Incidental Mutation 'IGL03075:Slco1a6'
ID |
417668 |
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 # |
IGL03075
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
142031487-142131903 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 142048875 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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
G |
A |
13: 4,322,254 (GRCm39) |
R263C |
probably damaging |
Het |
Axdnd1 |
A |
T |
1: 156,223,012 (GRCm39) |
S217T |
probably damaging |
Het |
Crtc3 |
G |
A |
7: 80,254,151 (GRCm39) |
|
probably benign |
Het |
Ctnna2 |
A |
T |
6: 76,931,713 (GRCm39) |
M642K |
probably benign |
Het |
Ddx56 |
A |
T |
11: 6,211,632 (GRCm39) |
H491Q |
probably benign |
Het |
Dvl1 |
A |
G |
4: 155,939,040 (GRCm39) |
E208G |
probably damaging |
Het |
Fam135a |
A |
G |
1: 24,069,987 (GRCm39) |
|
probably benign |
Het |
Gabpa |
T |
A |
16: 84,649,495 (GRCm39) |
V234D |
possibly damaging |
Het |
Gjb4 |
A |
G |
4: 127,245,386 (GRCm39) |
V185A |
possibly damaging |
Het |
Hlcs |
C |
T |
16: 93,939,706 (GRCm39) |
A149T |
probably damaging |
Het |
Il1f10 |
T |
A |
2: 24,183,188 (GRCm39) |
I44N |
possibly damaging |
Het |
Itih4 |
A |
G |
14: 30,614,240 (GRCm39) |
I397V |
probably benign |
Het |
Kat6b |
C |
T |
14: 21,711,638 (GRCm39) |
R820* |
probably null |
Het |
Mmp17 |
T |
C |
5: 129,672,138 (GRCm39) |
L137P |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,071,662 (GRCm39) |
N493S |
probably benign |
Het |
Myo9b |
A |
T |
8: 71,807,171 (GRCm39) |
Q1589L |
probably damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,298 (GRCm39) |
L285Q |
probably damaging |
Het |
Or5ac20 |
T |
A |
16: 59,104,291 (GRCm39) |
T190S |
possibly damaging |
Het |
Osbpl8 |
A |
G |
10: 111,127,417 (GRCm39) |
I834V |
probably benign |
Het |
P2ry12 |
A |
T |
3: 59,125,579 (GRCm39) |
V32D |
probably damaging |
Het |
Polg |
A |
G |
7: 79,101,660 (GRCm39) |
V1052A |
probably damaging |
Het |
Prss38 |
A |
C |
11: 59,263,881 (GRCm39) |
V277G |
probably damaging |
Het |
Rell2 |
G |
T |
18: 38,090,734 (GRCm39) |
R137L |
probably damaging |
Het |
Ro60 |
A |
C |
1: 143,646,509 (GRCm39) |
S79A |
probably benign |
Het |
Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
Smyd2 |
T |
A |
1: 189,621,029 (GRCm39) |
I230F |
probably damaging |
Het |
Sv2b |
G |
T |
7: 74,786,068 (GRCm39) |
H451N |
probably benign |
Het |
Tbpl2 |
A |
T |
2: 23,961,997 (GRCm39) |
|
probably benign |
Het |
Tmprss9 |
A |
G |
10: 80,719,863 (GRCm39) |
D144G |
possibly damaging |
Het |
Vwa8 |
T |
C |
14: 79,171,196 (GRCm39) |
Y247H |
probably damaging |
Het |
Zc3h15 |
T |
C |
2: 83,492,535 (GRCm39) |
Y337H |
possibly 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 |
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 |
|
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 |
2016-08-02 |