Incidental Mutation 'IGL03106:Slco6c1'
| ID |
418996 |
| 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 # |
IGL03106
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
96986763-97056026 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 96993748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027569]
[ENSMUST00000189547]
|
| AlphaFold |
Q8C0X7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027569
|
| SMART Domains |
Protein: ENSMUSP00000027569
Gene: ENSMUSG00000026331
| 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 |
probably benign
Transcript: ENSMUST00000189547
|
| SMART Domains |
Protein: ENSMUSP00000140791
Gene: ENSMUSG00000026331
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
G |
T |
8: 25,205,135 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,621,018 (GRCm39) |
N3911S |
probably benign |
Het |
| Alox12b |
C |
T |
11: 69,059,702 (GRCm39) |
Q585* |
probably null |
Het |
| Amtn |
A |
G |
5: 88,525,944 (GRCm39) |
Q36R |
probably benign |
Het |
| Arg2 |
G |
A |
12: 79,196,665 (GRCm39) |
G129S |
probably damaging |
Het |
| Arhgef28 |
A |
C |
13: 98,094,301 (GRCm39) |
Y948D |
probably damaging |
Het |
| Atp10b |
T |
C |
11: 43,138,304 (GRCm39) |
V1195A |
probably benign |
Het |
| Bet1l |
G |
T |
7: 140,434,523 (GRCm39) |
T42K |
probably benign |
Het |
| Cabin1 |
G |
A |
10: 75,569,462 (GRCm39) |
T875I |
probably benign |
Het |
| Ccdc17 |
A |
G |
4: 116,454,033 (GRCm39) |
|
probably null |
Het |
| Crebrf |
A |
G |
17: 26,990,293 (GRCm39) |
E612G |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,632,119 (GRCm39) |
M83K |
probably benign |
Het |
| Dgkz |
A |
G |
2: 91,771,204 (GRCm39) |
S414P |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,546,551 (GRCm39) |
H411N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 118,988,783 (GRCm39) |
T749S |
probably benign |
Het |
| Dsc1 |
C |
T |
18: 20,219,701 (GRCm39) |
|
probably null |
Het |
| Echdc1 |
A |
T |
10: 29,198,276 (GRCm39) |
M74L |
probably damaging |
Het |
| Edn1 |
C |
A |
13: 42,458,499 (GRCm39) |
T104K |
possibly damaging |
Het |
| Fat2 |
T |
A |
11: 55,202,727 (GRCm39) |
T116S |
probably benign |
Het |
| Fcrl5 |
A |
T |
3: 87,343,190 (GRCm39) |
|
probably null |
Het |
| Fpgt |
C |
T |
3: 154,792,759 (GRCm39) |
G423R |
probably damaging |
Het |
| Gprc5b |
A |
T |
7: 118,583,416 (GRCm39) |
V151E |
probably damaging |
Het |
| Grm5 |
A |
G |
7: 87,685,278 (GRCm39) |
Y465C |
probably damaging |
Het |
| Idh3b |
T |
A |
2: 130,126,321 (GRCm39) |
N6I |
probably benign |
Het |
| Ighmbp2 |
T |
C |
19: 3,323,022 (GRCm39) |
K308R |
possibly damaging |
Het |
| Lrch1 |
A |
T |
14: 75,073,202 (GRCm39) |
S146T |
possibly damaging |
Het |
| Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
| Mterf3 |
T |
C |
13: 67,078,221 (GRCm39) |
K16R |
probably damaging |
Het |
| Ncapg |
T |
A |
5: 45,853,010 (GRCm39) |
H825Q |
probably damaging |
Het |
| Or2t1 |
G |
A |
14: 14,328,851 (GRCm38) |
V247I |
probably damaging |
Het |
| Or2y1f |
T |
A |
11: 49,184,988 (GRCm39) |
I280N |
probably damaging |
Het |
| Or4d5 |
A |
G |
9: 40,012,030 (GRCm39) |
V252A |
probably damaging |
Het |
| Or5b95 |
G |
A |
19: 12,658,287 (GRCm39) |
V272M |
possibly damaging |
Het |
| Or5t15 |
A |
C |
2: 86,681,958 (GRCm39) |
L28R |
possibly damaging |
Het |
| Or5w15 |
A |
T |
2: 87,568,462 (GRCm39) |
S69T |
probably benign |
Het |
| Pald1 |
A |
T |
10: 61,182,884 (GRCm39) |
M355K |
probably benign |
Het |
| Phc1 |
A |
G |
6: 122,300,428 (GRCm39) |
|
probably benign |
Het |
| Phkb |
T |
A |
8: 86,745,095 (GRCm39) |
|
probably benign |
Het |
| Pkn3 |
G |
T |
2: 29,975,257 (GRCm39) |
R506L |
probably damaging |
Het |
| Plod2 |
T |
C |
9: 92,455,620 (GRCm39) |
Y100H |
probably damaging |
Het |
| Prl7b1 |
G |
T |
13: 27,790,918 (GRCm39) |
Q56K |
probably benign |
Het |
| Rhot1 |
T |
A |
11: 80,133,407 (GRCm39) |
C229* |
probably null |
Het |
| Sema3a |
G |
A |
5: 13,649,456 (GRCm39) |
R735Q |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,702,557 (GRCm39) |
*460W |
probably null |
Het |
| Slu7 |
T |
A |
11: 43,333,457 (GRCm39) |
V359D |
possibly damaging |
Het |
| Suco |
T |
C |
1: 161,662,049 (GRCm39) |
Y794C |
possibly damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,769 (GRCm39) |
N70S |
probably benign |
Het |
| Taar2 |
A |
T |
10: 23,817,195 (GRCm39) |
D245V |
probably damaging |
Het |
| Taf1d |
A |
G |
9: 15,221,237 (GRCm39) |
H181R |
possibly damaging |
Het |
| Tmem33 |
T |
C |
5: 67,421,139 (GRCm39) |
S38P |
probably damaging |
Het |
| Traf3ip1 |
T |
C |
1: 91,450,609 (GRCm39) |
S519P |
probably benign |
Het |
| Ttc12 |
T |
C |
9: 49,369,362 (GRCm39) |
K253E |
possibly 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 |
|
|
IGL01543:Slco6c1
|
APN |
1 |
97,053,553 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01860:Slco6c1
|
APN |
1 |
97,003,548 (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 |
2016-08-02 |
Incidental Mutation