Incidental Mutation 'IGL02049:Slco1a6'
| ID |
185050 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a6
|
| Ensembl Gene |
ENSMUSG00000079262 |
| Gene Name |
solute carrier organic anion transporter family, member 1a6 |
| Synonyms |
Slc21a13, Oatp-5, organic anion-transporting polypeptide, 4930422F19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL02049
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142031487-142131903 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 142047309 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111827]
|
| AlphaFold |
Q99J94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111827
|
| SMART Domains |
Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MFS_1
|
21 |
421 |
7.8e-26 |
PFAM |
|
Pfam:OATP
|
21 |
597 |
1.3e-163 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
2.7e-11 |
PFAM |
|
transmembrane domain
|
600 |
619 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
T |
A |
2: 35,254,801 (GRCm39) |
R27S |
probably benign |
Het |
| 4930596D02Rik |
C |
A |
14: 35,533,535 (GRCm39) |
V78L |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,595,704 (GRCm39) |
C352* |
probably null |
Het |
| Acat3 |
T |
A |
17: 13,144,207 (GRCm39) |
Y324F |
probably benign |
Het |
| Adamts8 |
T |
C |
9: 30,862,650 (GRCm39) |
V285A |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,484,929 (GRCm39) |
I652T |
probably damaging |
Het |
| Arhgef6 |
T |
A |
X: 56,321,271 (GRCm39) |
Q320L |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,094,860 (GRCm39) |
I60K |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,854,642 (GRCm39) |
V145A |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,580,880 (GRCm39) |
T1674A |
probably benign |
Het |
| Capn2 |
A |
T |
1: 182,301,519 (GRCm39) |
|
probably benign |
Het |
| Cfd |
A |
G |
10: 79,726,776 (GRCm39) |
Y6C |
probably benign |
Het |
| Cps1 |
A |
G |
1: 67,183,113 (GRCm39) |
K157R |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,864,870 (GRCm39) |
R786S |
possibly damaging |
Het |
| Dna2 |
A |
T |
10: 62,792,815 (GRCm39) |
I277L |
probably damaging |
Het |
| Gm5168 |
A |
T |
X: 25,999,005 (GRCm39) |
D50E |
probably damaging |
Het |
| Grik4 |
T |
A |
9: 42,455,049 (GRCm39) |
|
probably benign |
Het |
| Ift56 |
A |
G |
6: 38,402,067 (GRCm39) |
T520A |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,811,913 (GRCm39) |
|
probably benign |
Het |
| Klk10 |
A |
T |
7: 43,433,882 (GRCm39) |
|
probably benign |
Het |
| Kng1 |
A |
G |
16: 22,892,187 (GRCm39) |
Y250C |
probably damaging |
Het |
| Las1l |
A |
T |
X: 94,981,059 (GRCm39) |
M690K |
probably benign |
Het |
| Mug1 |
T |
A |
6: 121,848,295 (GRCm39) |
M673K |
probably benign |
Het |
| Myh9 |
T |
C |
15: 77,654,070 (GRCm39) |
H1245R |
probably benign |
Het |
| Oprk1 |
C |
T |
1: 5,669,067 (GRCm39) |
T171I |
probably damaging |
Het |
| Pgm5 |
A |
T |
19: 24,801,782 (GRCm39) |
S149T |
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,736,847 (GRCm39) |
N424S |
probably benign |
Het |
| Plec |
A |
T |
15: 76,063,149 (GRCm39) |
L2334Q |
probably damaging |
Het |
| Pus7l |
G |
A |
15: 94,438,059 (GRCm39) |
S262F |
probably damaging |
Het |
| Rps24 |
C |
A |
14: 24,541,823 (GRCm39) |
D3E |
probably benign |
Het |
| Rxfp1 |
T |
C |
3: 79,557,799 (GRCm39) |
N560D |
probably damaging |
Het |
| Sema3c |
C |
T |
5: 17,926,923 (GRCm39) |
|
probably benign |
Het |
| Slc47a2 |
A |
G |
11: 61,233,365 (GRCm39) |
F55S |
probably damaging |
Het |
| Taf4b |
A |
T |
18: 14,963,196 (GRCm39) |
E645D |
probably benign |
Het |
| Tmem161a |
T |
A |
8: 70,631,624 (GRCm39) |
V158E |
probably damaging |
Het |
| Trav13-2 |
A |
G |
14: 53,872,604 (GRCm39) |
S27G |
possibly damaging |
Het |
| Trav13-2 |
G |
T |
14: 53,872,603 (GRCm39) |
Q26H |
probably damaging |
Het |
| Trav13-2 |
A |
T |
14: 53,872,602 (GRCm39) |
Q26L |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,608 (GRCm39) |
H305L |
probably benign |
Het |
| Zfp263 |
A |
G |
16: 3,562,482 (GRCm39) |
I82V |
probably damaging |
Het |
|
| Other mutations in Slco1a6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00422:Slco1a6
|
APN |
6 |
142,106,743 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00430:Slco1a6
|
APN |
6 |
142,047,377 (GRCm39) |
nonsense |
probably null |
|
|
IGL00541:Slco1a6
|
APN |
6 |
142,042,025 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01340:Slco1a6
|
APN |
6 |
142,055,109 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01693:Slco1a6
|
APN |
6 |
142,078,935 (GRCm39) |
nonsense |
probably null |
|
|
IGL01713:Slco1a6
|
APN |
6 |
142,032,293 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL01828:Slco1a6
|
APN |
6 |
142,042,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02085:Slco1a6
|
APN |
6 |
142,032,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02245:Slco1a6
|
APN |
6 |
142,055,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02549:Slco1a6
|
APN |
6 |
142,042,141 (GRCm39) |
splice site |
probably benign |
|
|
IGL02698:Slco1a6
|
APN |
6 |
142,048,737 (GRCm39) |
nonsense |
probably null |
|
|
IGL02948:Slco1a6
|
APN |
6 |
142,078,961 (GRCm39) |
splice site |
probably null |
|
|
IGL03075:Slco1a6
|
APN |
6 |
142,048,875 (GRCm39) |
splice site |
probably benign |
|
|
PIT4585001:Slco1a6
|
UTSW |
6 |
142,055,246 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0008:Slco1a6
|
UTSW |
6 |
142,102,948 (GRCm39) |
unclassified |
probably benign |
|
|
R0106:Slco1a6
|
UTSW |
6 |
142,103,116 (GRCm39) |
unclassified |
probably benign |
|
|
R0106:Slco1a6
|
UTSW |
6 |
142,103,116 (GRCm39) |
unclassified |
probably benign |
|
|
R0173:Slco1a6
|
UTSW |
6 |
142,048,848 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1642:Slco1a6
|
UTSW |
6 |
142,032,160 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1939:Slco1a6
|
UTSW |
6 |
142,078,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2256:Slco1a6
|
UTSW |
6 |
142,036,742 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2257:Slco1a6
|
UTSW |
6 |
142,036,742 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2696:Slco1a6
|
UTSW |
6 |
142,058,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2902:Slco1a6
|
UTSW |
6 |
142,042,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4602:Slco1a6
|
UTSW |
6 |
142,047,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4611:Slco1a6
|
UTSW |
6 |
142,047,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4958:Slco1a6
|
UTSW |
6 |
142,091,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5256:Slco1a6
|
UTSW |
6 |
142,078,427 (GRCm39) |
missense |
probably benign |
0.39 |
|
R5347:Slco1a6
|
UTSW |
6 |
142,032,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6130:Slco1a6
|
UTSW |
6 |
142,032,155 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6384:Slco1a6
|
UTSW |
6 |
142,055,105 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6543:Slco1a6
|
UTSW |
6 |
142,078,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6662:Slco1a6
|
UTSW |
6 |
142,078,941 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6687:Slco1a6
|
UTSW |
6 |
142,045,076 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6702:Slco1a6
|
UTSW |
6 |
142,048,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7012:Slco1a6
|
UTSW |
6 |
142,032,287 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7140:Slco1a6
|
UTSW |
6 |
142,048,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7392:Slco1a6
|
UTSW |
6 |
142,103,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7399:Slco1a6
|
UTSW |
6 |
142,036,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7476:Slco1a6
|
UTSW |
6 |
142,048,727 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7621:Slco1a6
|
UTSW |
6 |
142,106,743 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7633:Slco1a6
|
UTSW |
6 |
142,091,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8139:Slco1a6
|
UTSW |
6 |
142,035,626 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Slco1a6
|
UTSW |
6 |
142,047,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8768:Slco1a6
|
UTSW |
6 |
142,078,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8957:Slco1a6
|
UTSW |
6 |
142,091,493 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9090:Slco1a6
|
UTSW |
6 |
142,035,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9271:Slco1a6
|
UTSW |
6 |
142,035,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation