Incidental Mutation 'IGL02559:Slco1a1'
| ID |
298601 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a1
|
| Ensembl Gene |
ENSMUSG00000041698 |
| Gene Name |
solute carrier organic anion transporter family, member 1a1 |
| Synonyms |
Slc21a1, Oatp1a1, Oatp1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
IGL02559
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141853008-141892688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 141867514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 473
(V473D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132386
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042119]
[ENSMUST00000168119]
|
| AlphaFold |
Q9QXZ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042119
AA Change: V473D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: V473D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
21 |
597 |
6e-168 |
PFAM |
|
Pfam:MFS_1
|
22 |
410 |
4.7e-28 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
1.2e-10 |
PFAM |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168119
AA Change: V473D
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: V473D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
21 |
597 |
1.6e-168 |
PFAM |
|
Pfam:MFS_1
|
22 |
410 |
1e-27 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
4.6e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171651
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired organic anion transporter activity and urinary metabolomic profiles. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,507,433 (GRCm39) |
Q1004* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,175,998 (GRCm39) |
D1914G |
probably damaging |
Het |
| Bcl11b |
A |
T |
12: 107,881,653 (GRCm39) |
|
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col24a1 |
A |
T |
3: 145,019,934 (GRCm39) |
I102F |
probably benign |
Het |
| Col7a1 |
C |
T |
9: 108,802,284 (GRCm39) |
R2063C |
unknown |
Het |
| Ddo |
T |
A |
10: 40,523,517 (GRCm39) |
L169Q |
probably damaging |
Het |
| Defb4 |
G |
T |
8: 19,251,313 (GRCm39) |
C60F |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,862,559 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
T |
6: 84,044,428 (GRCm39) |
|
probably benign |
Het |
| Fasn |
G |
A |
11: 120,699,892 (GRCm39) |
A2253V |
possibly damaging |
Het |
| Fbxw26 |
T |
C |
9: 109,551,232 (GRCm39) |
D355G |
probably benign |
Het |
| Gak |
C |
T |
5: 108,732,098 (GRCm39) |
E797K |
probably null |
Het |
| Gm10654 |
T |
C |
8: 71,384,774 (GRCm39) |
|
noncoding transcript |
Het |
| Gnas |
T |
C |
2: 174,183,729 (GRCm39) |
|
probably benign |
Het |
| H2bc11 |
T |
A |
13: 22,227,533 (GRCm39) |
V45E |
possibly damaging |
Het |
| Hdac3 |
A |
G |
18: 38,087,944 (GRCm39) |
F8S |
probably damaging |
Het |
| Hrh4 |
T |
C |
18: 13,140,301 (GRCm39) |
|
probably null |
Het |
| Klhl1 |
A |
G |
14: 96,389,396 (GRCm39) |
V586A |
possibly damaging |
Het |
| Lct |
T |
C |
1: 128,222,003 (GRCm39) |
N1512S |
probably damaging |
Het |
| Mmp28 |
G |
T |
11: 83,338,566 (GRCm39) |
N128K |
probably benign |
Het |
| Mndal |
T |
C |
1: 173,700,486 (GRCm39) |
T162A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
| Mylpf |
A |
G |
7: 126,813,315 (GRCm39) |
Y133C |
probably damaging |
Het |
| Nup210l |
G |
A |
3: 90,067,260 (GRCm39) |
A767T |
probably benign |
Het |
| Or10j3b |
T |
C |
1: 173,044,088 (GRCm39) |
V290A |
probably damaging |
Het |
| Or52n2 |
T |
A |
7: 104,542,161 (GRCm39) |
R225W |
probably benign |
Het |
| Or5au1 |
A |
G |
14: 52,273,464 (GRCm39) |
Y35H |
probably damaging |
Het |
| Paics |
A |
G |
5: 77,112,451 (GRCm39) |
I312V |
possibly damaging |
Het |
| Pkdrej |
G |
T |
15: 85,702,049 (GRCm39) |
Q1296K |
probably benign |
Het |
| Rufy1 |
A |
G |
11: 50,311,310 (GRCm39) |
F170L |
probably damaging |
Het |
| Shcbp1 |
T |
A |
8: 4,799,305 (GRCm39) |
E93V |
probably damaging |
Het |
| Slamf1 |
T |
A |
1: 171,594,826 (GRCm39) |
I11K |
possibly damaging |
Het |
| Slc5a5 |
C |
T |
8: 71,342,915 (GRCm39) |
G215D |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,709,524 (GRCm39) |
V123A |
probably benign |
Het |
| Srgap2 |
A |
C |
1: 131,452,674 (GRCm39) |
|
probably null |
Het |
| Stk32c |
T |
C |
7: 138,700,606 (GRCm39) |
M208V |
probably benign |
Het |
| Syt15 |
T |
C |
14: 33,943,760 (GRCm39) |
V103A |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,360,997 (GRCm39) |
L456Q |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,554,998 (GRCm39) |
|
probably benign |
Het |
| Tepsin |
G |
T |
11: 119,987,731 (GRCm39) |
D62E |
probably benign |
Het |
| Thap3 |
T |
C |
4: 152,068,144 (GRCm39) |
D106G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,616,561 (GRCm39) |
D14818G |
probably damaging |
Het |
| Txndc2 |
T |
C |
17: 65,946,585 (GRCm39) |
N39S |
possibly damaging |
Het |
| Ubxn11 |
A |
G |
4: 133,852,254 (GRCm39) |
E200G |
probably damaging |
Het |
| Vmn2r11 |
T |
G |
5: 109,200,046 (GRCm39) |
Q469P |
probably damaging |
Het |
| Yipf2 |
T |
C |
9: 21,503,482 (GRCm39) |
T22A |
probably damaging |
Het |
| Ypel1 |
T |
C |
16: 16,927,515 (GRCm39) |
K26E |
possibly damaging |
Het |
|
| Other mutations in Slco1a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Slco1a1
|
APN |
6 |
141,854,851 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00942:Slco1a1
|
APN |
6 |
141,892,354 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01301:Slco1a1
|
APN |
6 |
141,878,256 (GRCm39) |
splice site |
probably benign |
|
|
IGL01306:Slco1a1
|
APN |
6 |
141,892,313 (GRCm39) |
nonsense |
probably null |
|
|
IGL01774:Slco1a1
|
APN |
6 |
141,871,339 (GRCm39) |
nonsense |
probably null |
|
|
IGL02097:Slco1a1
|
APN |
6 |
141,885,765 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02183:Slco1a1
|
APN |
6 |
141,867,669 (GRCm39) |
splice site |
probably benign |
|
|
IGL02376:Slco1a1
|
APN |
6 |
141,870,060 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02550:Slco1a1
|
APN |
6 |
141,889,191 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02825:Slco1a1
|
APN |
6 |
141,864,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03352:Slco1a1
|
APN |
6 |
141,857,611 (GRCm39) |
missense |
probably benign |
0.00 |
|
ANU23:Slco1a1
|
UTSW |
6 |
141,892,313 (GRCm39) |
nonsense |
probably null |
|
|
R0041:Slco1a1
|
UTSW |
6 |
141,864,185 (GRCm39) |
splice site |
probably benign |
|
|
R0153:Slco1a1
|
UTSW |
6 |
141,856,427 (GRCm39) |
splice site |
probably benign |
|
|
R0610:Slco1a1
|
UTSW |
6 |
141,864,187 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0646:Slco1a1
|
UTSW |
6 |
141,871,480 (GRCm39) |
splice site |
probably benign |
|
|
R0828:Slco1a1
|
UTSW |
6 |
141,867,565 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1674:Slco1a1
|
UTSW |
6 |
141,881,661 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1848:Slco1a1
|
UTSW |
6 |
141,868,837 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3834:Slco1a1
|
UTSW |
6 |
141,889,163 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3953:Slco1a1
|
UTSW |
6 |
141,868,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3974:Slco1a1
|
UTSW |
6 |
141,854,819 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4081:Slco1a1
|
UTSW |
6 |
141,881,688 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4729:Slco1a1
|
UTSW |
6 |
141,854,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4752:Slco1a1
|
UTSW |
6 |
141,892,340 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4806:Slco1a1
|
UTSW |
6 |
141,854,735 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4812:Slco1a1
|
UTSW |
6 |
141,864,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4963:Slco1a1
|
UTSW |
6 |
141,868,825 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5641:Slco1a1
|
UTSW |
6 |
141,885,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Slco1a1
|
UTSW |
6 |
141,885,743 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6211:Slco1a1
|
UTSW |
6 |
141,854,775 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6225:Slco1a1
|
UTSW |
6 |
141,870,215 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6328:Slco1a1
|
UTSW |
6 |
141,878,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6428:Slco1a1
|
UTSW |
6 |
141,871,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6787:Slco1a1
|
UTSW |
6 |
141,882,213 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7182:Slco1a1
|
UTSW |
6 |
141,857,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7305:Slco1a1
|
UTSW |
6 |
141,870,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Slco1a1
|
UTSW |
6 |
141,882,134 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7723:Slco1a1
|
UTSW |
6 |
141,854,795 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7784:Slco1a1
|
UTSW |
6 |
141,889,114 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8348:Slco1a1
|
UTSW |
6 |
141,885,787 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8448:Slco1a1
|
UTSW |
6 |
141,885,787 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8856:Slco1a1
|
UTSW |
6 |
141,857,624 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9121:Slco1a1
|
UTSW |
6 |
141,892,542 (GRCm39) |
unclassified |
probably benign |
|
|
R9484:Slco1a1
|
UTSW |
6 |
141,854,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Slco1a1
|
UTSW |
6 |
141,885,744 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2015-04-16 |
Incidental Mutation