Incidental Mutation 'IGL01693:Slco1a6'
| ID |
104169 |
| 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: 0.058)
|
| Stock # |
IGL01693
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
142031487-142131903 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 142078935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Stop codon
at position 120
(S120*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107458
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111827]
|
| AlphaFold |
Q99J94 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111827
AA Change: S120*
|
| SMART Domains |
Protein: ENSMUSP00000107458
Gene: ENSMUSG00000079262
AA Change: S120*
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1b8 |
T |
A |
6: 34,340,271 (GRCm39) |
M145K |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,610,167 (GRCm39) |
D943G |
probably null |
Het |
| Arhgap42 |
A |
T |
9: 9,006,507 (GRCm39) |
W630R |
probably damaging |
Het |
| Bbs5 |
T |
A |
2: 69,493,424 (GRCm39) |
S225T |
probably benign |
Het |
| Cacna1f |
A |
T |
X: 7,491,606 (GRCm39) |
N1159Y |
probably damaging |
Het |
| Catsperg1 |
A |
G |
7: 28,884,523 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
A |
C |
19: 21,779,251 (GRCm39) |
I354L |
probably benign |
Het |
| Cep15 |
T |
C |
14: 12,287,380 (GRCm38) |
L55P |
probably damaging |
Het |
| Cep97 |
A |
T |
16: 55,750,957 (GRCm39) |
W20R |
probably damaging |
Het |
| Cmtm8 |
G |
A |
9: 114,618,773 (GRCm39) |
T160M |
probably damaging |
Het |
| Csf2ra |
A |
G |
19: 61,214,434 (GRCm39) |
S244P |
possibly damaging |
Het |
| Dnah7b |
C |
T |
1: 46,397,307 (GRCm39) |
P3913S |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,944,527 (GRCm39) |
|
probably null |
Het |
| Ezh1 |
C |
T |
11: 101,106,084 (GRCm39) |
M100I |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,778,653 (GRCm39) |
P189Q |
probably damaging |
Het |
| Gcnt2 |
G |
A |
13: 41,041,549 (GRCm39) |
S236N |
probably benign |
Het |
| H1f7 |
A |
C |
15: 98,154,262 (GRCm39) |
Y296D |
unknown |
Het |
| Hmcn1 |
T |
A |
1: 150,459,031 (GRCm39) |
D5191V |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,365,415 (GRCm39) |
D4194E |
probably damaging |
Het |
| Ncf2 |
C |
A |
1: 152,700,074 (GRCm39) |
T203K |
probably benign |
Het |
| Or5a1 |
C |
A |
19: 12,097,921 (GRCm39) |
V40L |
probably benign |
Het |
| Pate8 |
G |
A |
9: 36,492,662 (GRCm39) |
T81I |
probably benign |
Het |
| Phf8 |
T |
A |
X: 150,333,871 (GRCm39) |
V113E |
probably damaging |
Het |
| Pkm |
G |
T |
9: 59,577,805 (GRCm39) |
K207N |
probably damaging |
Het |
| Sox10 |
C |
T |
15: 79,040,473 (GRCm39) |
V195M |
possibly damaging |
Het |
| Swt1 |
A |
G |
1: 151,297,855 (GRCm39) |
I24T |
probably benign |
Het |
| Thada |
T |
C |
17: 84,754,072 (GRCm39) |
T300A |
probably benign |
Het |
| Vmn2r17 |
T |
C |
5: 109,600,384 (GRCm39) |
Y561H |
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 |
|
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 |
2014-01-21 |
Incidental Mutation