Incidental Mutation 'R3769:Slco1a4'
ID |
273164 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slco1a4
|
Ensembl Gene |
ENSMUSG00000030237 |
Gene Name |
solute carrier organic anion transporter family, member 1a4 |
Synonyms |
Oatp2, Oatp1a4, Slc21a5 |
MMRRC Submission |
040746-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.091)
|
Stock # |
R3769 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
141751166-141801925 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 141785357 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 78
(Y78H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130746
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032364]
[ENSMUST00000163678]
[ENSMUST00000165990]
|
AlphaFold |
Q9EP96 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032364
AA Change: Y78H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032364 Gene: ENSMUSG00000030237 AA Change: Y78H
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: ENSMUST00000163678
AA Change: Y78H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000126767 Gene: ENSMUSG00000030237 AA Change: Y78H
Domain | Start | End | E-Value | Type |
Pfam:OATP
|
19 |
139 |
1.5e-46 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165990
AA Change: Y78H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130746 Gene: ENSMUSG00000030237 AA Change: Y78H
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 |
|
Meta Mutation Damage Score |
0.3395 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
Validation Efficiency |
98% (47/48) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9a |
G |
C |
15: 77,288,596 (GRCm39) |
T257S |
probably benign |
Het |
Arhgap23 |
A |
T |
11: 97,366,932 (GRCm39) |
D1071V |
probably damaging |
Het |
C3 |
C |
T |
17: 57,512,303 (GRCm39) |
D1542N |
possibly damaging |
Het |
Ccer1 |
G |
A |
10: 97,530,414 (GRCm39) |
G359E |
probably damaging |
Het |
Cdkal1 |
T |
C |
13: 29,736,386 (GRCm39) |
|
probably null |
Het |
Celf1 |
T |
C |
2: 90,828,993 (GRCm39) |
V20A |
probably damaging |
Het |
Cep350 |
G |
A |
1: 155,828,950 (GRCm39) |
T318I |
probably damaging |
Het |
Chn2 |
A |
G |
6: 54,267,396 (GRCm39) |
D159G |
probably damaging |
Het |
Chst5 |
T |
A |
8: 112,616,513 (GRCm39) |
D369V |
possibly damaging |
Het |
Cmya5 |
A |
T |
13: 93,233,201 (GRCm39) |
I629K |
possibly damaging |
Het |
Cplx4 |
T |
C |
18: 66,102,998 (GRCm39) |
T41A |
probably benign |
Het |
Ddx3x |
T |
C |
X: 13,156,808 (GRCm39) |
|
probably benign |
Het |
Dock7 |
T |
C |
4: 98,859,066 (GRCm39) |
T1409A |
probably benign |
Het |
Dpy19l4 |
T |
C |
4: 11,276,868 (GRCm39) |
|
probably null |
Het |
Fgf10 |
G |
T |
13: 118,918,083 (GRCm39) |
V124F |
probably damaging |
Het |
Gm6356 |
C |
A |
14: 6,971,774 (GRCm38) |
M120I |
probably benign |
Het |
Gm7964 |
T |
A |
7: 83,405,338 (GRCm39) |
V76D |
probably damaging |
Het |
Gm826 |
A |
G |
2: 160,169,165 (GRCm39) |
V48A |
unknown |
Het |
Hoxb5 |
A |
G |
11: 96,194,795 (GRCm39) |
D119G |
possibly damaging |
Het |
Ifna7 |
T |
C |
4: 88,734,964 (GRCm39) |
V167A |
probably damaging |
Het |
Itgb2 |
T |
C |
10: 77,385,802 (GRCm39) |
V255A |
possibly damaging |
Het |
Klf3 |
A |
G |
5: 64,984,560 (GRCm39) |
|
probably null |
Het |
Mgl2 |
T |
C |
11: 70,026,659 (GRCm39) |
L128P |
probably damaging |
Het |
Or1ad6 |
A |
G |
11: 50,860,385 (GRCm39) |
D180G |
probably damaging |
Het |
Pdia6 |
T |
C |
12: 17,320,457 (GRCm39) |
V32A |
probably damaging |
Het |
Pex6 |
G |
T |
17: 47,035,311 (GRCm39) |
|
probably null |
Het |
Pla2g5 |
C |
G |
4: 138,528,746 (GRCm39) |
C70S |
probably damaging |
Het |
Pole4 |
G |
A |
6: 82,599,095 (GRCm39) |
R119C |
possibly damaging |
Het |
Polr2c |
G |
A |
8: 95,586,928 (GRCm39) |
A65T |
probably damaging |
Het |
Ptpru |
C |
T |
4: 131,535,735 (GRCm39) |
C414Y |
probably damaging |
Het |
Rhot2 |
T |
C |
17: 26,059,521 (GRCm39) |
D407G |
probably benign |
Het |
Scn5a |
G |
A |
9: 119,381,142 (GRCm39) |
|
probably benign |
Het |
Sh3rf3 |
A |
G |
10: 58,820,013 (GRCm39) |
T275A |
probably benign |
Het |
Slc27a2 |
A |
G |
2: 126,409,718 (GRCm39) |
D300G |
possibly damaging |
Het |
Slc35e1 |
A |
T |
8: 73,245,714 (GRCm39) |
I155N |
possibly damaging |
Het |
Snx15 |
T |
A |
19: 6,173,984 (GRCm39) |
|
probably benign |
Het |
Top1 |
A |
T |
2: 160,563,442 (GRCm39) |
I758F |
probably damaging |
Het |
U2surp |
A |
G |
9: 95,375,750 (GRCm39) |
|
probably benign |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Ulk4 |
A |
G |
9: 121,092,766 (GRCm39) |
V157A |
probably benign |
Het |
Urgcp |
T |
C |
11: 5,667,000 (GRCm39) |
Y446C |
probably damaging |
Het |
Vps51 |
T |
C |
19: 6,126,378 (GRCm39) |
T125A |
possibly damaging |
Het |
Ypel1 |
T |
C |
16: 16,927,532 (GRCm39) |
H20R |
probably benign |
Het |
Zfp458 |
T |
A |
13: 67,405,546 (GRCm39) |
I298F |
probably damaging |
Het |
Zfp747l1 |
A |
G |
7: 126,984,035 (GRCm39) |
|
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGAGCCTCATTTCCTGTAGG -3'
(R):5'- TGTGGTGGTGAAACAATGAACC -3'
Sequencing Primer
(F):5'- AGCCTCATTTCCTGTAGGTGAAAG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2015-03-25 |