Incidental Mutation 'IGL01705:Syt9'
ID |
104559 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Syt9
|
Ensembl Gene |
ENSMUSG00000062542 |
Gene Name |
synaptotagmin IX |
Synonyms |
Sytv |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01705
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
106969935-107147863 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 107035559 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 192
(L192R)
|
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: L192R
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000073164 Gene: ENSMUSG00000062542 AA Change: L192R
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 |
|
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 |
Adamts19 |
A |
G |
18: 59,166,038 (GRCm39) |
T1077A |
possibly damaging |
Het |
Akap13 |
T |
C |
7: 75,396,515 (GRCm39) |
V2504A |
possibly damaging |
Het |
Anks3 |
A |
T |
16: 4,765,587 (GRCm39) |
W172R |
probably benign |
Het |
Asap2 |
T |
A |
12: 21,299,369 (GRCm39) |
N633K |
possibly damaging |
Het |
Astn1 |
A |
T |
1: 158,331,883 (GRCm39) |
S326C |
probably damaging |
Het |
Cachd1 |
A |
G |
4: 100,840,736 (GRCm39) |
K900E |
possibly damaging |
Het |
Cd5 |
A |
T |
19: 10,703,659 (GRCm39) |
|
probably null |
Het |
D130043K22Rik |
T |
A |
13: 25,041,924 (GRCm39) |
N284K |
probably benign |
Het |
Dtna |
C |
T |
18: 23,678,788 (GRCm39) |
A38V |
probably damaging |
Het |
Eny2 |
C |
A |
15: 44,295,831 (GRCm39) |
|
probably null |
Het |
Grm5 |
A |
G |
7: 87,779,254 (GRCm39) |
Q930R |
possibly damaging |
Het |
Igkv4-73 |
A |
T |
6: 69,174,709 (GRCm39) |
|
noncoding transcript |
Het |
Lama2 |
A |
T |
10: 27,065,270 (GRCm39) |
|
probably benign |
Het |
Lipg |
A |
G |
18: 75,081,042 (GRCm39) |
|
probably null |
Het |
Neto2 |
T |
C |
8: 86,367,632 (GRCm39) |
K371E |
probably damaging |
Het |
Or8g52 |
T |
C |
9: 39,630,877 (GRCm39) |
M118T |
possibly damaging |
Het |
Paxbp1 |
A |
G |
16: 90,813,876 (GRCm39) |
F834L |
probably benign |
Het |
Paxip1 |
A |
T |
5: 27,953,857 (GRCm39) |
S946R |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,727,879 (GRCm39) |
|
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,308,401 (GRCm39) |
L331P |
probably damaging |
Het |
Reep1 |
A |
G |
6: 71,750,272 (GRCm39) |
T95A |
probably damaging |
Het |
Rfx2 |
A |
G |
17: 57,092,303 (GRCm39) |
Y332H |
possibly damaging |
Het |
Smchd1 |
A |
T |
17: 71,688,393 (GRCm39) |
D1288E |
probably damaging |
Het |
Spag17 |
A |
G |
3: 99,930,046 (GRCm39) |
M582V |
probably benign |
Het |
Susd1 |
A |
G |
4: 59,332,931 (GRCm39) |
|
probably benign |
Het |
Tlr6 |
T |
C |
5: 65,111,473 (GRCm39) |
K478R |
probably benign |
Het |
Tmem115 |
G |
T |
9: 107,412,403 (GRCm39) |
L242F |
probably benign |
Het |
Tmt1b |
T |
A |
10: 128,794,731 (GRCm39) |
I198F |
probably benign |
Het |
Tnfaip1 |
T |
C |
11: 78,416,294 (GRCm39) |
D263G |
probably benign |
Het |
Ubqln3 |
T |
A |
7: 103,791,884 (GRCm39) |
I69F |
probably damaging |
Het |
Vps52 |
T |
C |
17: 34,185,042 (GRCm39) |
L712P |
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 |
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 |
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 |
|
Posted On |
2014-01-21 |