |
18: 59,543,472 (GRCm39) |
W870* |
probably null |
Het |
| Col8a1 |
G |
A |
16: 57,448,097 (GRCm39) |
P471L |
unknown |
Het |
| Cyp2j6 |
A |
C |
4: 96,414,161 (GRCm39) |
V368G |
possibly damaging |
Het |
| Dnajc3 |
T |
C |
14: 119,198,274 (GRCm39) |
|
probably null |
Het |
| Dpep3 |
A |
T |
8: 106,702,814 (GRCm39) |
M316K |
probably damaging |
Het |
| Galntl5 |
A |
G |
5: 25,400,349 (GRCm39) |
E126G |
probably damaging |
Het |
| Gli1 |
T |
C |
10: 127,168,347 (GRCm39) |
N502S |
probably damaging |
Het |
| Hus1 |
A |
G |
11: 8,950,082 (GRCm39) |
L213P |
probably benign |
Het |
| Hypk |
A |
G |
2: 121,287,776 (GRCm39) |
|
probably null |
Het |
| Igkv4-59 |
T |
A |
6: 69,415,345 (GRCm39) |
Y70F |
probably damaging |
Het |
| Impdh1 |
A |
C |
6: 29,203,377 (GRCm39) |
V14G |
probably damaging |
Het |
| Kif26b |
A |
G |
1: 178,506,526 (GRCm39) |
M201V |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,295,250 (GRCm39) |
I5323T |
probably damaging |
Het |
| Mmp16 |
C |
T |
4: 18,051,743 (GRCm39) |
A244V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,932,943 (GRCm39) |
D5619G |
probably benign |
Het |
| Or2ag20 |
T |
C |
7: 106,465,125 (GRCm39) |
S313P |
probably benign |
Het |
| Pcdh7 |
T |
C |
5: 57,878,107 (GRCm39) |
V554A |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,203,101 (GRCm39) |
E1513G |
probably damaging |
Het |
| Rab6b |
A |
G |
9: 103,039,837 (GRCm39) |
D75G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,790,501 (GRCm39) |
Y1435C |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,413 (GRCm39) |
N81S |
probably damaging |
Het |
| Six5 |
G |
A |
7: 18,830,272 (GRCm39) |
A300T |
possibly damaging |
Het |
| Skap2 |
T |
A |
6: 51,989,375 (GRCm39) |
N3Y |
possibly damaging |
Het |
| Skint6 |
A |
T |
4: 112,757,160 (GRCm39) |
S734T |
probably benign |
Het |
| Slc15a4 |
A |
C |
5: 127,680,830 (GRCm39) |
H396Q |
probably benign |
Het |
| Slfn9 |
T |
C |
11: 82,878,775 (GRCm39) |
D118G |
probably benign |
Het |
| Trim3 |
T |
C |
7: 105,262,520 (GRCm39) |
D546G |
probably damaging |
Het |
| Trpa1 |
A |
G |
1: 14,970,300 (GRCm39) |
L362P |
probably damaging |
Het |
| Vasn |
A |
G |
16: 4,467,756 (GRCm39) |
T568A |
possibly damaging |
Het |
| Vwa5b2 |
A |
G |
16: 20,414,466 (GRCm39) |
M281V |
probably benign |
Het |
| Wwp2 |
A |
G |
8: 108,210,000 (GRCm39) |
E126G |
probably damaging |
Het |
| Zfp398 |
G |
A |
6: 47,842,997 (GRCm39) |
G350S |
probably damaging |
Het |
|
| Other mutations in Slco6c1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Slco6c1
|
APN |
1 |
97,015,674 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00571:Slco6c1
|
APN |
1 |
97,015,676 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01483:Slco6c1
|
APN |
1 |
97,055,832 (GRCm39) |
missense |
probably benign |
|
|
IGL01860:Slco6c1
|
APN |
1 |
97,003,548 (GRCm39) |
splice site |
probably benign |
|
|
IGL03106:Slco6c1
|
APN |
1 |
96,993,748 (GRCm39) |
splice site |
probably benign |
|
|
R0087:Slco6c1
|
UTSW |
1 |
97,046,303 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0543:Slco6c1
|
UTSW |
1 |
97,055,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0674:Slco6c1
|
UTSW |
1 |
97,032,498 (GRCm39) |
splice site |
probably benign |
|
|
R0826:Slco6c1
|
UTSW |
1 |
97,055,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0928:Slco6c1
|
UTSW |
1 |
97,032,573 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0969:Slco6c1
|
UTSW |
1 |
97,047,685 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1366:Slco6c1
|
UTSW |
1 |
97,055,928 (GRCm39) |
start gained |
probably null |
|
|
R1559:Slco6c1
|
UTSW |
1 |
97,026,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Slco6c1
|
UTSW |
1 |
96,990,163 (GRCm39) |
missense |
probably benign |
0.36 |
|
R1901:Slco6c1
|
UTSW |
1 |
97,000,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2005:Slco6c1
|
UTSW |
1 |
97,009,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2101:Slco6c1
|
UTSW |
1 |
97,000,595 (GRCm39) |
nonsense |
probably null |
|
|
R2102:Slco6c1
|
UTSW |
1 |
