Incidental Mutation 'R2924:Syt3'
| ID |
255662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt3
|
| Ensembl Gene |
ENSMUSG00000030731 |
| Gene Name |
synaptotagmin III |
| Synonyms |
|
| MMRRC Submission |
040509-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R2924 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44033526-44049611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44045222 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 518
(V518E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118831]
[ENSMUST00000118962]
[ENSMUST00000120262]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118831
AA Change: V518E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: V518E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
298 |
N/A |
INTRINSIC |
|
C2
|
312 |
415 |
1.89e-25 |
SMART |
|
C2
|
444 |
559 |
3.42e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118962
AA Change: V518E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: V518E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
298 |
N/A |
INTRINSIC |
|
C2
|
312 |
415 |
1.89e-25 |
SMART |
|
C2
|
444 |
559 |
3.42e-23 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120262
AA Change: V518E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: V518E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
52 |
74 |
N/A |
INTRINSIC |
|
low complexity region
|
101 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
171 |
181 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
229 |
244 |
N/A |
INTRINSIC |
|
low complexity region
|
252 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
279 |
298 |
N/A |
INTRINSIC |
|
C2
|
312 |
415 |
1.89e-25 |
SMART |
|
C2
|
444 |
559 |
3.42e-23 |
SMART |
|
| Meta Mutation Damage Score |
0.3744 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl9 |
A |
G |
3: 97,117,069 (GRCm39) |
S542P |
probably benign |
Het |
| Cass4 |
A |
G |
2: 172,268,592 (GRCm39) |
R225G |
possibly damaging |
Het |
| Ddx50 |
A |
T |
10: 62,463,373 (GRCm39) |
V440E |
probably damaging |
Het |
| Dmrtc2 |
G |
A |
7: 24,571,941 (GRCm39) |
C12Y |
probably damaging |
Het |
| Dock6 |
A |
T |
9: 21,720,926 (GRCm39) |
I1693N |
probably damaging |
Het |
| Fuom |
T |
C |
7: 139,679,862 (GRCm39) |
T110A |
probably benign |
Het |
| Gli2 |
C |
T |
1: 118,764,089 (GRCm39) |
R1354H |
probably benign |
Het |
| Gm5478 |
A |
T |
15: 101,552,229 (GRCm39) |
|
probably null |
Het |
| Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
| Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
| Il2rb |
T |
C |
15: 78,376,049 (GRCm39) |
M1V |
probably null |
Het |
| Ints6l |
A |
G |
X: 55,550,196 (GRCm39) |
E483G |
probably benign |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,981,446 (GRCm39) |
F224L |
probably benign |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,618 (GRCm39) |
|
probably null |
Het |
| Mtbp |
G |
A |
15: 55,483,210 (GRCm39) |
R429Q |
probably benign |
Het |
| Ncapg2 |
C |
A |
12: 116,402,349 (GRCm39) |
T727K |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Nup214 |
A |
G |
2: 31,888,015 (GRCm39) |
K15E |
probably damaging |
Het |
| Or1e34 |
A |
G |
11: 73,778,337 (GRCm39) |
I287T |
probably damaging |
Het |
| Oxr1 |
T |
C |
15: 41,689,353 (GRCm39) |
Y526H |
probably benign |
Het |
| Plec |
A |
G |
15: 76,062,452 (GRCm39) |
F2563S |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,168,711 (GRCm39) |
T236A |
probably damaging |
Het |
| Rbbp5 |
G |
C |
1: 132,420,401 (GRCm39) |
|
probably null |
Het |
| Slc24a2 |
A |
G |
4: 86,929,961 (GRCm39) |
S512P |
probably benign |
Het |
| Srd5a1 |
A |
G |
13: 69,734,834 (GRCm39) |
S191P |
probably damaging |
Het |
| Tmem132e |
T |
C |
11: 82,335,149 (GRCm39) |
S652P |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,307,130 (GRCm39) |
V102D |
probably damaging |
Het |
| Unc13a |
A |
G |
8: 72,097,596 (GRCm39) |
V1158A |
possibly damaging |
Het |
| Upk3a |
A |
G |
15: 84,902,350 (GRCm39) |
Y59C |
probably benign |
Het |
| Zc3hav1 |
T |
C |
6: 38,331,045 (GRCm39) |
Y38C |
probably damaging |
Het |
| Zfp119a |
C |
A |
17: 56,175,343 (GRCm39) |
D51Y |
possibly damaging |
Het |
|
| Other mutations in Syt3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01487:Syt3
|
APN |
7 |
44,040,423 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02738:Syt3
|
APN |
7 |
44,035,447 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL02751:Syt3
|
APN |
7 |
44,035,486 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0129:Syt3
|
UTSW |
7 |
44,042,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0749:Syt3
|
UTSW |
7 |
44,048,571 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1022:Syt3
|
UTSW |
7 |
44,040,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1024:Syt3
|
UTSW |
7 |
44,040,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1204:Syt3
|
UTSW |
7 |
44,042,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Syt3
|
UTSW |
7 |
44,045,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Syt3
|
UTSW |
7 |
44,045,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Syt3
|
UTSW |
7 |
44,039,940 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2848:Syt3
|
UTSW |
7 |
44,042,866 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2849:Syt3
|
UTSW |
7 |
44,042,866 (GRCm39) |
missense |
probably benign |
0.43 |
|
R2925:Syt3
|
UTSW |
7 |
44,045,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4560:Syt3
|
UTSW |
7 |
44,045,368 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5161:Syt3
|
UTSW |
7 |
44,045,439 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5430:Syt3
|
UTSW |
7 |
44,040,337 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5570:Syt3
|
UTSW |
7 |
44,040,043 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5572:Syt3
|
UTSW |
7 |
44,040,142 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5975:Syt3
|
UTSW |
7 |
44,042,187 (GRCm39) |
nonsense |
probably null |
|
|
R6370:Syt3
|
UTSW |
7 |
44,045,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7291:Syt3
|
UTSW |
7 |
44,045,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7319:Syt3
|
UTSW |
7 |
44,041,953 (GRCm39) |
nonsense |
probably null |
|
|
R7382:Syt3
|
UTSW |
7 |
44,042,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7579:Syt3
|
UTSW |
7 |
44,040,272 (GRCm39) |
nonsense |
probably null |
|
|
R7705:Syt3
|
UTSW |
7 |
44,042,083 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7743:Syt3
|
UTSW |
7 |
44,042,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8122:Syt3
|
UTSW |
7 |
44,045,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9134:Syt3
|
UTSW |
7 |
44,042,791 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9705:Syt3
|
UTSW |
7 |
44,045,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Syt3
|
UTSW |
7 |
44,045,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Syt3
|
UTSW |
7 |
44,040,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCTGTACAGACCCCTATGTG -3'
(R):5'- ACTAGCTGGTGCCAGTGTTC -3'
Sequencing Primer
(F):5'- TGTACAGACCCCTATGTGAAGGC -3'
(R):5'- AGTGTTCCACAGGCTTGC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation