Incidental Mutation 'IGL03352:Slco1a1'
| ID |
419754 |
| 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 # |
IGL03352
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141853008-141892688 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 141857611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 573
(R573S)
|
| 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: R573S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000037022
Gene: ENSMUSG00000041698
AA Change: R573S
| 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 |
noncoding transcript
Transcript: ENSMUST00000157279
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168119
AA Change: R573S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000132386
Gene: ENSMUSG00000041698
AA Change: R573S
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoah |
A |
G |
13: 21,184,213 (GRCm39) |
S426G |
probably benign |
Het |
| Arap3 |
T |
C |
18: 38,114,355 (GRCm39) |
|
probably benign |
Het |
| Arhgap45 |
T |
A |
10: 79,866,585 (GRCm39) |
N1029K |
probably damaging |
Het |
| Arhgef10l |
A |
T |
4: 140,311,242 (GRCm39) |
M1K |
probably null |
Het |
| Bloc1s6 |
T |
C |
2: 122,584,638 (GRCm39) |
L71P |
probably damaging |
Het |
| Ccer1 |
G |
T |
10: 97,529,439 (GRCm39) |
R34M |
unknown |
Het |
| Cd44 |
T |
C |
2: 102,675,759 (GRCm39) |
|
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,669,814 (GRCm39) |
|
probably null |
Het |
| Cspp1 |
A |
G |
1: 10,117,662 (GRCm39) |
E38G |
possibly damaging |
Het |
| Dock10 |
A |
T |
1: 80,584,013 (GRCm39) |
|
probably benign |
Het |
| Dsg3 |
A |
T |
18: 20,660,689 (GRCm39) |
M343L |
probably benign |
Het |
| Eif3l |
G |
A |
15: 78,961,251 (GRCm39) |
|
probably benign |
Het |
| Fcrl1 |
T |
C |
3: 87,292,398 (GRCm39) |
L150P |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,109,801 (GRCm39) |
S610A |
unknown |
Het |
| Grin3b |
C |
T |
10: 79,809,615 (GRCm39) |
R374C |
probably damaging |
Het |
| H2-Oa |
A |
T |
17: 34,313,377 (GRCm39) |
I143F |
probably damaging |
Het |
| Itgae |
C |
T |
11: 73,022,556 (GRCm39) |
P924S |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,058,602 (GRCm39) |
D2521V |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,475,445 (GRCm39) |
M468K |
probably damaging |
Het |
| Laptm4a |
G |
A |
12: 8,981,719 (GRCm39) |
G143D |
probably benign |
Het |
| Lrp6 |
T |
C |
6: 134,456,726 (GRCm39) |
Y846C |
probably damaging |
Het |
| Mcm10 |
A |
T |
2: 4,999,407 (GRCm39) |
S749T |
probably damaging |
Het |
| Nemf |
T |
C |
12: 69,378,679 (GRCm39) |
N548D |
probably damaging |
Het |
| Nlrp4e |
T |
A |
7: 23,020,251 (GRCm39) |
L246Q |
probably damaging |
Het |
| Nsun6 |
A |
T |
2: 15,001,157 (GRCm39) |
C466* |
probably null |
Het |
| Olfm2 |
T |
C |
9: 20,580,019 (GRCm39) |
D252G |
probably damaging |
Het |
| Or10j5 |
A |
C |
1: 172,784,850 (GRCm39) |
M163L |
probably benign |
Het |
| Or14j9 |
T |
A |
17: 37,874,681 (GRCm39) |
I174F |
probably damaging |
Het |
| Or2h1 |
G |
A |
17: 37,404,311 (GRCm39) |
L152F |
probably benign |
Het |
| Or9i14 |
T |
C |
19: 13,792,292 (GRCm39) |
I221V |
probably damaging |
Het |
| Pcdhb14 |
C |
T |
18: 37,582,057 (GRCm39) |
R388C |
possibly damaging |
Het |
| Piwil1 |
C |
T |
5: 128,828,136 (GRCm39) |
T712I |
probably benign |
Het |
| Piwil4 |
G |
T |
9: 14,637,183 (GRCm39) |
T377K |
probably damaging |
Het |
| Prg3 |
T |
C |
2: 84,823,370 (GRCm39) |
F182L |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,575,666 (GRCm39) |
V19A |
probably damaging |
Het |
| Rpl21-ps4 |
A |
T |
14: 11,227,760 (GRCm38) |
|
noncoding transcript |
Het |
| Sh3glb2 |
A |
G |
2: 30,235,363 (GRCm39) |
V370A |
probably damaging |
Het |
| Skint4 |
G |
T |
4: 112,022,883 (GRCm39) |
W459C |
possibly damaging |
Het |
| Smgc |
T |
C |
15: 91,744,876 (GRCm39) |
S694P |
probably damaging |
Het |
| Spaca6 |
A |
G |
17: 18,058,401 (GRCm39) |
Y7C |
probably damaging |
Het |
| Spn |
T |
C |
7: 126,736,178 (GRCm39) |
T110A |
probably benign |
Het |
| Tepsin |
C |
T |
11: 119,982,703 (GRCm39) |
V456I |
probably benign |
Het |
| Tex261 |
C |
T |
6: 83,748,249 (GRCm39) |
R171Q |
possibly damaging |
Het |
| Tmem184a |
A |
T |
5: 139,798,755 (GRCm39) |
F65I |
probably damaging |
Het |
| Tpm3 |
G |
A |
3: 89,995,052 (GRCm39) |
|
probably null |
Het |
| Tubgcp2 |
T |
A |
7: 139,580,940 (GRCm39) |
H671L |
probably benign |
Het |
| Unc13b |
T |
G |
4: 43,237,110 (GRCm39) |
D3393E |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,853,125 (GRCm39) |
M612L |
probably benign |
Het |
| Vmn1r180 |
C |
A |
7: 23,652,077 (GRCm39) |
S80* |
probably null |
Het |
| Vmn1r64 |
C |
T |
7: 5,887,070 (GRCm39) |
V158I |
probably benign |
Het |
| Vps13d |
C |
T |
4: 144,894,072 (GRCm39) |
V496I |
possibly damaging |
Het |
| Wee2 |
T |
G |
6: 40,429,589 (GRCm39) |
|
probably null |
Het |
| Zfp804b |
T |
C |
5: 6,820,039 (GRCm39) |
N972S |
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 |
|
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation