Incidental Mutation 'IGL03115:Slco1a4'
ID |
419363 |
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: 0.062)
|
Stock # |
IGL03115
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
141751166-141801925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 141763585 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Arginine
at position 377
(M377R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032364]
[ENSMUST00000165990]
|
AlphaFold |
Q9EP96 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032364
AA Change: M377R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032364 Gene: ENSMUSG00000030237 AA Change: M377R
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 damaging
Transcript: ENSMUST00000165990
AA Change: M377R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130746 Gene: ENSMUSG00000030237 AA Change: M377R
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
T |
A |
14: 68,808,802 (GRCm39) |
H302L |
probably damaging |
Het |
Adamts12 |
T |
A |
15: 11,263,422 (GRCm39) |
C595S |
probably damaging |
Het |
Arid2 |
G |
A |
15: 96,268,154 (GRCm39) |
V756I |
probably damaging |
Het |
Asah1 |
A |
T |
8: 41,813,336 (GRCm39) |
W26R |
possibly damaging |
Het |
Brinp1 |
C |
T |
4: 68,822,973 (GRCm39) |
|
probably null |
Het |
Cers2 |
A |
G |
3: 95,228,663 (GRCm39) |
D162G |
probably damaging |
Het |
Clasp1 |
G |
T |
1: 118,429,053 (GRCm39) |
E106* |
probably null |
Het |
Col12a1 |
T |
C |
9: 79,588,719 (GRCm39) |
E1132G |
probably damaging |
Het |
Dhdds |
G |
T |
4: 133,710,182 (GRCm39) |
H196N |
probably benign |
Het |
Eps8 |
T |
C |
6: 137,504,379 (GRCm39) |
D118G |
probably damaging |
Het |
Fmo9 |
A |
G |
1: 166,505,220 (GRCm39) |
S7P |
probably damaging |
Het |
Gamt |
A |
G |
10: 80,094,272 (GRCm39) |
L197P |
probably damaging |
Het |
Grb7 |
A |
G |
11: 98,341,945 (GRCm39) |
I82V |
probably damaging |
Het |
Hectd2 |
T |
C |
19: 36,577,121 (GRCm39) |
|
probably null |
Het |
Ilk |
T |
C |
7: 105,389,542 (GRCm39) |
V83A |
probably damaging |
Het |
Kif21a |
T |
A |
15: 90,869,598 (GRCm39) |
I418F |
probably damaging |
Het |
Kndc1 |
A |
G |
7: 139,501,425 (GRCm39) |
I905V |
probably benign |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Morc3 |
T |
C |
16: 93,667,971 (GRCm39) |
I710T |
probably damaging |
Het |
Nefm |
T |
C |
14: 68,357,728 (GRCm39) |
|
probably benign |
Het |
Or10d5 |
T |
C |
9: 39,862,040 (GRCm39) |
E9G |
probably damaging |
Het |
Or2f2 |
A |
G |
6: 42,767,599 (GRCm39) |
T209A |
probably benign |
Het |
Or8g23 |
C |
A |
9: 38,971,259 (GRCm39) |
R234S |
probably damaging |
Het |
Pard6g |
T |
G |
18: 80,123,068 (GRCm39) |
L34W |
probably damaging |
Het |
Patj |
C |
T |
4: 98,332,040 (GRCm39) |
S562L |
probably damaging |
Het |
Pcsk4 |
A |
G |
10: 80,164,883 (GRCm39) |
I61T |
probably damaging |
Het |
Pcsk7 |
T |
A |
9: 45,825,670 (GRCm39) |
H300Q |
probably damaging |
Het |
Pip5kl1 |
A |
G |
2: 32,470,033 (GRCm39) |
D288G |
probably damaging |
Het |
Plxnb2 |
T |
A |
15: 89,046,641 (GRCm39) |
|
probably benign |
Het |
Poldip2 |
T |
C |
11: 78,411,970 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
T |
C |
2: 146,266,734 (GRCm39) |
Y614C |
probably damaging |
Het |
Rarres1 |
C |
A |
3: 67,403,145 (GRCm39) |
|
probably null |
Het |
Samd3 |
C |
T |
10: 26,147,606 (GRCm39) |
T427M |
probably damaging |
Het |
Skap1 |
A |
G |
11: 96,593,446 (GRCm39) |
I98V |
probably benign |
Het |
Skint11 |
T |
C |
4: 114,101,820 (GRCm39) |
S87P |
probably damaging |
Het |
Slc22a22 |
T |
G |
15: 57,126,670 (GRCm39) |
E133A |
probably damaging |
Het |
Slc23a2 |
T |
C |
2: 131,933,185 (GRCm39) |
Y91C |
probably damaging |
Het |
Slc6a20b |
T |
A |
9: 123,426,403 (GRCm39) |
E494V |
possibly damaging |
Het |
Srpk2 |
T |
C |
5: 23,729,616 (GRCm39) |
|
probably null |
Het |
Supt3 |
T |
G |
17: 45,352,114 (GRCm39) |
C271W |
probably damaging |
Het |
Taar7d |
C |
A |
10: 23,903,539 (GRCm39) |
F140L |
probably benign |
Het |
Tmbim7 |
T |
C |
5: 3,729,158 (GRCm39) |
*225Q |
probably null |
Het |
Tpst1 |
T |
C |
5: 130,130,752 (GRCm39) |
I74T |
probably damaging |
Het |
Utp3 |
T |
C |
5: 88,703,179 (GRCm39) |
V236A |
possibly damaging |
Het |
Vmn2r55 |
A |
T |
7: 12,404,558 (GRCm39) |
F282I |
probably damaging |
Het |
Vwa5b1 |
A |
T |
4: 138,327,460 (GRCm39) |
I372N |
possibly damaging |
Het |
Wtip |
C |
T |
7: 33,824,958 (GRCm39) |
A209T |
probably damaging |
Het |
Zbbx |
T |
C |
3: 74,985,867 (GRCm39) |
D395G |
probably benign |
Het |
Zfp273 |
A |
T |
13: 67,973,769 (GRCm39) |
H299L |
probably damaging |
Het |
Zfp459 |
G |
A |
13: 67,556,796 (GRCm39) |
R96* |
probably null |
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 |
|
IGL01735:Slco1a4
|
APN |
6 |
141,763,477 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
2016-08-02 |