Incidental Mutation 'R2368:Syt9'
ID |
246400 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syt9
|
Ensembl Gene |
ENSMUSG00000062542 |
Gene Name |
synaptotagmin IX |
Synonyms |
Sytv |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2368 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
106969935-107147863 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 107035906 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 308
(Y308N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073459]
[ENSMUST00000130414]
[ENSMUST00000137663]
|
AlphaFold |
Q9R0N9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073459
AA Change: Y308N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000073164 Gene: ENSMUSG00000062542 AA Change: Y308N
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
Blast:C2
|
53 |
166 |
7e-54 |
BLAST |
C2
|
236 |
339 |
1.8e-26 |
SMART |
C2
|
368 |
482 |
1.6e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000130414
|
SMART Domains |
Protein: ENSMUSP00000122049 Gene: ENSMUSG00000062542
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
49 |
N/A |
INTRINSIC |
Blast:C2
|
53 |
166 |
3e-57 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137663
|
SMART Domains |
Protein: ENSMUSP00000117969 Gene: ENSMUSG00000062542
Domain | Start | End | E-Value | Type |
low complexity region
|
37 |
48 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit 50% embryonic lethality while cre-mediated removal of a conditional allele impairs inhibitions of postsynaptic currents. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid2 |
A |
G |
15: 96,247,893 (GRCm39) |
K102E |
possibly damaging |
Het |
Bsn |
G |
A |
9: 107,988,229 (GRCm39) |
Q2508* |
probably null |
Het |
Cc2d2a |
A |
G |
5: 43,861,230 (GRCm39) |
T549A |
probably benign |
Het |
Lyst |
A |
T |
13: 13,871,248 (GRCm39) |
S2662C |
probably damaging |
Het |
Nek9 |
A |
G |
12: 85,376,661 (GRCm39) |
V240A |
possibly damaging |
Het |
Nol4l |
T |
C |
2: 153,259,959 (GRCm39) |
D165G |
probably damaging |
Het |
Or10ak12 |
A |
G |
4: 118,667,019 (GRCm39) |
V14A |
probably benign |
Het |
Or14j5 |
A |
T |
17: 38,161,509 (GRCm39) |
M9L |
probably benign |
Het |
Or5p69 |
A |
G |
7: 107,967,576 (GRCm39) |
Y293C |
probably damaging |
Het |
Or8h8 |
A |
T |
2: 86,753,451 (GRCm39) |
Y142N |
probably benign |
Het |
Plin5 |
T |
C |
17: 56,422,588 (GRCm39) |
E116G |
probably damaging |
Het |
Slc35d2 |
C |
T |
13: 64,277,119 (GRCm39) |
M1I |
probably null |
Het |
Srgap1 |
A |
T |
10: 121,665,194 (GRCm39) |
S493T |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r74 |
C |
T |
7: 85,610,522 (GRCm39) |
D57N |
probably benign |
Het |
Vstm5 |
A |
T |
9: 15,169,027 (GRCm39) |
M166L |
probably benign |
Het |
Zbtb12 |
T |
C |
17: 35,114,674 (GRCm39) |
L153P |
possibly damaging |
Het |
|
Other mutations in Syt9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00508:Syt9
|
APN |
7 |
107,024,574 (GRCm39) |
nonsense |
probably null |
|
IGL00541:Syt9
|
APN |
7 |
107,101,387 (GRCm39) |
missense |
probably null |
1.00 |
IGL01161:Syt9
|
APN |
7 |
107,024,356 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01705:Syt9
|
APN |
7 |
107,035,559 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02567:Syt9
|
APN |
7 |
107,035,868 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03268:Syt9
|
APN |
7 |
107,035,612 (GRCm39) |
missense |
probably benign |
0.01 |
R0684:Syt9
|
UTSW |
7 |
107,024,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R0743:Syt9
|
UTSW |
7 |
107,035,768 (GRCm39) |
missense |
probably damaging |
0.97 |
R0835:Syt9
|
UTSW |
7 |
107,105,737 (GRCm39) |
missense |
probably benign |
0.30 |
R0884:Syt9
|
UTSW |
7 |
107,035,768 (GRCm39) |
missense |
probably damaging |
0.97 |
R1114:Syt9
|
UTSW |
7 |
107,024,562 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1502:Syt9
|
UTSW |
7 |
107,035,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R1885:Syt9
|
UTSW |
7 |
107,035,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R1962:Syt9
|
UTSW |
7 |
107,024,314 (GRCm39) |
missense |
probably damaging |
1.00 |
R2421:Syt9
|
UTSW |
7 |
107,035,988 (GRCm39) |
missense |
probably benign |
0.39 |
R4134:Syt9
|
UTSW |
7 |
107,035,630 (GRCm39) |
missense |
probably benign |
0.22 |
R4477:Syt9
|
UTSW |
7 |
107,024,428 (GRCm39) |
missense |
probably damaging |
1.00 |
R4602:Syt9
|
UTSW |
7 |
107,035,594 (GRCm39) |
nonsense |
probably null |
|
R4685:Syt9
|
UTSW |
7 |
107,035,678 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4977:Syt9
|
UTSW |
7 |
107,103,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R5141:Syt9
|
UTSW |
7 |
107,103,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R5421:Syt9
|
UTSW |
7 |
107,024,563 (GRCm39) |
missense |
probably benign |
0.00 |
R5440:Syt9
|
UTSW |
7 |
107,101,330 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5633:Syt9
|
UTSW |
7 |
107,024,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R5978:Syt9
|
UTSW |
7 |
107,035,620 (GRCm39) |
missense |
probably benign |
0.02 |
R6260:Syt9
|
UTSW |
7 |
107,035,717 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6733:Syt9
|
UTSW |
7 |
107,024,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6889:Syt9
|
UTSW |
7 |
107,024,493 (GRCm39) |
missense |
probably damaging |
0.99 |
R7572:Syt9
|
UTSW |
7 |
107,035,784 (GRCm39) |
missense |
probably damaging |
1.00 |
R8080:Syt9
|
UTSW |
7 |
107,035,997 (GRCm39) |
missense |
probably benign |
|
X0018:Syt9
|
UTSW |
7 |
107,105,781 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAGCCGTCAATCTGCCTGC -3'
(R):5'- TTCCCAAATAACACGTGTAAGCAG -3'
Sequencing Primer
(F):5'- CCAAGGACTTCTCTGGGACTTCAG -3'
(R):5'- ACACGTGTAAGCAGTCTGTTTC -3'
|
Posted On |
2014-10-30 |