Incidental Mutation 'IGL00942:Slco1a1'
| ID |
27646 |
| 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 # |
IGL00942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141853008-141892688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 141892354 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 4
(T4I)
|
| 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: T4I
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: T4I
| 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: T4I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: T4I
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
A |
C |
5: 62,855,732 (GRCm39) |
L568* |
probably null |
Het |
| Arfgef2 |
G |
A |
2: 166,727,773 (GRCm39) |
V1574M |
probably damaging |
Het |
| Arhgef12 |
C |
T |
9: 42,893,296 (GRCm39) |
R969H |
probably damaging |
Het |
| Cacng1 |
A |
T |
11: 107,595,195 (GRCm39) |
F127L |
probably benign |
Het |
| Cntnap5c |
T |
C |
17: 58,076,593 (GRCm39) |
V10A |
probably benign |
Het |
| Crtac1 |
T |
G |
19: 42,312,233 (GRCm39) |
D160A |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,710,502 (GRCm39) |
|
probably null |
Het |
| Grin3a |
A |
G |
4: 49,770,589 (GRCm39) |
F728L |
probably damaging |
Het |
| H3c1 |
T |
C |
13: 23,945,921 (GRCm39) |
|
probably benign |
Het |
| Hecw1 |
C |
T |
13: 14,515,325 (GRCm39) |
|
probably benign |
Het |
| Iyd |
C |
T |
10: 3,554,070 (GRCm38) |
C239F |
probably damaging |
Het |
| Madd |
A |
G |
2: 91,000,923 (GRCm39) |
V486A |
probably damaging |
Het |
| Map3k7 |
A |
G |
4: 32,019,539 (GRCm39) |
D533G |
probably damaging |
Het |
| Matk |
A |
G |
10: 81,094,128 (GRCm39) |
D20G |
probably benign |
Het |
| Mphosph10 |
A |
G |
7: 64,039,503 (GRCm39) |
S156P |
probably benign |
Het |
| Mtif2 |
G |
A |
11: 29,488,753 (GRCm39) |
E356K |
probably damaging |
Het |
| Ndufb10 |
T |
C |
17: 24,943,158 (GRCm39) |
|
probably null |
Het |
| Nipal3 |
A |
T |
4: 135,195,904 (GRCm39) |
L233Q |
possibly damaging |
Het |
| Or7e169 |
T |
C |
9: 19,757,555 (GRCm39) |
Y120C |
probably damaging |
Het |
| Prss32 |
T |
A |
17: 24,078,134 (GRCm39) |
C273* |
probably null |
Het |
| Prtg |
T |
C |
9: 72,799,622 (GRCm39) |
S807P |
possibly damaging |
Het |
| Ric3 |
T |
G |
7: 108,653,619 (GRCm39) |
E157D |
probably damaging |
Het |
| Ric3 |
T |
A |
7: 108,653,620 (GRCm39) |
E157V |
probably damaging |
Het |
| Slc16a14 |
G |
A |
1: 84,900,592 (GRCm39) |
T131I |
probably damaging |
Het |
| Slc1a2 |
A |
T |
2: 102,570,159 (GRCm39) |
N137Y |
probably damaging |
Het |
| Slc25a27 |
T |
C |
17: 43,974,980 (GRCm39) |
I94V |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,192,066 (GRCm39) |
F923I |
possibly damaging |
Het |
| Taf7l2 |
A |
G |
10: 115,949,341 (GRCm39) |
S62P |
possibly damaging |
Het |
| Ttll12 |
A |
C |
15: 83,466,649 (GRCm39) |
V306G |
possibly damaging |
Het |
| Tulp2 |
G |
A |
7: 45,165,692 (GRCm39) |
V97I |
possibly damaging |
Het |
| Vmn2r65 |
T |
G |
7: 84,592,761 (GRCm39) |
Q482P |
probably damaging |
Het |
| Wdr24 |
T |
A |
17: 26,045,595 (GRCm39) |
N443K |
probably benign |
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 |
|
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 |
|
IGL02559:Slco1a1
|
APN |
6 |
141,867,514 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
2013-04-17 |
Incidental Mutation