Incidental Mutation 'IGL00960:Slc22a3'
| ID |
29322 |
| 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 # |
IGL00960
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
12638859-12726591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 12644497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 496
(I496N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024595]
|
| AlphaFold |
Q9WTW5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000024595
AA Change: I496N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000024595
Gene: ENSMUSG00000023828
AA Change: I496N
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
C |
A |
17: 46,634,671 (GRCm39) |
R444L |
probably damaging |
Het |
| Baiap2 |
T |
A |
11: 119,890,118 (GRCm39) |
S460T |
possibly damaging |
Het |
| Cckar |
A |
G |
5: 53,858,634 (GRCm39) |
Y158H |
probably damaging |
Het |
| Cdk4 |
A |
G |
10: 126,900,166 (GRCm39) |
Y21C |
probably damaging |
Het |
| Entpd1 |
C |
T |
19: 40,699,714 (GRCm39) |
P42S |
probably benign |
Het |
| Epha8 |
A |
T |
4: 136,679,150 (GRCm39) |
|
probably null |
Het |
| Fastkd1 |
A |
T |
2: 69,524,997 (GRCm39) |
|
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,013,494 (GRCm39) |
D951G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnj5 |
T |
A |
9: 32,233,719 (GRCm39) |
T199S |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,181,866 (GRCm39) |
|
probably benign |
Het |
| Mycbp2 |
G |
T |
14: 103,466,820 (GRCm39) |
H1314Q |
possibly damaging |
Het |
| Ncapd2 |
A |
T |
6: 125,150,811 (GRCm39) |
S795T |
probably benign |
Het |
| Nf1 |
T |
C |
11: 79,335,947 (GRCm39) |
S1042P |
probably damaging |
Het |
| Nlgn1 |
C |
A |
3: 25,966,861 (GRCm39) |
L197F |
probably damaging |
Het |
| Nsun7 |
A |
G |
5: 66,446,846 (GRCm39) |
Y428C |
probably benign |
Het |
| Or10d5j |
A |
G |
9: 39,867,455 (GRCm39) |
Y259H |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,661,589 (GRCm39) |
D1453G |
probably benign |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,026 (GRCm39) |
I235F |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,725,234 (GRCm39) |
V1364A |
unknown |
Het |
| Polq |
T |
C |
16: 36,880,874 (GRCm39) |
S734P |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,954,864 (GRCm39) |
*290Q |
probably null |
Het |
| Slc5a8 |
T |
G |
10: 88,757,627 (GRCm39) |
I539S |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,270,376 (GRCm39) |
F1311L |
possibly damaging |
Het |
| Tex261 |
A |
T |
6: 83,752,650 (GRCm39) |
I19N |
possibly damaging |
Het |
| Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,582 (GRCm39) |
S799C |
probably damaging |
Het |
| Zar1 |
G |
A |
5: 72,734,628 (GRCm39) |
T197I |
probably damaging |
Het |
| Zfa-ps |
A |
G |
10: 52,420,043 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Slc22a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02228:Slc22a3
|
APN |
17 |
12,678,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-04-17 |
Incidental Mutation