Incidental Mutation 'IGL02807:Syt15'
| ID |
360458 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Syt15
|
| Ensembl Gene |
ENSMUSG00000041479 |
| Gene Name |
synaptotagmin XV |
| Synonyms |
sytXV, CHR10SYT, E230025K04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL02807
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
33941915-33952378 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 33944870 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 139
(G139D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035351]
[ENSMUST00000119693]
|
| AlphaFold |
Q8C6N3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035351
AA Change: G139D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000036755
Gene: ENSMUSG00000041479
AA Change: G139D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
C2
|
160 |
262 |
2.44e-10 |
SMART |
|
C2
|
291 |
397 |
6.01e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119693
AA Change: G139D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113725
Gene: ENSMUSG00000041479
AA Change: G139D
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
C2
|
160 |
262 |
2.44e-10 |
SMART |
|
C2
|
291 |
389 |
7.53e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147298
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227397
|
| 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 Synaptotagmin (Syt) family of membrane trafficking proteins. Members of this family contain a transmembrane region and a C-terminal-type tandem C2 domain. Unlike related family members, the encoded protein may be involved in membrane trafficking in non-neuronal tissues. Two trancript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
C |
A |
13: 70,886,897 (GRCm39) |
|
probably null |
Het |
| Ankra2 |
T |
C |
13: 98,408,250 (GRCm39) |
L73P |
probably damaging |
Het |
| Ankrd63 |
G |
T |
2: 118,533,789 (GRCm39) |
|
probably benign |
Het |
| Cars1 |
A |
T |
7: 143,123,209 (GRCm39) |
I469N |
possibly damaging |
Het |
| Chn2 |
A |
G |
6: 54,272,898 (GRCm39) |
E183G |
possibly damaging |
Het |
| Fstl4 |
A |
T |
11: 53,077,501 (GRCm39) |
T753S |
probably benign |
Het |
| Igf2r |
G |
T |
17: 12,938,770 (GRCm39) |
N511K |
probably damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,328,300 (GRCm39) |
I310N |
probably damaging |
Het |
| Kcnc3 |
C |
A |
7: 44,245,381 (GRCm39) |
P557Q |
probably damaging |
Het |
| Mrps36 |
A |
G |
13: 100,877,674 (GRCm39) |
|
probably null |
Het |
| Mug1 |
A |
G |
6: 121,863,531 (GRCm39) |
T1410A |
probably damaging |
Het |
| Nme8 |
C |
A |
13: 19,860,001 (GRCm39) |
|
probably benign |
Het |
| Or1l4 |
A |
C |
2: 37,091,586 (GRCm39) |
N111T |
probably damaging |
Het |
| Or4d11 |
A |
G |
19: 12,013,648 (GRCm39) |
F153L |
probably benign |
Het |
| Or51v14 |
A |
T |
7: 103,261,198 (GRCm39) |
S121T |
probably benign |
Het |
| Or8b36 |
C |
T |
9: 37,937,485 (GRCm39) |
P128S |
probably damaging |
Het |
| Pcm1 |
A |
G |
8: 41,783,919 (GRCm39) |
E2005G |
probably damaging |
Het |
| Phtf1 |
T |
G |
3: 103,904,869 (GRCm39) |
S506A |
probably benign |
Het |
| Plpp5 |
G |
T |
8: 26,211,192 (GRCm39) |
|
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 72,035,993 (GRCm39) |
|
probably benign |
Het |
| Trpm8 |
T |
C |
1: 88,275,830 (GRCm39) |
L476P |
probably damaging |
Het |
| Virma |
G |
A |
4: 11,507,079 (GRCm39) |
|
probably benign |
Het |
| Vmn1r170 |
T |
A |
7: 23,305,760 (GRCm39) |
I54N |
probably damaging |
Het |
| Vmn2r98 |
G |
A |
17: 19,301,283 (GRCm39) |
A762T |
probably damaging |
Het |
|
| Other mutations in Syt15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01069:Syt15
|
APN |
14 |
33,946,881 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02486:Syt15
|
APN |
14 |
33,944,933 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02559:Syt15
|
APN |
14 |
33,943,760 (GRCm39) |
missense |
probably benign |
|
|
R1403:Syt15
|
UTSW |
14 |
33,943,159 (GRCm39) |
splice site |
probably benign |
|
|
R1695:Syt15
|
UTSW |
14 |
33,944,858 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1993:Syt15
|
UTSW |
14 |
33,944,969 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2163:Syt15
|
UTSW |
14 |
33,948,073 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2214:Syt15
|
UTSW |
14 |
33,944,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3120:Syt15
|
UTSW |
14 |
33,944,950 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3978:Syt15
|
UTSW |
14 |
33,945,061 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4688:Syt15
|
UTSW |
14 |
33,950,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5214:Syt15
|
UTSW |
14 |
33,943,703 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6715:Syt15
|
UTSW |
14 |
33,944,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7731:Syt15
|
UTSW |
14 |
33,945,024 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8901:Syt15
|
UTSW |
14 |
33,948,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9466:Syt15
|
UTSW |
14 |
33,942,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Syt15
|
UTSW |
14 |
33,947,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation