Incidental Mutation 'R4477:Syt9'
ID |
331316 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Syt9
|
Ensembl Gene |
ENSMUSG00000062542 |
Gene Name |
synaptotagmin IX |
Synonyms |
Sytv |
MMRRC Submission |
041734-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4477 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
106969935-107147863 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107024428 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 107
(N107S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073459]
[ENSMUST00000130414]
[ENSMUST00000137663]
|
AlphaFold |
Q9R0N9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073459
AA Change: N107S
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000073164 Gene: ENSMUSG00000062542 AA Change: N107S
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 damaging
Transcript: ENSMUST00000130414
AA Change: N107S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000122049 Gene: ENSMUSG00000062542 AA Change: N107S
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 |
|
Meta Mutation Damage Score |
0.0715 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
93% (39/42) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg4 |
A |
G |
9: 44,186,383 (GRCm39) |
S549P |
probably damaging |
Het |
Agfg1 |
T |
C |
1: 82,853,061 (GRCm39) |
S75P |
probably damaging |
Het |
AK157302 |
T |
A |
13: 21,679,861 (GRCm39) |
V129E |
possibly damaging |
Het |
Angpt1 |
A |
G |
15: 42,331,560 (GRCm39) |
Y344H |
probably damaging |
Het |
Ap1m2 |
A |
G |
9: 21,209,509 (GRCm39) |
V389A |
probably benign |
Het |
Bicd2 |
T |
A |
13: 49,531,448 (GRCm39) |
I230N |
probably damaging |
Het |
C5ar1 |
T |
C |
7: 15,982,789 (GRCm39) |
N77S |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,607,200 (GRCm39) |
V1235M |
possibly damaging |
Het |
Cdh15 |
A |
G |
8: 123,591,415 (GRCm39) |
H517R |
probably benign |
Het |
D130040H23Rik |
C |
A |
8: 69,755,155 (GRCm39) |
H187N |
possibly damaging |
Het |
Dbn1 |
CCCGCTCCCGGTAGCGCCGCTC |
CCCGCTC |
13: 55,629,374 (GRCm39) |
|
probably benign |
Het |
Eif4g1 |
G |
T |
16: 20,497,593 (GRCm39) |
|
probably benign |
Het |
Fmn1 |
T |
A |
2: 113,274,744 (GRCm39) |
|
probably benign |
Het |
Gm3159 |
T |
C |
14: 4,398,584 (GRCm38) |
Y92H |
probably damaging |
Het |
Gm7138 |
A |
T |
10: 77,612,246 (GRCm39) |
|
probably benign |
Het |
Ift172 |
C |
T |
5: 31,422,781 (GRCm39) |
A890T |
probably benign |
Het |
Inpp5j |
T |
C |
11: 3,451,625 (GRCm39) |
T426A |
probably damaging |
Het |
Katna1 |
T |
C |
10: 7,614,594 (GRCm39) |
V32A |
probably damaging |
Het |
Lrrc71 |
G |
C |
3: 87,649,972 (GRCm39) |
R319G |
probably damaging |
Het |
Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
Mmp19 |
A |
T |
10: 128,631,506 (GRCm39) |
T129S |
probably benign |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Neo1 |
T |
C |
9: 58,784,582 (GRCm39) |
D1458G |
probably damaging |
Het |
Nup35 |
T |
C |
2: 80,487,487 (GRCm39) |
|
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Pdlim5 |
C |
T |
3: 141,964,978 (GRCm39) |
S417N |
probably benign |
Het |
Pla2g4f |
A |
G |
2: 120,134,153 (GRCm39) |
S478P |
probably damaging |
Het |
Plekhn1 |
G |
A |
4: 156,307,856 (GRCm39) |
R357W |
probably damaging |
Het |
Pom121 |
T |
C |
5: 135,410,842 (GRCm39) |
T772A |
unknown |
Het |
Pramel20 |
A |
G |
4: 143,297,732 (GRCm39) |
I51V |
probably benign |
Het |
Rasgef1a |
A |
T |
6: 118,062,436 (GRCm39) |
H232L |
possibly damaging |
Het |
Sdad1 |
A |
G |
5: 92,445,019 (GRCm39) |
M315T |
probably damaging |
Het |
Traf3 |
T |
C |
12: 111,215,036 (GRCm39) |
S202P |
probably benign |
Het |
Vmn2r9 |
T |
C |
5: 108,994,143 (GRCm39) |
E502G |
probably benign |
Het |
Vps8 |
A |
T |
16: 21,363,986 (GRCm39) |
|
probably benign |
Het |
Zfp770 |
G |
A |
2: 114,027,365 (GRCm39) |
L235F |
probably 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 |
R2368:Syt9
|
UTSW |
7 |
107,035,906 (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 |
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'- TGAGCGACATCATCACACTGAC -3'
(R):5'- ACTACTGACCGAGCTGATGGTG -3'
Sequencing Primer
(F):5'- AGCGACATCATCACACTGACTTTTTC -3'
(R):5'- CCGAGCTGATGGTGTTGGC -3'
|
Posted On |
2015-07-21 |