Incidental Mutation 'R6715:Syt15'
| ID |
529304 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Syt15
|
| Ensembl Gene |
ENSMUSG00000041479 |
| Gene Name |
synaptotagmin XV |
| Synonyms |
sytXV, CHR10SYT, E230025K04Rik |
| MMRRC Submission |
044833-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R6715 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
33941915-33952378 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 33944819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 122
(G122V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035351]
[ENSMUST00000119693]
|
| AlphaFold |
Q8C6N3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035351
AA Change: G122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000036755
Gene: ENSMUSG00000041479
AA Change: G122V
| 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 damaging
Transcript: ENSMUST00000119693
AA Change: G122V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113725
Gene: ENSMUSG00000041479
AA Change: G122V
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.9%
|
| Validation Efficiency |
100% (35/35) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
G |
A |
12: 88,425,850 (GRCm39) |
R426H |
probably damaging |
Het |
| Arl2 |
G |
A |
19: 6,187,555 (GRCm39) |
R98C |
probably damaging |
Het |
| Atm |
A |
G |
9: 53,442,948 (GRCm39) |
I105T |
probably damaging |
Het |
| Cnnm2 |
G |
A |
19: 46,842,412 (GRCm39) |
G565E |
probably damaging |
Het |
| Ddx60 |
G |
A |
8: 62,436,924 (GRCm39) |
G958D |
probably benign |
Het |
| Fbxo2 |
T |
A |
4: 148,250,226 (GRCm39) |
M252K |
probably benign |
Het |
| Filip1 |
C |
A |
9: 79,726,040 (GRCm39) |
A860S |
probably benign |
Het |
| Gm11992 |
C |
A |
11: 9,011,214 (GRCm39) |
S218R |
probably damaging |
Het |
| Gnb3 |
A |
G |
6: 124,814,691 (GRCm39) |
L69P |
possibly damaging |
Het |
| Gpr18 |
T |
G |
14: 122,149,389 (GRCm39) |
H212P |
possibly damaging |
Het |
| Iqcb1 |
T |
C |
16: 36,655,991 (GRCm39) |
F126S |
probably damaging |
Het |
| Katnip |
C |
T |
7: 125,361,001 (GRCm39) |
Q104* |
probably null |
Het |
| Kcnh1 |
A |
G |
1: 192,019,949 (GRCm39) |
D425G |
probably benign |
Het |
| Kdm5b |
T |
A |
1: 134,536,799 (GRCm39) |
|
probably null |
Het |
| Mcm3ap |
C |
T |
10: 76,325,366 (GRCm39) |
T989M |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,623,004 (GRCm39) |
C1999R |
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Myof |
A |
T |
19: 37,956,794 (GRCm39) |
D508E |
probably benign |
Het |
| Or52b2 |
A |
T |
7: 104,986,539 (GRCm39) |
I128N |
probably damaging |
Het |
| Or56b2j |
G |
A |
7: 104,353,163 (GRCm39) |
V130M |
possibly damaging |
Het |
| Or5l13 |
T |
A |
2: 87,780,335 (GRCm39) |
M81L |
probably benign |
Het |
| Osbpl7 |
A |
G |
11: 96,945,425 (GRCm39) |
H266R |
probably damaging |
Het |
| Pear1 |
T |
C |
3: 87,666,424 (GRCm39) |
Y93C |
probably damaging |
Het |
| Pgr |
A |
G |
9: 8,965,000 (GRCm39) |
H881R |
possibly damaging |
Het |
| Rfx1 |
A |
G |
8: 84,822,444 (GRCm39) |
E914G |
possibly damaging |
Het |
| Samm50 |
T |
C |
15: 84,095,259 (GRCm39) |
I415T |
probably benign |
Het |
| Snx7 |
T |
C |
3: 117,575,985 (GRCm39) |
D434G |
possibly damaging |
Het |
| Susd4 |
G |
A |
1: 182,719,602 (GRCm39) |
V406M |
probably benign |
Het |
| Tlr5 |
A |
G |
1: 182,800,224 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,721,556 (GRCm39) |
|
probably null |
Het |
| Vmn1r211 |
C |
A |
13: 23,035,949 (GRCm39) |
M239I |
probably benign |
Het |
| Vps37a |
G |
T |
8: 40,993,902 (GRCm39) |
|
probably null |
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 |
|
|
IGL02807:Syt15
|
APN |
14 |
33,944,870 (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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCATCAGGAAACACGCC -3'
(R):5'- GTTCTCATCAAACTGTGGGTTAC -3'
Sequencing Primer
(F):5'- GGAAACACGCCCTGCTCTC -3'
(R):5'- TTCACCAAGGTGCTGCAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation