Incidental Mutation 'R4134:Syt9'
ID |
314808 |
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 # |
R4134 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
106969935-107147863 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 107035630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 216
(S216G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000073164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073459]
[ENSMUST00000130414]
[ENSMUST00000137663]
|
AlphaFold |
Q9R0N9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000073459
AA Change: S216G
PolyPhen 2
Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000073164 Gene: ENSMUSG00000062542 AA Change: S216G
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: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ces1g |
T |
C |
8: 94,046,500 (GRCm39) |
T342A |
probably benign |
Het |
Clip2 |
A |
G |
5: 134,521,107 (GRCm39) |
V977A |
probably benign |
Het |
Cnot11 |
T |
C |
1: 39,576,629 (GRCm39) |
V211A |
probably benign |
Het |
Dcaf12l1 |
T |
C |
X: 43,878,330 (GRCm39) |
N156S |
probably damaging |
Het |
Dennd2d |
T |
A |
3: 106,389,977 (GRCm39) |
D2E |
probably benign |
Het |
F2 |
T |
C |
2: 91,459,553 (GRCm39) |
D410G |
possibly damaging |
Het |
Gabrb3 |
G |
T |
7: 57,241,036 (GRCm39) |
A5S |
probably benign |
Het |
Gcnt2 |
T |
A |
13: 41,041,283 (GRCm39) |
N147K |
probably damaging |
Het |
Greb1l |
T |
C |
18: 10,529,708 (GRCm39) |
|
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,715,430 (GRCm39) |
W38R |
probably damaging |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Hspg2 |
A |
T |
4: 137,283,968 (GRCm39) |
Q3446L |
probably damaging |
Het |
Htr5a |
A |
G |
5: 28,047,690 (GRCm39) |
M82V |
probably benign |
Het |
Itgb4 |
G |
T |
11: 115,897,296 (GRCm39) |
G1454V |
probably benign |
Het |
Lrrc9 |
T |
C |
12: 72,513,740 (GRCm39) |
S534P |
probably benign |
Het |
Nkx6-1 |
T |
A |
5: 101,807,371 (GRCm39) |
D337V |
probably damaging |
Het |
Npm2 |
C |
T |
14: 70,885,822 (GRCm39) |
E128K |
possibly damaging |
Het |
Nyap2 |
A |
G |
1: 81,218,908 (GRCm39) |
D310G |
probably damaging |
Het |
Or2l13b |
T |
A |
16: 19,349,452 (GRCm39) |
I73F |
possibly damaging |
Het |
Or4l1 |
T |
C |
14: 50,166,272 (GRCm39) |
H243R |
probably damaging |
Het |
Pum1 |
A |
T |
4: 130,491,380 (GRCm39) |
I770F |
probably damaging |
Het |
Rreb1 |
A |
T |
13: 38,131,099 (GRCm39) |
N1418Y |
probably damaging |
Het |
Tep1 |
G |
A |
14: 51,082,317 (GRCm39) |
H1120Y |
probably benign |
Het |
Ttn |
T |
A |
2: 76,715,138 (GRCm39) |
|
probably benign |
Het |
Vmn1r8 |
A |
G |
6: 57,013,705 (GRCm39) |
D252G |
probably benign |
Het |
Vwa5b1 |
A |
T |
4: 138,321,641 (GRCm39) |
M384K |
possibly damaging |
Het |
Zfhx2 |
G |
A |
14: 55,302,600 (GRCm39) |
P1795S |
possibly damaging |
Het |
Zfhx4 |
T |
C |
3: 5,308,687 (GRCm39) |
S638P |
probably damaging |
Het |
Zfp677 |
A |
G |
17: 21,618,043 (GRCm39) |
T367A |
probably benign |
Het |
Zfp729a |
C |
A |
13: 67,767,925 (GRCm39) |
C768F |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,190,369 (GRCm39) |
K180E |
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 |
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'- GCTCATGAGGTTTTAACTCTGC -3'
(R):5'- AACACAGGGTTCAGGGTCTTC -3'
Sequencing Primer
(F):5'- CATGAGGTTTTAACTCTGCTGTGTC -3'
(R):5'- AGGGTCTTCCTGTGAACTTTAGTC -3'
|
Posted On |
2015-05-14 |