Incidental Mutation 'IGL01106:Syt5'
| ID |
51548 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syt5
|
| Ensembl Gene |
ENSMUSG00000004961 |
| Gene Name |
synaptotagmin V |
| Synonyms |
SytIX |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
IGL01106
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
4542764-4550540 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4544156 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 295
(T295A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065957]
[ENSMUST00000206023]
|
| AlphaFold |
Q9R0N5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065957
AA Change: T295A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070322
Gene: ENSMUSG00000004961
AA Change: T295A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
C2
|
124 |
226 |
2.8e-19 |
SMART |
|
C2
|
255 |
369 |
4.76e-22 |
SMART |
|
low complexity region
|
375 |
386 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206023
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptotagmins, such as SYT5, are a family of type III membrane proteins characterized by cytoplasmic repeats related to protein kinase C (see MIM 176960) regulatory (C2) domains, which are thought to bind calcium. Synaptotagmins may act both as negative regulators of vesicle fusion, allowing fusion in the presence of calcium, and as calcium receptors or sensor molecules (summary by Hudson and Birnbaum, 1995 [PubMed 7597049]).[supplied by OMIM, Feb 2011]
PHENOTYPE: About 50% of mice homozygous for a knock-out allele exhibit prenatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atg13 |
T |
C |
2: 91,526,297 (GRCm39) |
D12G |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,221,120 (GRCm39) |
L3163P |
probably damaging |
Het |
| Cntn2 |
A |
G |
1: 132,449,622 (GRCm39) |
|
probably benign |
Het |
| Ddx23 |
C |
T |
15: 98,548,821 (GRCm39) |
R327Q |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,931,853 (GRCm39) |
E91K |
probably benign |
Het |
| Fam13c |
T |
C |
10: 70,284,646 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
T |
C |
2: 125,193,626 (GRCm39) |
T1398A |
possibly damaging |
Het |
| Frem1 |
T |
C |
4: 82,840,494 (GRCm39) |
T1793A |
probably benign |
Het |
| Gprc5b |
T |
C |
7: 118,583,084 (GRCm39) |
K262E |
probably benign |
Het |
| Hadh |
A |
T |
3: 131,034,619 (GRCm39) |
Y226N |
possibly damaging |
Het |
| Herc1 |
T |
A |
9: 66,383,720 (GRCm39) |
|
probably benign |
Het |
| Ikbke |
A |
G |
1: 131,187,792 (GRCm39) |
|
probably benign |
Het |
| Iqcg |
T |
A |
16: 32,855,970 (GRCm39) |
I202L |
possibly damaging |
Het |
| Kank3 |
G |
A |
17: 34,036,375 (GRCm39) |
G81E |
probably damaging |
Het |
| Kcna3 |
A |
G |
3: 106,945,180 (GRCm39) |
E481G |
possibly damaging |
Het |
| Kdm1a |
A |
G |
4: 136,299,639 (GRCm39) |
|
probably benign |
Het |
| Klhdc8a |
A |
T |
1: 132,232,438 (GRCm39) |
S321C |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,900,666 (GRCm39) |
K255E |
probably benign |
Het |
| Lhfpl4 |
T |
A |
6: 113,170,824 (GRCm39) |
T121S |
probably benign |
Het |
| Lsm11 |
G |
A |
11: 45,824,490 (GRCm39) |
Q346* |
probably null |
Het |
| Mcoln3 |
A |
G |
3: 145,843,019 (GRCm39) |
T368A |
probably benign |
Het |
| Nlrp4g |
A |
T |
9: 124,350,452 (GRCm38) |
|
noncoding transcript |
Het |
| Nol8 |
A |
G |
13: 49,807,957 (GRCm39) |
I58V |
possibly damaging |
Het |
| Or5al6 |
C |
T |
2: 85,976,560 (GRCm39) |
V173M |
probably benign |
Het |
| Phactr4 |
A |
G |
4: 132,098,116 (GRCm39) |
F384S |
probably benign |
Het |
| Prkg1 |
T |
A |
19: 30,562,678 (GRCm39) |
I509L |
probably benign |
Het |
| Rims1 |
T |
A |
1: 22,449,671 (GRCm39) |
D1019V |
probably damaging |
Het |
| Sclt1 |
T |
C |
3: 41,629,754 (GRCm39) |
|
probably benign |
Het |
| Sntg2 |
T |
A |
12: 30,307,987 (GRCm39) |
K233* |
probably null |
Het |
|
| Other mutations in Syt5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02730:Syt5
|
APN |
7 |
4,545,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03345:Syt5
|
APN |
7 |
4,545,206 (GRCm39) |
missense |
probably benign |
|
|
PIT4495001:Syt5
|
UTSW |
7 |
4,544,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0352:Syt5
|
UTSW |
7 |
4,544,170 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0479:Syt5
|
UTSW |
7 |
4,546,108 (GRCm39) |
missense |
probably benign |
|
|
R0512:Syt5
|
UTSW |
7 |
4,545,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0627:Syt5
|
UTSW |
7 |
4,548,682 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1522:Syt5
|
UTSW |
7 |
4,543,245 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1919:Syt5
|
UTSW |
7 |
4,543,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Syt5
|
UTSW |
7 |
4,546,088 (GRCm39) |
nonsense |
probably null |
|
|
R5265:Syt5
|
UTSW |
7 |
4,544,074 (GRCm39) |
splice site |
probably null |
|
|
R5643:Syt5
|
UTSW |
7 |
4,546,018 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7067:Syt5
|
UTSW |
7 |
4,546,075 (GRCm39) |
missense |
probably benign |
|
|
R7397:Syt5
|
UTSW |
7 |
4,545,395 (GRCm39) |
splice site |
probably null |
|
|
R8218:Syt5
|
UTSW |
7 |
4,545,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9776:Syt5
|
UTSW |
7 |
4,544,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-06-21 |
Incidental Mutation