Incidental Mutation 'IGL01735:Slco1a4'
| ID |
105667 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slco1a4
|
| Ensembl Gene |
ENSMUSG00000030237 |
| Gene Name |
solute carrier organic anion transporter family, member 1a4 |
| Synonyms |
Oatp2, Oatp1a4, Slc21a5 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
IGL01735
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
141751166-141801925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 141763477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 413
(F413S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130746
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032364]
[ENSMUST00000165990]
|
| AlphaFold |
Q9EP96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032364
AA Change: F413S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000032364
Gene: ENSMUSG00000030237
AA Change: F413S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
19 |
598 |
3.2e-196 |
PFAM |
|
Pfam:MFS_1
|
22 |
421 |
9.2e-27 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
5e-10 |
PFAM |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165990
AA Change: F413S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000130746
Gene: ENSMUSG00000030237
AA Change: F413S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OATP
|
21 |
597 |
3.2e-164 |
PFAM |
|
Pfam:MFS_1
|
22 |
421 |
7.2e-27 |
PFAM |
|
Pfam:Kazal_2
|
445 |
486 |
6.8e-11 |
PFAM |
|
transmembrane domain
|
600 |
622 |
N/A |
INTRINSIC |
|
| 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 |
|---|
| Adcy3 |
A |
T |
12: 4,251,213 (GRCm39) |
M612L |
probably benign |
Het |
| Adhfe1 |
C |
A |
1: 9,618,373 (GRCm39) |
T19K |
possibly damaging |
Het |
| Atxn1 |
C |
T |
13: 45,720,198 (GRCm39) |
V566M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,364,737 (GRCm39) |
|
probably benign |
Het |
| Cdkl1 |
T |
G |
12: 69,797,514 (GRCm39) |
Y258S |
probably benign |
Het |
| Chil6 |
A |
T |
3: 106,296,004 (GRCm39) |
|
probably null |
Het |
| Clcn7 |
T |
C |
17: 25,370,090 (GRCm39) |
F326L |
probably benign |
Het |
| Cngb3 |
A |
G |
4: 19,415,648 (GRCm39) |
Y386C |
probably damaging |
Het |
| Dnah6 |
C |
A |
6: 73,053,643 (GRCm39) |
E2916* |
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,362,961 (GRCm39) |
E3841G |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,489,276 (GRCm39) |
V3493L |
probably benign |
Het |
| Irx5 |
A |
T |
8: 93,087,331 (GRCm39) |
H421L |
probably damaging |
Het |
| Kbtbd6 |
T |
C |
14: 79,690,889 (GRCm39) |
V465A |
probably damaging |
Het |
| Kcp |
T |
A |
6: 29,498,878 (GRCm39) |
N340I |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,347,053 (GRCm39) |
M73V |
probably benign |
Het |
| Lpar1 |
A |
G |
4: 58,437,407 (GRCm39) |
S341P |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,234,968 (GRCm39) |
V838I |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,170,675 (GRCm39) |
I1652V |
probably damaging |
Het |
| Myo5c |
A |
T |
9: 75,208,720 (GRCm39) |
D1677V |
probably damaging |
Het |
| Ncoa2 |
A |
T |
1: 13,235,127 (GRCm39) |
N935K |
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,321,435 (GRCm39) |
S711P |
possibly damaging |
Het |
| Or1j20 |
C |
A |
2: 36,759,698 (GRCm39) |
T40K |
possibly damaging |
Het |
| Or52ae7 |
T |
C |
7: 103,119,530 (GRCm39) |
F95L |
probably damaging |
Het |
| Or5w16 |
A |
G |
2: 87,576,650 (GRCm39) |
I37V |
probably benign |
Het |
| Pramel27 |
A |
G |
4: 143,578,401 (GRCm39) |
I220M |
probably damaging |
Het |
| Prl7d1 |
A |
G |
13: 27,898,372 (GRCm39) |
F47L |
possibly damaging |
Het |
| Ptprd |
A |
C |
4: 76,055,057 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
C |
A |
10: 74,860,992 (GRCm39) |
G103C |
probably damaging |
Het |
| Slfn9 |
A |
G |
11: 82,873,158 (GRCm39) |
Y582H |
probably damaging |
Het |
| Tcirg1 |
A |
T |
19: 3,954,210 (GRCm39) |
|
probably benign |
Het |
| Trac |
G |
A |
14: 54,460,438 (GRCm39) |
|
probably benign |
Het |
| Wbp2nl |
G |
T |
15: 82,198,017 (GRCm39) |
V185L |
probably benign |
Het |
|
| Other mutations in Slco1a4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00976:Slco1a4
|
APN |
6 |
141,752,908 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01573:Slco1a4
|
APN |
6 |
141,758,577 (GRCm39) |
splice site |
probably benign |
|
|
IGL03115:Slco1a4
|
APN |
6 |
141,763,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03115:Slco1a4
|
APN |
6 |
141,765,329 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0062:Slco1a4
|
UTSW |
6 |
141,765,205 (GRCm39) |
nonsense |
probably null |
|
|
R0062:Slco1a4
|
UTSW |
6 |
141,765,205 (GRCm39) |
nonsense |
probably null |
|
|
R0305:Slco1a4
|
UTSW |
6 |
141,763,479 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0511:Slco1a4
|
UTSW |
6 |
141,776,586 (GRCm39) |
splice site |
probably benign |
|
|
R0660:Slco1a4
|
UTSW |
6 |
141,758,467 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0664:Slco1a4
|
UTSW |
6 |
141,758,467 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1589:Slco1a4
|
UTSW |
6 |
141,791,173 (GRCm39) |
missense |
probably benign |
|
|
R1606:Slco1a4
|
UTSW |
6 |
141,785,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1665:Slco1a4
|
UTSW |
6 |
141,785,303 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1742:Slco1a4
|
UTSW |
6 |
141,770,771 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1763:Slco1a4
|
UTSW |
6 |
141,758,457 (GRCm39) |
missense |
probably benign |
0.26 |
|
R1893:Slco1a4
|
UTSW |
6 |
141,780,342 (GRCm39) |
splice site |
probably null |
|
|
R1908:Slco1a4
|
UTSW |
6 |
141,761,173 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1944:Slco1a4
|
UTSW |
6 |
141,785,276 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2144:Slco1a4
|
UTSW |
6 |
141,755,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Slco1a4
|
UTSW |
6 |
141,761,308 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2340:Slco1a4
|
UTSW |
6 |
141,787,103 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3017:Slco1a4
|
UTSW |
6 |
141,758,396 (GRCm39) |
splice site |
probably null |
|
|
R3769:Slco1a4
|
UTSW |
6 |
141,785,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Slco1a4
|
UTSW |
6 |
141,765,266 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4650:Slco1a4
|
UTSW |
6 |
141,758,424 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4801:Slco1a4
|
UTSW |
6 |
141,791,223 (GRCm39) |
start gained |
probably benign |
|
|
R4802:Slco1a4
|
UTSW |
6 |
141,791,223 (GRCm39) |
start gained |
probably benign |
|
|
R4896:Slco1a4
|
UTSW |
6 |
141,761,231 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5126:Slco1a4
|
UTSW |
6 |
141,761,308 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5183:Slco1a4
|
UTSW |
6 |
141,785,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Slco1a4
|
UTSW |
6 |
141,776,433 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5645:Slco1a4
|
UTSW |
6 |
141,780,385 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5650:Slco1a4
|
UTSW |
6 |
141,755,120 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5832:Slco1a4
|
UTSW |
6 |
141,765,270 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6180:Slco1a4
|
UTSW |
6 |
141,763,546 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6415:Slco1a4
|
UTSW |
6 |
141,780,415 (GRCm39) |
nonsense |
probably null |
|
|
R6992:Slco1a4
|
UTSW |
6 |
141,765,330 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7024:Slco1a4
|
UTSW |
6 |
141,780,434 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7696:Slco1a4
|
UTSW |
6 |
141,756,237 (GRCm39) |
nonsense |
probably null |
|
|
R7751:Slco1a4
|
UTSW |
6 |
141,780,413 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8743:Slco1a4
|
UTSW |
6 |
141,765,255 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9173:Slco1a4
|
UTSW |
6 |
141,761,299 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2014-01-21 |
Incidental Mutation