Incidental Mutation 'R5430:Syt3'
| ID |
427130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt3
|
| Ensembl Gene |
ENSMUSG00000030731 |
| Gene Name |
synaptotagmin III |
| Synonyms |
|
| MMRRC Submission |
042996-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R5430 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
44033526-44049611 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 44040337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 190
(L190R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000118831
AA Change: L190R
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112432
Gene: ENSMUSG00000030731
AA Change: L190R
| 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 |
possibly damaging
Transcript: ENSMUST00000118962
AA Change: L190R
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000114070
Gene: ENSMUSG00000030731
AA Change: L190R
| 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 |
possibly damaging
Transcript: ENSMUST00000120262
AA Change: L190R
PolyPhen 2
Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000112968
Gene: ENSMUSG00000030731
AA Change: L190R
| 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: ENSMUST00000206723
|
| Meta Mutation Damage Score |
0.1335 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
96% (54/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001J11Rik |
T |
A |
9: 39,963,587 (GRCm39) |
|
noncoding transcript |
Het |
| Acot11 |
C |
T |
4: 106,617,327 (GRCm39) |
G240R |
probably damaging |
Het |
| Ankrd34a |
G |
A |
3: 96,504,837 (GRCm39) |
G14R |
probably damaging |
Het |
| Arhgef1 |
C |
A |
7: 24,611,732 (GRCm39) |
|
probably null |
Het |
| Brsk1 |
T |
C |
7: 4,713,435 (GRCm39) |
F702L |
probably benign |
Het |
| Chrna3 |
C |
T |
9: 54,920,192 (GRCm39) |
V470I |
probably damaging |
Het |
| Cpm |
A |
G |
10: 117,511,986 (GRCm39) |
Q310R |
possibly damaging |
Het |
| Dennd5a |
T |
C |
7: 109,533,447 (GRCm39) |
T108A |
probably damaging |
Het |
| Dvl3 |
C |
T |
16: 20,342,481 (GRCm39) |
R145W |
probably damaging |
Het |
| E4f1 |
G |
A |
17: 24,663,944 (GRCm39) |
A532V |
probably damaging |
Het |
| Eid1 |
A |
G |
2: 125,515,550 (GRCm39) |
T147A |
probably damaging |
Het |
| Eipr1 |
A |
T |
12: 28,913,015 (GRCm39) |
N239Y |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,760,417 (GRCm39) |
I1777M |
probably damaging |
Het |
| Gm11787 |
A |
T |
4: 3,512,786 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
C |
3: 108,005,716 (GRCm39) |
L227P |
probably damaging |
Het |
| H2-T15 |
C |
T |
17: 36,366,967 (GRCm39) |
V359I |
probably benign |
Het |
| Jag1 |
T |
C |
2: 136,943,626 (GRCm39) |
H190R |
possibly damaging |
Het |
| Kdm7a |
A |
G |
6: 39,126,276 (GRCm39) |
W570R |
possibly damaging |
Het |
| Lmbrd1 |
A |
G |
1: 24,732,061 (GRCm39) |
T93A |
possibly damaging |
Het |
| Lrch4 |
T |
C |
5: 137,636,795 (GRCm39) |
S433P |
possibly damaging |
Het |
| Lrp1 |
G |
A |
10: 127,376,930 (GRCm39) |
R4216W |
probably damaging |
Het |
| Magohb |
A |
G |
6: 131,266,381 (GRCm39) |
Y42H |
probably damaging |
Het |
| Melk |
A |
G |
4: 44,309,033 (GRCm39) |
H130R |
probably damaging |
Het |
| Mettl24 |
G |
T |
10: 40,613,780 (GRCm39) |
R173L |
probably benign |
Het |
| Mup4 |
A |
T |
4: 59,960,044 (GRCm39) |
H73Q |
probably damaging |
Het |
| Mylk2 |
A |
T |
2: 152,759,468 (GRCm39) |
E386V |
probably damaging |
Het |
| Nppb |
C |
T |
4: 148,070,838 (GRCm39) |
P71L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,945,208 (GRCm39) |
V272A |
probably damaging |
Het |
| Or14j6 |
T |
A |
17: 38,215,304 (GRCm39) |
I289N |
probably damaging |
Het |
| Or2t6 |
C |
T |
14: 14,175,692 (GRCm38) |
R130H |
probably benign |
Het |
| Or4c10 |
A |
T |
2: 89,760,257 (GRCm39) |
I35F |
probably benign |
Het |
| Osbpl6 |
T |
C |
2: 76,416,482 (GRCm39) |
S628P |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,775,843 (GRCm39) |
V253A |
probably damaging |
Het |
| Pex12 |
T |
C |
11: 83,188,572 (GRCm39) |
D141G |
probably damaging |
Het |
| Ppm1k |
A |
T |
6: 57,501,871 (GRCm39) |
C97* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,554,046 (GRCm39) |
E807V |
probably damaging |
Het |
| Sema3a |
A |
T |
5: 13,615,730 (GRCm39) |
T385S |
probably damaging |
Het |
| Sfn |
T |
C |
4: 133,328,938 (GRCm39) |
Y48C |
probably damaging |
Het |
| Slc38a8 |
A |
G |
8: 120,220,959 (GRCm39) |
I200T |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,665,776 (GRCm39) |
V758A |
probably damaging |
Het |
| Stmn4 |
A |
G |
14: 66,595,463 (GRCm39) |
M190V |
possibly damaging |
Het |
| Tbl1xr1 |
T |
A |
3: 22,246,246 (GRCm39) |
D255E |
probably benign |
Het |
| Ttbk2 |
C |
T |
2: 120,608,046 (GRCm39) |
R191H |
probably damaging |
Het |
| Vmn1r238 |
G |
T |
18: 3,122,521 (GRCm39) |
L298M |
possibly damaging |
Het |
| Vmn2r45 |
A |
C |
7: 8,486,333 (GRCm39) |
Y318* |
probably null |
Het |
| Vsig8 |
T |
C |
1: 172,387,196 (GRCm39) |
I24T |
probably damaging |
Het |
| Wdr3 |
G |
A |
3: 100,064,643 (GRCm39) |
T166I |
possibly damaging |
Het |
| Zfp354c |
A |
G |
11: 50,706,022 (GRCm39) |
I351T |
probably benign |
Het |
| Zfp52 |
A |
G |
17: 21,775,329 (GRCm39) |
T8A |
probably benign |
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 |
|
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 |
|
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'- CCTCTTCGTGTCCTGGAAGTTG -3'
(R):5'- ACCCTGGTATCAGAAGAGCC -3'
Sequencing Primer
(F):5'- AAAGACTTAGCCCCTGGGGTTG -3'
(R):5'- CTGGTATCAGAAGAGCCACAGATAAG -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation