Incidental Mutation 'IGL03336:Slc18a3'
ID |
417056 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Slc18a3
|
Ensembl Gene |
ENSMUSG00000100241 |
Gene Name |
solute carrier family 18 (vesicular monoamine), member 3 |
Synonyms |
VAT, VAChT |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.317)
|
Stock # |
IGL03336
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
32184395-32186807 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 32184785 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153837
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070125]
[ENSMUST00000191501]
[ENSMUST00000226351]
[ENSMUST00000226365]
[ENSMUST00000227579]
[ENSMUST00000228256]
[ENSMUST00000228511]
[ENSMUST00000228420]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000070125
|
SMART Domains |
Protein: ENSMUSP00000070865 Gene: ENSMUSG00000021919
Domain | Start | End | E-Value | Type |
Pfam:Carn_acyltransf
|
24 |
612 |
5.5e-190 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180662
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191501
|
SMART Domains |
Protein: ENSMUSP00000139829 Gene: ENSMUSG00000100241
Domain | Start | End | E-Value | Type |
Pfam:MFS_1
|
35 |
415 |
3.1e-32 |
PFAM |
Pfam:Sugar_tr
|
83 |
268 |
3.3e-8 |
PFAM |
transmembrane domain
|
416 |
438 |
N/A |
INTRINSIC |
transmembrane domain
|
453 |
475 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226351
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000226365
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000227579
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227675
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228256
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228511
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228806
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000228420
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the vesicular amine transporter family. The encoded transmembrane protein transports acetylcholine into secretory vesicles for release into the extracellular space. Acetylcholine transport utilizes a proton gradient established by a vacuolar ATPase. This gene is located within the first intron of the choline acetyltransferase gene. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele exhibit decreased acetylcholine release, grip strength, coordination, exercise endurance, and social recognition memory. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
A |
G |
15: 59,888,251 (GRCm39) |
V63A |
probably benign |
Het |
Ankrd11 |
A |
G |
8: 123,618,582 (GRCm39) |
S1757P |
probably benign |
Het |
Atp8a1 |
G |
T |
5: 67,887,150 (GRCm39) |
Y629* |
probably null |
Het |
Cenpf |
T |
C |
1: 189,384,844 (GRCm39) |
K2479E |
probably damaging |
Het |
Clip1 |
G |
T |
5: 123,791,633 (GRCm39) |
S179* |
probably null |
Het |
Cmya5 |
A |
G |
13: 93,230,013 (GRCm39) |
S1692P |
possibly damaging |
Het |
Cyp17a1 |
T |
C |
19: 46,659,474 (GRCm39) |
S119G |
probably benign |
Het |
Fndc5 |
T |
C |
4: 129,033,711 (GRCm39) |
F160L |
probably benign |
Het |
Muc5b |
T |
C |
7: 141,418,100 (GRCm39) |
V3682A |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,175,528 (GRCm39) |
D328Y |
probably damaging |
Het |
Or10a5 |
T |
A |
7: 106,635,542 (GRCm39) |
M60K |
probably damaging |
Het |
Or4c121 |
T |
C |
2: 89,024,241 (GRCm39) |
T46A |
probably benign |
Het |
Or51f1 |
C |
T |
7: 102,505,823 (GRCm39) |
C222Y |
probably benign |
Het |
Or51k2 |
T |
C |
7: 103,596,616 (GRCm39) |
L281P |
probably damaging |
Het |
Or6c203 |
T |
C |
10: 129,010,098 (GRCm39) |
E264G |
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,831,060 (GRCm39) |
I439V |
probably benign |
Het |
Pcdhb3 |
T |
C |
18: 37,436,014 (GRCm39) |
V660A |
possibly damaging |
Het |
Pcyt2 |
T |
C |
11: 120,506,758 (GRCm39) |
D32G |
probably damaging |
Het |
Pdzph1 |
A |
T |
17: 59,281,229 (GRCm39) |
V351D |
probably benign |
Het |
Ribc2 |
C |
T |
15: 85,017,114 (GRCm39) |
Q51* |
probably null |
Het |
Scn2a |
A |
G |
2: 65,519,088 (GRCm39) |
E438G |
probably damaging |
Het |
Slc5a1 |
G |
A |
5: 33,304,287 (GRCm39) |
V296I |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,560,928 (GRCm39) |
T958S |
probably damaging |
Het |
Spag8 |
C |
T |
4: 43,652,114 (GRCm39) |
|
probably benign |
Het |
Susd3 |
A |
C |
13: 49,392,258 (GRCm39) |
S144R |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,907,828 (GRCm39) |
E496G |
possibly damaging |
Het |
Tbcel |
T |
C |
9: 42,350,427 (GRCm39) |
T269A |
probably benign |
Het |
Tmem156 |
A |
G |
5: 65,233,107 (GRCm39) |
Y152H |
probably benign |
Het |
Tmem247 |
A |
G |
17: 87,225,857 (GRCm39) |
E99G |
probably damaging |
Het |
Tuba3b |
A |
G |
6: 145,565,450 (GRCm39) |
D306G |
possibly damaging |
Het |
Vps13c |
T |
A |
9: 67,858,924 (GRCm39) |
D2791E |
possibly damaging |
Het |
Ypel4 |
A |
G |
2: 84,567,871 (GRCm39) |
Y98C |
probably damaging |
Het |
|
Other mutations in Slc18a3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02938:Slc18a3
|
APN |
14 |
32,185,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R3153:Slc18a3
|
UTSW |
14 |
32,185,228 (GRCm39) |
missense |
probably benign |
0.01 |
R4360:Slc18a3
|
UTSW |
14 |
32,185,882 (GRCm39) |
missense |
probably benign |
|
R5001:Slc18a3
|
UTSW |
14 |
32,185,736 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5257:Slc18a3
|
UTSW |
14 |
32,185,777 (GRCm39) |
missense |
probably damaging |
1.00 |
R5271:Slc18a3
|
UTSW |
14 |
32,185,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R5316:Slc18a3
|
UTSW |
14 |
32,184,814 (GRCm39) |
missense |
probably benign |
|
R5846:Slc18a3
|
UTSW |
14 |
32,185,880 (GRCm39) |
missense |
probably benign |
|
R6696:Slc18a3
|
UTSW |
14 |
32,186,270 (GRCm39) |
missense |
possibly damaging |
0.89 |
R9322:Slc18a3
|
UTSW |
14 |
32,185,282 (GRCm39) |
missense |
probably benign |
0.00 |
R9473:Slc18a3
|
UTSW |
14 |
32,185,913 (GRCm39) |
missense |
probably benign |
0.09 |
Z1176:Slc18a3
|
UTSW |
14 |
32,185,079 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Slc18a3
|
UTSW |
14 |
32,186,285 (GRCm39) |
missense |
probably benign |
0.12 |
|
Posted On |
2016-08-02 |