Incidental Mutation 'IGL00976:Slco1a4'
ID |
27708 |
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 # |
IGL00976
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
141751166-141801925 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to C
at 141752908 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032364]
[ENSMUST00000165990]
|
AlphaFold |
Q9EP96 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032364
|
SMART Domains |
Protein: ENSMUSP00000032364 Gene: ENSMUSG00000030237
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 null
Transcript: ENSMUST00000165990
|
SMART Domains |
Protein: ENSMUSP00000130746 Gene: ENSMUSG00000030237
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930519F16Rik |
A |
G |
X: 102,226,868 (GRCm39) |
|
probably benign |
Het |
Aldob |
C |
A |
4: 49,541,220 (GRCm39) |
V151L |
probably damaging |
Het |
Cacna1i |
G |
A |
15: 80,239,846 (GRCm39) |
M298I |
probably benign |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccdc186 |
G |
A |
19: 56,785,932 (GRCm39) |
T701M |
probably damaging |
Het |
Ccdc190 |
A |
T |
1: 169,761,309 (GRCm39) |
H137L |
probably benign |
Het |
Clhc1 |
G |
A |
11: 29,511,389 (GRCm39) |
D278N |
probably benign |
Het |
Cntnap3 |
T |
C |
13: 64,942,166 (GRCm39) |
Y188C |
probably damaging |
Het |
Dnah1 |
A |
C |
14: 31,000,095 (GRCm39) |
V2466G |
probably damaging |
Het |
Dnah8 |
A |
G |
17: 31,070,684 (GRCm39) |
T4457A |
probably damaging |
Het |
Hectd4 |
A |
G |
5: 121,487,169 (GRCm39) |
Q3388R |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,493,557 (GRCm39) |
D316V |
probably damaging |
Het |
Il1rap |
T |
C |
16: 26,517,589 (GRCm39) |
V263A |
probably benign |
Het |
Il6 |
G |
A |
5: 30,219,839 (GRCm39) |
G72S |
probably benign |
Het |
Katnal2 |
T |
C |
18: 77,105,189 (GRCm39) |
Y86C |
probably damaging |
Het |
Kdm7a |
G |
T |
6: 39,121,332 (GRCm39) |
S874R |
possibly damaging |
Het |
Mybpc2 |
T |
C |
7: 44,171,741 (GRCm39) |
|
probably null |
Het |
Nphs1 |
T |
G |
7: 30,160,110 (GRCm39) |
S130A |
possibly damaging |
Het |
Ntrk3 |
C |
T |
7: 78,100,701 (GRCm39) |
V444I |
probably benign |
Het |
Numbl |
T |
C |
7: 26,968,235 (GRCm39) |
V144A |
possibly damaging |
Het |
Or8g33 |
T |
A |
9: 39,337,953 (GRCm39) |
Y138F |
probably benign |
Het |
P2rx1 |
T |
C |
11: 72,903,826 (GRCm39) |
|
probably null |
Het |
Pcdhb3 |
G |
A |
18: 37,436,001 (GRCm39) |
V656I |
probably benign |
Het |
Pole |
A |
G |
5: 110,471,438 (GRCm39) |
Y1394C |
probably benign |
Het |
Pramel24 |
T |
A |
4: 143,453,585 (GRCm39) |
M231K |
probably damaging |
Het |
Rbm47 |
A |
G |
5: 66,184,081 (GRCm39) |
V174A |
possibly damaging |
Het |
Rhox4f |
T |
C |
X: 36,786,048 (GRCm39) |
|
probably benign |
Het |
Serpina12 |
T |
C |
12: 103,998,787 (GRCm39) |
Y317C |
probably damaging |
Het |
Slc12a5 |
T |
A |
2: 164,821,224 (GRCm39) |
I236N |
probably damaging |
Het |
Slc4a4 |
G |
A |
5: 89,102,657 (GRCm39) |
G32R |
probably damaging |
Het |
Sorcs3 |
A |
T |
19: 48,755,542 (GRCm39) |
N894I |
probably damaging |
Het |
Stk38l |
A |
G |
6: 146,676,900 (GRCm39) |
E393G |
probably benign |
Het |
Synpo |
A |
G |
18: 60,736,491 (GRCm39) |
I485T |
possibly damaging |
Het |
Tenm3 |
T |
A |
8: 48,709,876 (GRCm39) |
M1687L |
probably benign |
Het |
Ttc39c |
T |
C |
18: 12,817,952 (GRCm39) |
|
probably benign |
Het |
Unc13d |
T |
C |
11: 115,961,293 (GRCm39) |
E378G |
probably damaging |
Het |
Vmn2r118 |
T |
A |
17: 55,900,204 (GRCm39) |
N567Y |
probably damaging |
Het |
|
Other mutations in Slco1a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01573:Slco1a4
|
APN |
6 |
141,758,577 (GRCm39) |
splice site |
probably benign |
|
IGL01735:Slco1a4
|
APN |
6 |
141,763,477 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2013-04-17 |