Incidental Mutation 'R1022:Syt3'
| ID |
98782 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt3
|
| Ensembl Gene |
ENSMUSG00000030731 |
| Gene Name |
synaptotagmin III |
| Synonyms |
|
| MMRRC Submission |
039124-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.285)
|
| Stock # |
R1022 (G1)
|
| Quality Score |
198 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
44033526-44049611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 44040106 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 113
(G113V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112968
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118831]
[ENSMUST00000118962]
[ENSMUST00000120262]
[ENSMUST00000130707]
[ENSMUST00000130844]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118831
AA Change: G113V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: G113V
| 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: G113V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: G113V
| 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: G113V
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: G113V
| 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 benign
Transcript: ENSMUST00000130707
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130844
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134535
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150034
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206723
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
| Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
| H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
| Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
| Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
| Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
| Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
| Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
| Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
| Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
| Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
probably 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 |
|
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 |
|
R2924:Syt3
|
UTSW |
7 |
44,045,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TCGTGACATTCTGTGGCATCGTCC -3'
(R):5'- GACTTGTGACCTGCTGATGAGACTG -3'
Sequencing Primer
(F):5'- CTGTGGCATCGTCCTCTTGG -3'
(R):5'- CACAGCAGCCTCTGGATATGAG -3'
|
| Posted On |
2014-01-09 |
Incidental Mutation