Incidental Mutation 'IGL01340:Slco1a6'
ID |
74792 |
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 # |
IGL01340
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
142031487-142131903 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 142055109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 278
(N278K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107458
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111827]
|
AlphaFold |
Q99J94 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111827
AA Change: N278K
PolyPhen 2
Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000107458 Gene: ENSMUSG00000079262 AA Change: N278K
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: ENSMUST00000174516
|
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 |
Abca9 |
T |
A |
11: 110,021,453 (GRCm39) |
I1086L |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,380,058 (GRCm39) |
C630* |
probably null |
Het |
Adgrg5 |
T |
C |
8: 95,664,257 (GRCm39) |
L289P |
probably damaging |
Het |
Aplp1 |
G |
A |
7: 30,143,843 (GRCm39) |
T64I |
probably damaging |
Het |
Bdh1 |
T |
A |
16: 31,275,661 (GRCm39) |
W261R |
probably damaging |
Het |
Cadm2 |
A |
T |
16: 66,581,672 (GRCm39) |
I202N |
possibly damaging |
Het |
Cd209c |
C |
T |
8: 3,995,892 (GRCm39) |
R6H |
probably benign |
Het |
Cfap221 |
T |
A |
1: 119,881,350 (GRCm39) |
I371F |
possibly damaging |
Het |
Cfap44 |
A |
G |
16: 44,224,493 (GRCm39) |
Y67C |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,183,256 (GRCm39) |
S387P |
probably damaging |
Het |
Cnot1 |
T |
C |
8: 96,487,165 (GRCm39) |
D598G |
probably damaging |
Het |
Col5a1 |
T |
C |
2: 27,850,463 (GRCm39) |
L520P |
unknown |
Het |
Cpvl |
A |
T |
6: 53,873,436 (GRCm39) |
Y433* |
probably null |
Het |
Cxcl1 |
G |
T |
5: 91,039,434 (GRCm39) |
C59F |
probably damaging |
Het |
Cyth3 |
T |
A |
5: 143,670,190 (GRCm39) |
L33* |
probably null |
Het |
Dnah2 |
T |
C |
11: 69,384,010 (GRCm39) |
K1069E |
probably damaging |
Het |
Drosha |
T |
A |
15: 12,834,109 (GRCm39) |
|
probably benign |
Het |
Fam83h |
T |
A |
15: 75,875,885 (GRCm39) |
D484V |
probably damaging |
Het |
Igsf3 |
C |
A |
3: 101,346,995 (GRCm39) |
Y663* |
probably null |
Het |
Kmt5c |
C |
T |
7: 4,745,140 (GRCm39) |
R44* |
probably null |
Het |
Kxd1 |
T |
C |
8: 70,968,093 (GRCm39) |
|
probably null |
Het |
Lars1 |
A |
G |
18: 42,335,642 (GRCm39) |
V1158A |
probably benign |
Het |
Lmf2 |
A |
G |
15: 89,237,075 (GRCm39) |
F413S |
probably damaging |
Het |
Mc4r |
C |
T |
18: 66,992,229 (GRCm39) |
A295T |
probably benign |
Het |
Mrc1 |
T |
C |
2: 14,314,895 (GRCm39) |
|
probably null |
Het |
Mtmr7 |
T |
C |
8: 41,050,465 (GRCm39) |
Y110C |
probably damaging |
Het |
Myd88 |
A |
C |
9: 119,166,418 (GRCm39) |
|
probably benign |
Het |
Ndc1 |
T |
C |
4: 107,231,344 (GRCm39) |
V95A |
probably damaging |
Het |
Ntrk1 |
T |
A |
3: 87,696,021 (GRCm39) |
E163V |
possibly damaging |
Het |
Or4p8 |
T |
C |
2: 88,727,321 (GRCm39) |
T207A |
probably damaging |
Het |
Pappa |
A |
T |
4: 65,242,109 (GRCm39) |
D1491V |
possibly damaging |
Het |
Phc3 |
T |
A |
3: 30,984,033 (GRCm39) |
I673F |
possibly damaging |
Het |
Pkhd1 |
A |
T |
1: 20,593,201 (GRCm39) |
N1637K |
probably benign |
Het |
Relb |
T |
C |
7: 19,350,298 (GRCm39) |
I218V |
probably benign |
Het |
Rgma |
T |
C |
7: 73,067,078 (GRCm39) |
F111S |
probably damaging |
Het |
Slfn9 |
A |
T |
11: 82,872,577 (GRCm39) |
F720I |
probably benign |
Het |
Snd1 |
T |
A |
6: 28,883,368 (GRCm39) |
V741E |
probably benign |
Het |
Snx6 |
C |
T |
12: 54,801,094 (GRCm39) |
R185Q |
probably damaging |
Het |
Spata31g1 |
A |
C |
4: 42,971,984 (GRCm39) |
E439A |
possibly damaging |
Het |
Telo2 |
G |
A |
17: 25,319,103 (GRCm39) |
|
probably benign |
Het |
Wdr91 |
A |
G |
6: 34,881,514 (GRCm39) |
S278P |
probably benign |
Het |
Xab2 |
A |
T |
8: 3,664,381 (GRCm39) |
D277E |
probably damaging |
Het |
Zbbx |
T |
C |
3: 75,012,957 (GRCm39) |
E158G |
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 |
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 |
2013-10-07 |