Incidental Mutation 'R5485:Sytl3'
| ID |
432543 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sytl3
|
| Ensembl Gene |
ENSMUSG00000041831 |
| Gene Name |
synaptotagmin-like 3 |
| Synonyms |
Slp3-b, Slp3-a, Slp3 |
| MMRRC Submission |
043046-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
R5485 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
6926492-7005443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 6982879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 112
(V112I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097430]
[ENSMUST00000115763]
[ENSMUST00000159394]
[ENSMUST00000159880]
[ENSMUST00000160483]
[ENSMUST00000161118]
[ENSMUST00000162635]
|
| AlphaFold |
Q99N48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097430
AA Change: V317I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000095041
Gene: ENSMUSG00000041831
AA Change: V317I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
124 |
6e-25 |
PFAM |
|
low complexity region
|
162 |
170 |
N/A |
INTRINSIC |
|
C2
|
321 |
426 |
9.17e-15 |
SMART |
|
C2
|
478 |
601 |
1.92e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115763
|
| SMART Domains |
Protein: ENSMUSP00000111429
Gene: ENSMUSG00000041831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
124 |
4.3e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159394
|
| SMART Domains |
Protein: ENSMUSP00000124146
Gene: ENSMUSG00000041831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
124 |
3.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159880
AA Change: V122I
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000125469
Gene: ENSMUSG00000041831
AA Change: V122I
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
116 |
221 |
9.17e-15 |
SMART |
|
C2
|
273 |
396 |
1.92e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160483
AA Change: V112I
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000123996
Gene: ENSMUSG00000041831
AA Change: V112I
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
126 |
231 |
9.17e-15 |
SMART |
|
C2
|
283 |
406 |
1.92e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161118
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231743
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162635
|
| SMART Domains |
Protein: ENSMUSP00000124496
Gene: ENSMUSG00000041831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FYVE_2
|
8 |
124 |
4.3e-27 |
PFAM |
|
low complexity region
|
158 |
176 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.6%
|
| Validation Efficiency |
98% (59/60) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700093K21Rik |
A |
T |
11: 23,467,378 (GRCm39) |
V85D |
probably benign |
Het |
| Abcb8 |
A |
G |
5: 24,605,159 (GRCm39) |
N115S |
probably benign |
Het |
| Appl1 |
C |
A |
14: 26,684,823 (GRCm39) |
L75F |
probably damaging |
Het |
| Atp13a5 |
A |
G |
16: 29,100,760 (GRCm39) |
|
probably null |
Het |
| Atp2c2 |
T |
A |
8: 120,479,801 (GRCm39) |
|
probably null |
Het |
| Cfap54 |
T |
A |
10: 92,864,979 (GRCm39) |
I94F |
probably damaging |
Het |
| Clasp1 |
A |
G |
1: 118,395,643 (GRCm39) |
I194V |
possibly damaging |
Het |
| Crebbp |
A |
C |
16: 3,932,777 (GRCm39) |
D1000E |
probably benign |
Het |
| Ctdnep1 |
C |
T |
11: 69,872,316 (GRCm39) |
R3W |
possibly damaging |
Het |
| Dgkb |
T |
C |
12: 38,177,363 (GRCm39) |
V230A |
probably damaging |
Het |
| Duoxa2 |
T |
C |
2: 122,129,633 (GRCm39) |
F38L |
possibly damaging |
Het |
| Ecd |
T |
C |
14: 20,388,273 (GRCm39) |
S172G |
probably benign |
Het |
| Endog |
G |
T |
2: 30,061,663 (GRCm39) |
|
probably benign |
Het |
| Eqtn |
G |
A |
4: 94,813,193 (GRCm39) |
P131L |
possibly damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,367,767 (GRCm39) |
S290T |
possibly damaging |
Het |
| Glt8d2 |
T |
A |
10: 82,487,282 (GRCm39) |
R319S |
possibly damaging |
Het |
| Gm16686 |
A |
G |
4: 88,673,641 (GRCm39) |
|
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,542,983 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7381 |
T |
C |
8: 3,892,161 (GRCm39) |
|
noncoding transcript |
Het |
| Gorab |
T |
G |
1: 163,213,871 (GRCm39) |
D353A |
possibly damaging |
Het |
| Gstm1 |
A |
G |
3: 107,924,720 (GRCm39) |
L20P |
probably damaging |
Het |
| Hexim2 |
A |
G |
11: 103,029,884 (GRCm39) |
D312G |
probably benign |
Het |
| Hfm1 |
A |
G |
5: 106,995,528 (GRCm39) |
|
probably null |
Het |
| Mbd4 |
C |
A |
6: 115,827,679 (GRCm39) |
A66S |
probably benign |
Het |
| Mmp27 |
T |
A |
9: 7,573,363 (GRCm39) |
W152R |
probably damaging |
Het |
| Mogat1 |
A |
G |
1: 78,500,307 (GRCm39) |
T124A |
probably benign |
Het |
| Mrps18b |
A |
T |
17: 36,225,236 (GRCm39) |
V102D |
probably damaging |
Het |
| Or10g3b |
A |
T |
14: 52,586,776 (GRCm39) |
C242* |
probably null |
Het |
| Peg10 |
T |
A |
6: 4,755,565 (GRCm39) |
M47K |
probably benign |
Het |
| Plxnc1 |
T |
G |
10: 94,758,604 (GRCm39) |
Q364P |
probably benign |
Het |
| Psd |
A |
T |
19: 46,304,528 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
G |
1: 22,522,289 (GRCm39) |
I470L |
possibly damaging |
Het |
| Sbsn |
T |
C |
7: 30,452,542 (GRCm39) |
V519A |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,964,377 (GRCm39) |
V279A |
probably benign |
Het |
| Sfxn5 |
T |
A |
6: 85,309,582 (GRCm39) |
|
probably benign |
Het |
| Slc6a13 |
T |
A |
6: 121,313,032 (GRCm39) |
M483K |
probably damaging |
Het |
| Slc6a21 |
G |
A |
7: 44,931,966 (GRCm39) |
|
probably null |
Het |
| Slco6c1 |
T |
C |
1: 97,053,481 (GRCm39) |
Y140C |
probably damaging |
Het |
| Spata32 |
A |
G |
11: 103,100,122 (GRCm39) |
S128P |
probably damaging |
Het |
| Spty2d1 |
G |
T |
7: 46,647,633 (GRCm39) |
T432K |
possibly damaging |
Het |
| Stx8 |
A |
G |
11: 67,911,792 (GRCm39) |
Q170R |
probably benign |
Het |
| Tdrkh |
A |
G |
3: 94,336,019 (GRCm39) |
I420V |
probably benign |
Het |
| Tmem117 |
T |
C |
15: 94,992,711 (GRCm39) |
V457A |
probably benign |
Het |
| Tpk1 |
T |
C |
6: 43,642,746 (GRCm39) |
|
probably benign |
Het |
| Trpc2 |
GTGTCCTA |
GTGTCCTATGTCCTA |
7: 101,744,420 (GRCm39) |
|
probably null |
Het |
| Tsen54 |
A |
G |
11: 115,706,048 (GRCm39) |
E90G |
probably benign |
Het |
| Ugt1a2 |
A |
T |
1: 88,128,968 (GRCm39) |
M204L |
probably damaging |
Het |
| Vmn2r17 |
A |
T |
5: 109,567,972 (GRCm39) |
I32F |
probably benign |
Het |
| Xkr6 |
T |
C |
14: 64,056,833 (GRCm39) |
V248A |
unknown |
Het |
| Zfhx4 |
C |
A |
3: 5,308,067 (GRCm39) |
S431Y |
probably damaging |
Het |
| Zfp318 |
T |
A |
17: 46,723,180 (GRCm39) |
S1728T |
possibly damaging |
Het |
| Zfp563 |
T |
C |
17: 33,308,540 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sytl3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01626:Sytl3
|
APN |
17 |
7,002,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02888:Sytl3
|
APN |
17 |
7,000,483 (GRCm39) |
missense |
probably benign |
|
|
IGL02893:Sytl3
|
APN |
17 |
7,000,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Sytl3
|
UTSW |
17 |
6,973,430 (GRCm39) |
splice site |
probably benign |
|
|
R1469:Sytl3
|
UTSW |
17 |
6,954,723 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1469:Sytl3
|
UTSW |
17 |
6,954,723 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1735:Sytl3
|
UTSW |
17 |
6,982,880 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1765:Sytl3
|
UTSW |
17 |
6,967,082 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1834:Sytl3
|
UTSW |
17 |
6,995,726 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1933:Sytl3
|
UTSW |
17 |
7,000,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1952:Sytl3
|
UTSW |
17 |
6,995,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1992:Sytl3
|
UTSW |
17 |
7,000,448 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2279:Sytl3
|
UTSW |
17 |
6,976,273 (GRCm39) |
intron |
probably benign |
|
|
R2411:Sytl3
|
UTSW |
17 |
7,003,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4019:Sytl3
|
UTSW |
17 |
7,003,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4853:Sytl3
|
UTSW |
17 |
7,005,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4857:Sytl3
|
UTSW |
17 |
7,003,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5169:Sytl3
|
UTSW |
17 |
6,982,945 (GRCm39) |
nonsense |
probably null |
|
|
R6035:Sytl3
|
UTSW |
17 |
6,995,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6035:Sytl3
|
UTSW |
17 |
6,995,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7540:Sytl3
|
UTSW |
17 |
6,949,346 (GRCm39) |
intron |
probably benign |
|
|
R7792:Sytl3
|
UTSW |
17 |
7,003,977 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7836:Sytl3
|
UTSW |
17 |
6,982,774 (GRCm39) |
splice site |
probably null |
|
|
R8508:Sytl3
|
UTSW |
17 |
6,995,690 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8836:Sytl3
|
UTSW |
17 |
6,973,410 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9173:Sytl3
|
UTSW |
17 |
7,000,471 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGTGCATTTATCAGTTGAACATG -3'
(R):5'- GCAAAGTACCACAGCTGTCTG -3'
Sequencing Primer
(F):5'- GCATTTATCAGTTGAACATGAGTCAG -3'
(R):5'- AGTACCACAGCTGTCTGATGCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation