Incidental Mutation 'IGL00508:Syt9'
ID |
14333 |
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 # |
IGL00508
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
106969935-107147863 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 107024574 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 156
(R156*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122049
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073459]
[ENSMUST00000130414]
[ENSMUST00000137663]
|
AlphaFold |
Q9R0N9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000073459
AA Change: R156*
|
SMART Domains |
Protein: ENSMUSP00000073164 Gene: ENSMUSG00000062542 AA Change: R156*
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 null
Transcript: ENSMUST00000130414
AA Change: R156*
|
SMART Domains |
Protein: ENSMUSP00000122049 Gene: ENSMUSG00000062542 AA Change: R156*
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
A |
C |
13: 81,654,306 (GRCm39) |
D2188E |
probably damaging |
Het |
Atrx |
A |
G |
X: 104,867,405 (GRCm39) |
S2026P |
probably damaging |
Het |
Cacna1b |
A |
C |
2: 24,547,301 (GRCm39) |
|
probably null |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,438,367 (GRCm39) |
|
probably null |
Het |
Ckap5 |
T |
G |
2: 91,436,601 (GRCm39) |
V1567G |
probably damaging |
Het |
Cyp2c38 |
A |
T |
19: 39,449,169 (GRCm39) |
Y61* |
probably null |
Het |
D130052B06Rik |
A |
G |
11: 33,549,402 (GRCm39) |
E7G |
unknown |
Het |
Dhx38 |
A |
G |
8: 110,283,566 (GRCm39) |
L527P |
possibly damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,163,701 (GRCm39) |
N653D |
probably benign |
Het |
Dnah8 |
T |
G |
17: 31,074,904 (GRCm39) |
M4541R |
probably damaging |
Het |
Dpyd |
A |
T |
3: 118,858,636 (GRCm39) |
T617S |
probably benign |
Het |
Fpr2 |
A |
T |
17: 18,113,034 (GRCm39) |
N10I |
probably damaging |
Het |
Frmd4a |
A |
T |
2: 4,599,545 (GRCm39) |
K524* |
probably null |
Het |
Gpr45 |
C |
T |
1: 43,071,452 (GRCm39) |
P32S |
possibly damaging |
Het |
H2-Eb2 |
A |
T |
17: 34,553,341 (GRCm39) |
I176F |
probably damaging |
Het |
Hcrtr1 |
T |
A |
4: 130,031,062 (GRCm39) |
N74I |
probably damaging |
Het |
Ifi47 |
C |
T |
11: 48,986,241 (GRCm39) |
Q3* |
probably null |
Het |
Krt8 |
T |
A |
15: 101,906,460 (GRCm39) |
M350L |
probably benign |
Het |
Lilra6 |
A |
G |
7: 3,914,553 (GRCm39) |
S533P |
probably benign |
Het |
Map1b |
A |
T |
13: 99,565,741 (GRCm39) |
S2327T |
unknown |
Het |
Mcoln3 |
T |
A |
3: 145,839,683 (GRCm39) |
I345N |
probably damaging |
Het |
Mettl3 |
C |
A |
14: 52,532,436 (GRCm39) |
|
probably benign |
Het |
Mgat4a |
G |
A |
1: 37,488,204 (GRCm39) |
R472* |
probably null |
Het |
Micall1 |
A |
G |
15: 79,014,768 (GRCm39) |
K715E |
probably damaging |
Het |
Pak1 |
G |
T |
7: 97,503,775 (GRCm39) |
G37C |
probably benign |
Het |
Pomt2 |
T |
G |
12: 87,166,401 (GRCm39) |
H426P |
probably damaging |
Het |
Pou2f3 |
G |
A |
9: 43,051,258 (GRCm39) |
P155S |
probably benign |
Het |
Psg25 |
A |
G |
7: 18,263,656 (GRCm39) |
Y56H |
probably benign |
Het |
Rab9 |
G |
T |
X: 165,240,860 (GRCm39) |
Y150* |
probably null |
Het |
Rhox2g |
T |
A |
X: 36,824,463 (GRCm39) |
N152I |
probably damaging |
Het |
Sema6d |
T |
C |
2: 124,498,844 (GRCm39) |
|
probably benign |
Het |
Simc1 |
C |
A |
13: 54,672,989 (GRCm39) |
Q446K |
probably benign |
Het |
Svs5 |
G |
T |
2: 164,078,962 (GRCm39) |
T315K |
possibly damaging |
Het |
Tmem260 |
A |
T |
14: 48,746,578 (GRCm39) |
Y618F |
probably damaging |
Het |
Wdr44 |
A |
G |
X: 23,666,783 (GRCm39) |
I719V |
possibly damaging |
Het |
Zfp518a |
T |
G |
19: 40,901,914 (GRCm39) |
I614M |
probably damaging |
Het |
|
Other mutations in Syt9 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |