Incidental Mutation 'R5316:Slc18a3'
| ID |
405847 |
| 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 |
042899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.329)
|
| Stock # |
R5316 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
32184395-32186807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32184814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 523
(D523G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139829
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070125]
[ENSMUST00000191501]
[ENSMUST00000226351]
[ENSMUST00000226365]
[ENSMUST00000227579]
[ENSMUST00000228511]
[ENSMUST00000228256]
[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
AA Change: D523G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139829
Gene: ENSMUSG00000100241
AA Change: D523G
| 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: ENSMUST00000228511
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228256
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228420
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
G |
A |
12: 113,455,013 (GRCm39) |
R610H |
probably damaging |
Het |
| Agap2 |
G |
A |
10: 126,918,296 (GRCm39) |
|
probably null |
Het |
| Apol10a |
A |
G |
15: 77,372,729 (GRCm39) |
T122A |
probably damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,895,750 (GRCm39) |
A458D |
possibly damaging |
Het |
| Cd80 |
C |
T |
16: 38,294,239 (GRCm39) |
Q41* |
probably null |
Het |
| Cmss1 |
T |
G |
16: 57,122,638 (GRCm39) |
K252T |
probably damaging |
Het |
| Cog2 |
A |
G |
8: 125,255,779 (GRCm39) |
D122G |
probably benign |
Het |
| Dsc3 |
T |
A |
18: 20,096,598 (GRCm39) |
D841V |
possibly damaging |
Het |
| Dst |
C |
A |
1: 34,262,929 (GRCm39) |
Q4549K |
probably damaging |
Het |
| Efcab3 |
A |
G |
11: 104,967,286 (GRCm39) |
I5275M |
possibly damaging |
Het |
| Epha6 |
A |
G |
16: 59,775,083 (GRCm39) |
L711P |
probably damaging |
Het |
| Gabrg2 |
T |
A |
11: 41,867,385 (GRCm39) |
N78I |
probably damaging |
Het |
| H1f1 |
C |
T |
13: 23,948,085 (GRCm39) |
|
probably benign |
Het |
| Htra3 |
T |
C |
5: 35,821,420 (GRCm39) |
D319G |
probably damaging |
Het |
| Jph1 |
T |
C |
1: 17,161,750 (GRCm39) |
Y304C |
probably damaging |
Het |
| Kat2a |
G |
T |
11: 100,602,996 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Klhl7 |
C |
T |
5: 24,332,748 (GRCm39) |
A102V |
probably benign |
Het |
| Lamb3 |
A |
G |
1: 193,012,501 (GRCm39) |
H426R |
probably benign |
Het |
| Lemd3 |
C |
A |
10: 120,788,161 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
A |
C |
10: 76,306,760 (GRCm39) |
D291A |
possibly damaging |
Het |
| Micos13 |
G |
A |
17: 56,916,649 (GRCm39) |
S7L |
possibly damaging |
Het |
| Mme |
C |
G |
3: 63,276,375 (GRCm39) |
F717L |
probably damaging |
Het |
| Mybpc2 |
T |
A |
7: 44,169,806 (GRCm39) |
K171* |
probably null |
Het |
| Naip6 |
T |
C |
13: 100,420,290 (GRCm39) |
N1327D |
probably benign |
Het |
| Nr2e1 |
A |
T |
10: 42,447,487 (GRCm39) |
M175K |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,622,981 (GRCm39) |
V198D |
possibly damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Ppef2 |
A |
T |
5: 92,383,670 (GRCm39) |
M480K |
probably benign |
Het |
| Prkar2b |
A |
T |
12: 32,110,984 (GRCm39) |
L33Q |
probably damaging |
Het |
| Ralgps2 |
A |
T |
1: 156,641,067 (GRCm39) |
V496E |
probably damaging |
Het |
| Rbms2 |
G |
A |
10: 127,981,606 (GRCm39) |
P81L |
probably damaging |
Het |
| Scara5 |
T |
C |
14: 65,927,264 (GRCm39) |
S54P |
possibly damaging |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Srrt |
C |
A |
5: 137,294,813 (GRCm39) |
A747S |
probably benign |
Het |
| Sycp2 |
C |
T |
2: 177,998,296 (GRCm39) |
D1075N |
probably benign |
Het |
| Tasor |
A |
G |
14: 27,193,992 (GRCm39) |
D1064G |
possibly damaging |
Het |
| Vat1l |
G |
A |
8: 115,011,088 (GRCm39) |
V279I |
probably damaging |
Het |
| Zfp677 |
A |
G |
17: 21,617,410 (GRCm39) |
K156E |
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 |
|
IGL03336:Slc18a3
|
APN |
14 |
32,184,785 (GRCm39) |
intron |
probably benign |
|
|
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 |
|
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'- TCCAGCAAAGGAATTCAGGGC -3'
(R):5'- GTTCACTCACTTGGCTTTGAG -3'
Sequencing Primer
(F):5'- AATTCAGGGCGGGGGAC -3'
(R):5'- TTGAGCAGCTCAGCCTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation