Incidental Mutation 'R3030:Slc22a3'
| ID |
264709 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc22a3
|
| Ensembl Gene |
ENSMUSG00000023828 |
| Gene Name |
solute carrier family 22 (organic cation transporter), member 3 |
| Synonyms |
EMT, Oct3, Orct3 |
| MMRRC Submission |
040546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3030 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
12638859-12726591 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 12676521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 291
(I291V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024595]
|
| AlphaFold |
Q9WTW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024595
AA Change: I291V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000024595
Gene: ENSMUSG00000023828
AA Change: I291V
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi3bp |
C |
T |
16: 56,477,682 (GRCm39) |
H1202Y |
possibly damaging |
Het |
| Acad8 |
G |
T |
9: 26,890,355 (GRCm39) |
H287N |
probably benign |
Het |
| Aimp2 |
T |
C |
5: 143,843,509 (GRCm39) |
Y27C |
probably damaging |
Het |
| Cd59a |
A |
T |
2: 103,941,160 (GRCm39) |
D46V |
probably benign |
Het |
| Cdh15 |
G |
A |
8: 123,588,763 (GRCm39) |
R279Q |
probably damaging |
Het |
| Cyp4f17 |
T |
C |
17: 32,725,950 (GRCm39) |
S28P |
possibly damaging |
Het |
| Dytn |
T |
A |
1: 63,672,678 (GRCm39) |
E575V |
probably benign |
Het |
| F11 |
A |
G |
8: 45,701,675 (GRCm39) |
S353P |
probably damaging |
Het |
| Fbln2 |
G |
A |
6: 91,210,697 (GRCm39) |
E214K |
probably damaging |
Het |
| H2-M11 |
C |
T |
17: 36,859,042 (GRCm39) |
T194I |
possibly damaging |
Het |
| Helb |
A |
T |
10: 119,925,487 (GRCm39) |
C963* |
probably null |
Het |
| Hspb1 |
C |
T |
5: 135,918,267 (GRCm39) |
Q205* |
probably null |
Het |
| Itpkc |
G |
A |
7: 26,911,733 (GRCm39) |
|
probably null |
Het |
| Kndc1 |
G |
T |
7: 139,481,123 (GRCm39) |
A70S |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,330,747 (GRCm39) |
R550C |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,591,184 (GRCm39) |
K199E |
possibly damaging |
Het |
| Plod3 |
G |
C |
5: 137,017,000 (GRCm39) |
A50P |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,573,215 (GRCm39) |
M705V |
probably benign |
Het |
| Smarca2 |
A |
C |
19: 26,729,429 (GRCm39) |
N100T |
possibly damaging |
Het |
| Tmem260 |
T |
C |
14: 48,722,458 (GRCm39) |
F331S |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,220,598 (GRCm39) |
Q2445R |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,062 (GRCm39) |
S235P |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,755,444 (GRCm39) |
T360A |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,402 (GRCm39) |
S236P |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACTAAAACTGGTCCAGGCC -3'
(R):5'- GACTGTAGGATTCCCTGATCTTG -3'
Sequencing Primer
(F):5'- CTAAAACTGGTCCAGGCCAATGTG -3'
(R):5'- GGATTCCCTGATCTTGCAAAAAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation