Incidental Mutation 'IGL02888:Sytl3'
| ID |
363077 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sytl3
|
| Ensembl Gene |
ENSMUSG00000041831 |
| Gene Name |
synaptotagmin-like 3 |
| Synonyms |
Slp3-b, Slp3-a, Slp3 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.263)
|
| Stock # |
IGL02888
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
6926492-7005443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 7000483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 218
(T218A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123996
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064234]
[ENSMUST00000097430]
[ENSMUST00000159394]
[ENSMUST00000159880]
[ENSMUST00000160483]
[ENSMUST00000161118]
[ENSMUST00000162635]
|
| AlphaFold |
Q99N48 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064234
|
| SMART Domains |
Protein: ENSMUSP00000063734
Gene: ENSMUSG00000052397
| Domain | Start | End | E-Value | Type |
|---|
|
B41
|
1 |
206 |
7.74e-79 |
SMART |
|
FERM_C
|
210 |
299 |
1.34e-35 |
SMART |
|
Pfam:ERM
|
338 |
586 |
2.3e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097430
AA Change: T423A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095041
Gene: ENSMUSG00000041831
AA Change: T423A
| 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: 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: T228A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000125469
Gene: ENSMUSG00000041831
AA Change: T228A
| 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: T218A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000123996
Gene: ENSMUSG00000041831
AA Change: T218A
| 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 |
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232362
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231743
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,104,610 (GRCm39) |
H345R |
probably damaging |
Het |
| Afap1l1 |
T |
A |
18: 61,881,879 (GRCm39) |
Y272F |
probably damaging |
Het |
| AI661453 |
C |
A |
17: 47,778,329 (GRCm39) |
|
probably benign |
Het |
| Ajap1 |
T |
G |
4: 153,516,718 (GRCm39) |
I208L |
probably benign |
Het |
| Aldh3b2 |
G |
A |
19: 4,030,083 (GRCm39) |
V356M |
probably benign |
Het |
| Angptl7 |
T |
A |
4: 148,580,788 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
G |
A |
11: 72,867,954 (GRCm39) |
|
probably benign |
Het |
| Birc2 |
T |
C |
9: 7,819,559 (GRCm39) |
D451G |
probably benign |
Het |
| Brpf3 |
G |
A |
17: 29,047,365 (GRCm39) |
R1043H |
probably damaging |
Het |
| Cd177 |
A |
G |
7: 24,457,862 (GRCm39) |
L132P |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,543,067 (GRCm39) |
D735G |
probably benign |
Het |
| Cldn8 |
A |
T |
16: 88,359,271 (GRCm39) |
I218K |
probably benign |
Het |
| Cltc |
T |
C |
11: 86,648,123 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,718,068 (GRCm39) |
H619R |
unknown |
Het |
| Crxos |
G |
A |
7: 15,636,855 (GRCm39) |
E143K |
possibly damaging |
Het |
| Dcp1b |
A |
G |
6: 119,197,048 (GRCm39) |
|
probably benign |
Het |
| Ddc |
A |
G |
11: 11,772,297 (GRCm39) |
|
probably benign |
Het |
| Dnajc13 |
A |
T |
9: 104,057,261 (GRCm39) |
|
probably benign |
Het |
| Dnajc27 |
C |
T |
12: 4,139,186 (GRCm39) |
H75Y |
possibly damaging |
Het |
| Fgd3 |
C |
T |
13: 49,435,292 (GRCm39) |
|
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,130,650 (GRCm39) |
D1414G |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,331,169 (GRCm39) |
P169L |
probably damaging |
Het |
| Ighv1-76 |
T |
A |
12: 115,811,566 (GRCm39) |
S96C |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,754,053 (GRCm39) |
I206K |
possibly damaging |
Het |
| Lypd5 |
A |
G |
7: 24,052,044 (GRCm39) |
S120G |
probably damaging |
Het |
| Mgat4b |
T |
A |
11: 50,123,159 (GRCm39) |
Y249N |
probably damaging |
Het |
| Msh4 |
A |
T |
3: 153,602,550 (GRCm39) |
L32* |
probably null |
Het |
| Muc4 |
A |
G |
16: 32,575,656 (GRCm39) |
|
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,177,013 (GRCm39) |
|
probably benign |
Het |
| Nenf |
T |
C |
1: 191,042,118 (GRCm39) |
T113A |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,469,626 (GRCm39) |
D75G |
possibly damaging |
Het |
| Nutm1 |
A |
T |
2: 112,080,980 (GRCm39) |
L438Q |
probably damaging |
Het |
| Oas1h |
A |
T |
5: 120,999,610 (GRCm39) |
I32F |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,075,241 (GRCm39) |
V434M |
probably damaging |
Het |
| Or2a5 |
A |
G |
6: 42,874,263 (GRCm39) |
N293D |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,925 (GRCm39) |
L291P |
probably damaging |
Het |
| Pde2a |
C |
A |
7: 101,154,276 (GRCm39) |
H549Q |
probably damaging |
Het |
| Phkb |
G |
T |
8: 86,662,101 (GRCm39) |
|
probably null |
Het |
| Pigm |
T |
C |
1: 172,205,214 (GRCm39) |
C317R |
probably damaging |
Het |
| Ppl |
A |
T |
16: 4,918,271 (GRCm39) |
S470R |
possibly damaging |
Het |
| Pramel14 |
G |
A |
4: 143,720,669 (GRCm39) |
R91W |
probably benign |
Het |
| Slc13a4 |
A |
T |
6: 35,245,775 (GRCm39) |
D623E |
probably benign |
Het |
| Stx11 |
A |
G |
10: 12,817,359 (GRCm39) |
S122P |
possibly damaging |
Het |
| Tango6 |
A |
G |
8: 107,447,297 (GRCm39) |
D565G |
probably damaging |
Het |
| Tex14 |
T |
C |
11: 87,418,738 (GRCm39) |
|
probably null |
Het |
| Tinag |
T |
C |
9: 76,938,995 (GRCm39) |
D161G |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,795,011 (GRCm39) |
D1120G |
probably damaging |
Het |
| Zfp446 |
G |
A |
7: 12,713,255 (GRCm39) |
A98T |
probably damaging |
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 |
|
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 |
|
|
R5485:Sytl3
|
UTSW |
17 |
6,982,879 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation