Incidental Mutation 'IGL00422:Slco1a6'
ID |
5350 |
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 # |
IGL00422
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
142031487-142131903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 142106743 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Glycine
at position 15
(C15G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111827]
[ENSMUST00000174455]
|
AlphaFold |
Q99J94 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000111827
AA Change: C15G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000107458 Gene: ENSMUSG00000079262 AA Change: C15G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172984
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173877
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000174455
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
C |
T |
19: 57,056,618 (GRCm39) |
A359T |
probably damaging |
Het |
Adam34l |
A |
G |
8: 44,079,388 (GRCm39) |
F279L |
probably damaging |
Het |
Ajuba |
A |
T |
14: 54,809,226 (GRCm39) |
Y400* |
probably null |
Het |
Cckar |
T |
A |
5: 53,857,171 (GRCm39) |
D342V |
possibly damaging |
Het |
Cdc123 |
A |
G |
2: 5,803,260 (GRCm39) |
V253A |
probably benign |
Het |
Cep162 |
T |
C |
9: 87,109,220 (GRCm39) |
D461G |
probably benign |
Het |
Chd7 |
G |
A |
4: 8,859,106 (GRCm39) |
E2399K |
probably damaging |
Het |
Cln8 |
G |
A |
8: 14,946,637 (GRCm39) |
C217Y |
probably benign |
Het |
Dchs1 |
A |
G |
7: 105,407,236 (GRCm39) |
V2119A |
possibly damaging |
Het |
Dhx33 |
T |
C |
11: 70,892,446 (GRCm39) |
S108G |
probably benign |
Het |
Dip2a |
T |
A |
10: 76,149,070 (GRCm39) |
M194L |
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,031,831 (GRCm39) |
K1779R |
probably damaging |
Het |
Fads3 |
T |
G |
19: 10,033,045 (GRCm39) |
F328V |
possibly damaging |
Het |
Flad1 |
A |
G |
3: 89,313,160 (GRCm39) |
|
probably null |
Het |
Gm7535 |
G |
T |
17: 18,132,150 (GRCm39) |
|
probably benign |
Het |
Gnpat |
A |
G |
8: 125,611,752 (GRCm39) |
E513G |
probably damaging |
Het |
H2-M5 |
A |
G |
17: 37,298,732 (GRCm39) |
I238T |
probably damaging |
Het |
Hoxd12 |
G |
A |
2: 74,505,771 (GRCm39) |
R114Q |
probably damaging |
Het |
Ide |
T |
C |
19: 37,253,931 (GRCm39) |
I903V |
unknown |
Het |
Ifi209 |
T |
G |
1: 173,466,529 (GRCm39) |
D120E |
possibly damaging |
Het |
Map3k10 |
T |
C |
7: 27,367,894 (GRCm39) |
D248G |
probably damaging |
Het |
Mat2b |
C |
A |
11: 40,578,565 (GRCm39) |
G41C |
probably damaging |
Het |
Mfsd4a |
T |
C |
1: 131,968,332 (GRCm39) |
I369V |
probably benign |
Het |
Myom1 |
T |
A |
17: 71,433,093 (GRCm39) |
V1480E |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,119,490 (GRCm39) |
D127V |
probably damaging |
Het |
Olfml2b |
T |
A |
1: 170,496,635 (GRCm39) |
V422E |
probably damaging |
Het |
Pkn3 |
G |
A |
2: 29,971,116 (GRCm39) |
A228T |
probably damaging |
Het |
Rad17 |
A |
T |
13: 100,766,033 (GRCm39) |
I365K |
probably benign |
Het |
Rad17 |
A |
T |
13: 100,766,031 (GRCm39) |
S366T |
probably damaging |
Het |
Rpp14 |
G |
A |
14: 8,083,934 (GRCm38) |
G30E |
possibly damaging |
Het |
Spag9 |
T |
A |
11: 93,988,692 (GRCm39) |
F571I |
probably benign |
Het |
Ttc27 |
T |
A |
17: 75,087,811 (GRCm39) |
C459S |
probably damaging |
Het |
Washc2 |
A |
G |
6: 116,233,637 (GRCm39) |
T888A |
probably benign |
Het |
Zcchc7 |
A |
T |
4: 44,931,318 (GRCm39) |
H490L |
possibly damaging |
Het |
|
Other mutations in Slco1a6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02049:Slco1a6
|
APN |
6 |
142,047,309 (GRCm39) |
splice site |
probably benign |
|
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 |
2012-04-20 |