Incidental Mutation 'IGL02228:Slc22a3'
| ID |
285399 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc22a3
|
| Ensembl Gene |
ENSMUSG00000023828 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 3 |
| Synonyms |
EMT, Oct3, Orct3 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02228
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
12638859-12726591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 12678697 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 209
(L209P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024595]
|
| AlphaFold |
Q9WTW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024595
AA Change: L209P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000024595
Gene: ENSMUSG00000023828
AA Change: L209P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:Sugar_tr
|
105 |
526 |
1.2e-28 |
PFAM |
|
Pfam:MFS_1
|
144 |
395 |
3.3e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased susceptibility to paraquat-induced dopamine neuron neurotoxicity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
T |
C |
12: 84,063,738 (GRCm39) |
V282A |
probably benign |
Het |
| Acsm5 |
A |
G |
7: 119,131,089 (GRCm39) |
D169G |
probably damaging |
Het |
| Adam8 |
C |
T |
7: 139,568,719 (GRCm39) |
|
probably null |
Het |
| Agpat1 |
T |
C |
17: 34,829,536 (GRCm39) |
F37L |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 31,994,114 (GRCm39) |
D410E |
probably benign |
Het |
| Atg2a |
T |
A |
19: 6,296,830 (GRCm39) |
V378D |
probably benign |
Het |
| Atp1a4 |
T |
C |
1: 172,082,452 (GRCm39) |
Y130C |
possibly damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,313 (GRCm39) |
H419R |
possibly damaging |
Het |
| Capza3 |
A |
G |
6: 139,987,641 (GRCm39) |
D80G |
probably benign |
Het |
| Col6a4 |
C |
T |
9: 105,945,277 (GRCm39) |
D946N |
probably benign |
Het |
| Crat |
T |
C |
2: 30,303,194 (GRCm39) |
H31R |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,176,790 (GRCm39) |
V419A |
probably damaging |
Het |
| Ebf1 |
T |
C |
11: 44,863,739 (GRCm39) |
V363A |
probably damaging |
Het |
| Lcp2 |
T |
C |
11: 33,997,424 (GRCm39) |
F24S |
probably damaging |
Het |
| Lgmn |
G |
A |
12: 102,361,973 (GRCm39) |
T376I |
probably benign |
Het |
| Lrrc8d |
C |
T |
5: 105,959,730 (GRCm39) |
L47F |
probably benign |
Het |
| Mier1 |
T |
A |
4: 102,988,259 (GRCm39) |
M44K |
possibly damaging |
Het |
| Ogfod1 |
C |
A |
8: 94,789,615 (GRCm39) |
Q439K |
probably benign |
Het |
| Or6aa1 |
A |
C |
7: 86,044,286 (GRCm39) |
I140S |
possibly damaging |
Het |
| Pcgf6 |
A |
C |
19: 47,036,421 (GRCm39) |
F216C |
probably damaging |
Het |
| Pcnt |
C |
T |
10: 76,225,308 (GRCm39) |
R1732K |
probably benign |
Het |
| Pramel17 |
T |
C |
4: 101,694,055 (GRCm39) |
Y276C |
probably benign |
Het |
| Pramel31 |
A |
G |
4: 144,089,231 (GRCm39) |
K183R |
probably damaging |
Het |
| Rbbp4 |
A |
T |
4: 129,211,543 (GRCm39) |
H370Q |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,109,729 (GRCm39) |
V3127A |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,060,355 (GRCm39) |
V1019E |
probably damaging |
Het |
| Serpina9 |
C |
T |
12: 103,974,859 (GRCm39) |
R98Q |
probably benign |
Het |
| Slc16a7 |
C |
A |
10: 125,066,667 (GRCm39) |
G324V |
probably damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,513 (GRCm39) |
T1695S |
probably damaging |
Het |
| Tulp3 |
G |
A |
6: 128,311,448 (GRCm39) |
T74M |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 58,938,144 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
A |
T |
4: 25,281,686 (GRCm39) |
S23T |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,647,587 (GRCm39) |
E1509G |
possibly damaging |
Het |
| Wnk2 |
A |
T |
13: 49,210,416 (GRCm39) |
I1801N |
probably damaging |
Het |
|
| Other mutations in Slc22a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00960:Slc22a3
|
APN |
17 |
12,644,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01343:Slc22a3
|
APN |
17 |
12,644,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Slc22a3
|
APN |
17 |
12,677,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0466:Slc22a3
|
UTSW |
17 |
12,677,380 (GRCm39) |
nonsense |
probably null |
|
|
R1501:Slc22a3
|
UTSW |
17 |
12,725,991 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1688:Slc22a3
|
UTSW |
17 |
12,652,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3030:Slc22a3
|
UTSW |
17 |
12,676,521 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4604:Slc22a3
|
UTSW |
17 |
12,678,658 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4754:Slc22a3
|
UTSW |
17 |
12,726,082 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4796:Slc22a3
|
UTSW |
17 |
12,642,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4865:Slc22a3
|
UTSW |
17 |
12,683,419 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5433:Slc22a3
|
UTSW |
17 |
12,677,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5483:Slc22a3
|
UTSW |
17 |
12,683,354 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5719:Slc22a3
|
UTSW |
17 |
12,642,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5750:Slc22a3
|
UTSW |
17 |
12,652,395 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5872:Slc22a3
|
UTSW |
17 |
12,652,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5988:Slc22a3
|
UTSW |
17 |
12,652,782 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6197:Slc22a3
|
UTSW |
17 |
12,677,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7155:Slc22a3
|
UTSW |
17 |
12,652,518 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7764:Slc22a3
|
UTSW |
17 |
12,677,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7775:Slc22a3
|
UTSW |
17 |
12,683,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7824:Slc22a3
|
UTSW |
17 |
12,683,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8098:Slc22a3
|
UTSW |
17 |
12,642,619 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8407:Slc22a3
|
UTSW |
17 |
12,640,368 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9135:Slc22a3
|
UTSW |
17 |
12,645,619 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9251:Slc22a3
|
UTSW |
17 |
12,726,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9515:Slc22a3
|
UTSW |
17 |
12,726,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0027:Slc22a3
|
UTSW |
17 |
12,677,358 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
Z1088:Slc22a3
|
UTSW |
17 |
12,644,568 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Slc22a3
|
UTSW |
17 |
12,726,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc22a3
|
UTSW |
17 |
12,726,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc22a3
|
UTSW |
17 |
12,725,945 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation