Incidental Mutation 'IGL00541:Syt9'
| ID |
14334 |
| 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 # |
IGL00541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
106969935-107147863 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 107101387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 378
(N378Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000073164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073459]
[ENSMUST00000130414]
|
| AlphaFold |
Q9R0N9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073459
AA Change: N378Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073164
Gene: ENSMUSG00000062542
AA Change: N378Y
| 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 |
noncoding transcript
Transcript: ENSMUST00000127444
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000144003
|
| 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: 12 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bmp2k |
G |
A |
5: 97,211,407 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
T |
C |
1: 90,729,864 (GRCm39) |
H1207R |
possibly damaging |
Het |
| Efl1 |
T |
C |
7: 82,307,319 (GRCm39) |
S72P |
probably damaging |
Het |
| Fbxw9 |
A |
T |
8: 85,793,219 (GRCm39) |
I435F |
probably damaging |
Het |
| Gm9837 |
G |
A |
11: 53,361,079 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
C |
A |
10: 27,064,302 (GRCm39) |
L1226F |
probably benign |
Het |
| Nbea |
G |
A |
3: 55,875,510 (GRCm39) |
P1720L |
probably benign |
Het |
| Pira12 |
T |
A |
7: 3,900,385 (GRCm39) |
|
probably benign |
Het |
| Slco1a6 |
G |
T |
6: 142,042,025 (GRCm39) |
T517K |
possibly damaging |
Het |
| Sult2a2 |
T |
C |
7: 13,468,684 (GRCm39) |
L50P |
probably damaging |
Het |
| Tchh |
A |
G |
3: 93,353,557 (GRCm39) |
E999G |
unknown |
Het |
| Usp9x |
A |
G |
X: 13,007,985 (GRCm39) |
T1425A |
probably benign |
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 |
|
|
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 |
|
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 |
2012-12-06 |
Incidental Mutation