97,055,656 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2120:Slco6c1
|
UTSW |
1 |
96,993,808 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R2135:Slco6c1
|
UTSW |
1 |
97,032,542 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2295:Slco6c1
|
UTSW |
1 |
97,053,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2437:Slco6c1
|
UTSW |
1 |
96,990,201 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4004:Slco6c1
|
UTSW |
1 |
97,003,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4133:Slco6c1
|
UTSW |
1 |
97,009,218 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4643:Slco6c1
|
UTSW |
1 |
96,990,149 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4786:Slco6c1
|
UTSW |
1 |
97,015,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4942:Slco6c1
|
UTSW |
1 |
97,009,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5485:Slco6c1
|
UTSW |
1 |
97,053,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5573:Slco6c1
|
UTSW |
1 |
97,055,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5810:Slco6c1
|
UTSW |
1 |
97,003,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Slco6c1
|
UTSW |
1 |
97,009,041 (GRCm39) |
splice site |
probably null |
|
|
R6033:Slco6c1
|
UTSW |
1 |
97,009,041 (GRCm39) |
splice site |
probably null |
|
|
R6191:Slco6c1
|
UTSW |
1 |
96,993,808 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6197:Slco6c1
|
UTSW |
1 |
97,000,518 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6286:Slco6c1
|
UTSW |
1 |
97,053,445 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6404:Slco6c1
|
UTSW |
1 |
97,046,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6430:Slco6c1
|
UTSW |
1 |
97,003,699 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6492:Slco6c1
|
UTSW |
1 |
97,053,538 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6649:Slco6c1
|
UTSW |
1 |
97,053,436 (GRCm39) |
missense |
probably benign |
0.44 |
|
R6940:Slco6c1
|
UTSW |
1 |
97,000,626 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7138:Slco6c1
|
UTSW |
1 |
97,047,706 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7213:Slco6c1
|
UTSW |
1 |
97,055,671 (GRCm39) |
missense |
probably benign |
|
|
R7234:Slco6c1
|
UTSW |
1 |
97,053,466 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7320:Slco6c1
|
UTSW |
1 |
97,055,887 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7375:Slco6c1
|
UTSW |
1 |
97,009,146 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R7383:Slco6c1
|
UTSW |
1 |
97,003,608 (GRCm39) |
nonsense |
probably null |
|
|
R7422:Slco6c1
|
UTSW |
1 |
97,009,207 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7491:Slco6c1
|
UTSW |
1 |
97,055,579 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7561:Slco6c1
|
UTSW |
1 |
97,000,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7890:Slco6c1
|
UTSW |
1 |
96,990,192 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8115:Slco6c1
|
UTSW |
1 |
97,000,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8409:Slco6c1
|
UTSW |
1 |
97,003,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8422:Slco6c1
|
UTSW |
1 |
97,053,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8824:Slco6c1
|
UTSW |
1 |
97,055,884 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8905:Slco6c1
|
UTSW |
1 |
97,053,391 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9183:Slco6c1
|
UTSW |
1 |
96,996,775 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9300:Slco6c1
|
UTSW |
1 |
96,993,809 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9359:Slco6c1
|
UTSW |
1 |
96,990,248 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9374:Slco6c1
|
UTSW |
1 |
97,055,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9403:Slco6c1
|
UTSW |
1 |
96,990,248 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9499:Slco6c1
|
UTSW |
1 |
97,055,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9551:Slco6c1
|
UTSW |
1 |
97,055,827 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9674:Slco6c1
|
UTSW |
1 |
97,047,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation