Incidental Mutation 'R4360:Slc18a3'
| ID |
324870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slc18a3
|
| Ensembl Gene |
ENSMUSG00000100241 |
| Gene Name |
solute carrier family 18 (vesicular monoamine), member 3 |
| Synonyms |
VAT, VAChT |
| MMRRC Submission |
041111-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.317)
|
| Stock # |
R4360 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
32184395-32186807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32185882 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 167
(V167A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070125]
[ENSMUST00000191501]
[ENSMUST00000226351]
[ENSMUST00000226365]
[ENSMUST00000227579]
[ENSMUST00000228420]
[ENSMUST00000228511]
[ENSMUST00000228256]
|
| 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
AA Change: V167A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139829
Gene: ENSMUSG00000100241
AA Change: V167A
| 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 |
noncoding transcript
Transcript: ENSMUST00000228806
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228420
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228256
|
| Meta Mutation Damage Score |
0.0608 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (50/50) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I07Rik |
T |
C |
14: 67,175,850 (GRCm39) |
|
noncoding transcript |
Het |
| Adgra3 |
T |
C |
5: 50,147,552 (GRCm39) |
E496G |
possibly damaging |
Het |
| Atg14 |
C |
G |
14: 47,805,827 (GRCm39) |
E13Q |
probably benign |
Het |
| BC023105 |
G |
T |
18: 60,575,073 (GRCm39) |
|
noncoding transcript |
Het |
| Chd6 |
A |
G |
2: 160,791,776 (GRCm39) |
V2527A |
possibly damaging |
Het |
| Csn1s2a |
G |
T |
5: 87,929,700 (GRCm39) |
V100L |
possibly damaging |
Het |
| Fah |
G |
A |
7: 84,238,856 (GRCm39) |
L330F |
probably damaging |
Het |
| Fmo2 |
T |
C |
1: 162,709,583 (GRCm39) |
N268S |
probably damaging |
Het |
| Foxg1 |
CCAGCAGCAGCAGCAGCAGC |
CCAGCAGCAGCAGCAGC |
12: 49,431,475 (GRCm39) |
|
probably benign |
Het |
| Frmd4a |
A |
T |
2: 4,606,052 (GRCm39) |
H287L |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,410,197 (GRCm39) |
|
probably benign |
Het |
| Gm1758 |
A |
T |
16: 14,324,215 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7204 |
T |
C |
16: 48,039,196 (GRCm39) |
|
noncoding transcript |
Het |
| Gm829 |
T |
C |
4: 45,718,819 (GRCm39) |
|
noncoding transcript |
Het |
| Hspa14 |
A |
G |
2: 3,503,560 (GRCm39) |
V116A |
possibly damaging |
Het |
| Hspa4 |
T |
C |
11: 53,155,919 (GRCm39) |
Y662C |
probably damaging |
Het |
| Islr |
T |
A |
9: 58,064,887 (GRCm39) |
N207Y |
probably damaging |
Het |
| Lipc |
T |
C |
9: 70,759,864 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,106,036 (GRCm39) |
S1546P |
probably damaging |
Het |
| Or13a25 |
T |
C |
7: 140,247,730 (GRCm39) |
F170L |
probably damaging |
Het |
| Or56a3 |
A |
C |
7: 104,735,460 (GRCm39) |
E179A |
probably damaging |
Het |
| Or7g18 |
G |
A |
9: 18,787,013 (GRCm39) |
C127Y |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,866,661 (GRCm39) |
D1075G |
possibly damaging |
Het |
| Pkp2 |
A |
G |
16: 16,086,546 (GRCm39) |
I736V |
probably benign |
Het |
| Plekha8 |
T |
C |
6: 54,599,171 (GRCm39) |
I235T |
probably benign |
Het |
| Polq |
A |
G |
16: 36,880,701 (GRCm39) |
D955G |
probably benign |
Het |
| Pramel16 |
A |
G |
4: 143,677,433 (GRCm39) |
F49L |
possibly damaging |
Het |
| Psmd1 |
A |
G |
1: 86,061,459 (GRCm39) |
K890E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Scpep1 |
A |
G |
11: 88,821,070 (GRCm39) |
Y366H |
possibly damaging |
Het |
| Sp8 |
A |
G |
12: 118,812,400 (GRCm39) |
D85G |
possibly damaging |
Het |
| Stard3nl |
G |
A |
13: 19,554,654 (GRCm39) |
S144L |
probably damaging |
Het |
| Stk4 |
A |
G |
2: 163,930,879 (GRCm39) |
E160G |
possibly damaging |
Het |
| Tbcb |
T |
C |
7: 29,926,460 (GRCm39) |
N119S |
probably benign |
Het |
| Tnc |
G |
T |
4: 63,935,161 (GRCm39) |
R592S |
probably benign |
Het |
| Trem3 |
T |
A |
17: 48,556,801 (GRCm39) |
S91T |
probably benign |
Het |
| Trpc6 |
A |
G |
9: 8,610,267 (GRCm39) |
E245G |
probably benign |
Het |
| Usp40 |
C |
T |
1: 87,880,083 (GRCm39) |
R1036H |
probably damaging |
Het |
| Usp47 |
G |
T |
7: 111,654,139 (GRCm39) |
G112C |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,024,149 (GRCm39) |
|
probably benign |
Het |
| Zc3h14 |
A |
G |
12: 98,746,456 (GRCm39) |
K555R |
probably benign |
Het |
| Zfp26 |
T |
C |
9: 20,349,869 (GRCm39) |
S232G |
probably benign |
Het |
| Zfp811 |
T |
C |
17: 33,017,432 (GRCm39) |
T202A |
probably benign |
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 |
|
IGL03336:Slc18a3
|
APN |
14 |
32,184,785 (GRCm39) |
intron |
probably benign |
|
|
R3153:Slc18a3
|
UTSW |
14 |
32,185,228 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGCTGATGAAGGCTAGCG -3'
(R):5'- TAATGCCAGCGCCTACTTGG -3'
Sequencing Primer
(F):5'- GATACTTGTCGGCGATCA -3'
(R):5'- TACTTGGCCAACACCTCGG -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation