Incidental Mutation 'IGL03015:Syt13'
| ID |
407907 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syt13
|
| Ensembl Gene |
ENSMUSG00000027220 |
| Gene Name |
synaptotagmin XIII |
| Synonyms |
5730409J20Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
IGL03015
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
92745446-92786403 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 92781725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 309
(I309V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028648
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028648]
|
| AlphaFold |
Q9EQT6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028648
AA Change: I309V
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028648
Gene: ENSMUSG00000027220
AA Change: I309V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
Pfam:C2
|
165 |
277 |
5e-8 |
PFAM |
|
C2
|
303 |
419 |
7.86e-14 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the large synaptotagmin protein family. Family members have an extracellular N-terminal transmembrane domain and a cytoplasmic C terminus with two tandem C2 domains (C2A and C2B). Synaptotogmin family members can form homo- and heteromeric complexes with each other. They also have different biochemical properties and developmental profiles, and patterns of tissue distribution. Synaptotagmins function as membrane traffickers in multicellular organisms. Two alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
T |
G |
14: 29,708,273 (GRCm39) |
W184G |
possibly damaging |
Het |
| Asb4 |
T |
C |
6: 5,398,515 (GRCm39) |
V160A |
possibly damaging |
Het |
| Cct8 |
C |
A |
16: 87,283,553 (GRCm39) |
|
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,161,103 (GRCm39) |
|
probably benign |
Het |
| Itpr2 |
T |
C |
6: 146,277,435 (GRCm39) |
I325V |
probably benign |
Het |
| Lipk |
A |
G |
19: 33,996,108 (GRCm39) |
T7A |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,206,504 (GRCm39) |
V55A |
probably damaging |
Het |
| Malrd1 |
A |
C |
2: 16,047,082 (GRCm39) |
D1736A |
unknown |
Het |
| Nav3 |
T |
A |
10: 109,554,158 (GRCm39) |
I1735F |
probably damaging |
Het |
| Nmbr |
T |
A |
10: 14,636,412 (GRCm39) |
V127E |
probably damaging |
Het |
| Notch2 |
A |
G |
3: 97,979,965 (GRCm39) |
T160A |
possibly damaging |
Het |
| Prrt4 |
T |
C |
6: 29,169,996 (GRCm39) |
M819V |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,055,914 (GRCm39) |
S759P |
probably damaging |
Het |
| Rnf13 |
A |
G |
3: 57,741,165 (GRCm39) |
E318G |
possibly damaging |
Het |
| Selenon |
T |
C |
4: 134,272,829 (GRCm39) |
N203S |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,169,147 (GRCm39) |
T1096I |
probably benign |
Het |
| Vwf |
T |
G |
6: 125,661,101 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Syt13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02236:Syt13
|
APN |
2 |
92,771,210 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02332:Syt13
|
APN |
2 |
92,771,149 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0345:Syt13
|
UTSW |
2 |
92,776,412 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0367:Syt13
|
UTSW |
2 |
92,745,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1160:Syt13
|
UTSW |
2 |
92,773,387 (GRCm39) |
splice site |
probably null |
|
|
R1635:Syt13
|
UTSW |
2 |
92,783,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1639:Syt13
|
UTSW |
2 |
92,776,316 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1844:Syt13
|
UTSW |
2 |
92,771,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1869:Syt13
|
UTSW |
2 |
92,776,448 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2032:Syt13
|
UTSW |
2 |
92,783,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2306:Syt13
|
UTSW |
2 |
92,771,312 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2375:Syt13
|
UTSW |
2 |
92,776,496 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4958:Syt13
|
UTSW |
2 |
92,783,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5341:Syt13
|
UTSW |
2 |
92,783,897 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7605:Syt13
|
UTSW |
2 |
92,773,478 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7921:Syt13
|
UTSW |
2 |
92,783,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8198:Syt13
|
UTSW |
2 |
92,783,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9498:Syt13
|
UTSW |
2 |
92,781,749 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R9621:Syt13
|
UTSW |
2 |
92,745,575 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
X0024:Syt13
|
UTSW |
2 |
92,773,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Syt13
|
UTSW |
2 |
92,771,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation