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 |
Incidental Mutation