Incidental Mutation 'IGL00805:Stxbp3'
| ID |
14292 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stxbp3
|
| Ensembl Gene |
ENSMUSG00000027882 |
| Gene Name |
syntaxin binding protein 3 |
| Synonyms |
Stxbp3, Stxbp3a, Munc-18c |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00805
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
108700496-108747818 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 108723667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 189
(D189E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099681
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102621]
|
| AlphaFold |
Q60770 |
| PDB Structure |
Re-refinement of the crystal structure of Munc18-3 and Syntaxin4 N-peptide complex [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102621
AA Change: D189E
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: D189E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
33 |
576 |
5.9e-107 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000196679
AA Change: D181E
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex. [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 |
|---|
| 4930402F06Rik |
A |
T |
2: 35,270,422 (GRCm39) |
V93E |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,409,072 (GRCm39) |
I704V |
possibly damaging |
Het |
| Apcdd1 |
T |
A |
18: 63,066,936 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,772,521 (GRCm39) |
Y3737C |
probably benign |
Het |
| Ercc4 |
G |
T |
16: 12,939,868 (GRCm39) |
V43L |
possibly damaging |
Het |
| Jam2 |
T |
C |
16: 84,612,054 (GRCm39) |
|
probably benign |
Het |
| Mrpl3 |
T |
A |
9: 104,941,305 (GRCm39) |
V204E |
probably damaging |
Het |
| Ptpn13 |
T |
A |
5: 103,702,595 (GRCm39) |
M1187K |
probably benign |
Het |
| Sis |
C |
A |
3: 72,841,532 (GRCm39) |
R761I |
probably benign |
Het |
| Sos1 |
A |
G |
17: 80,705,953 (GRCm39) |
V1206A |
possibly damaging |
Het |
| T |
T |
A |
17: 8,655,997 (GRCm39) |
D86E |
probably benign |
Het |
| Tek |
A |
T |
4: 94,686,956 (GRCm39) |
N158I |
probably damaging |
Het |
|
| Other mutations in Stxbp3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01370:Stxbp3
|
APN |
3 |
108,704,741 (GRCm39) |
nonsense |
probably null |
|
|
IGL01810:Stxbp3
|
APN |
3 |
108,707,468 (GRCm39) |
missense |
probably benign |
0.35 |
|
IGL02583:Stxbp3
|
APN |
3 |
108,708,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02827:Stxbp3
|
APN |
3 |
108,717,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03022:Stxbp3
|
APN |
3 |
108,708,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03198:Stxbp3
|
APN |
3 |
108,734,405 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03410:Stxbp3
|
APN |
3 |
108,709,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
G1patch:Stxbp3
|
UTSW |
3 |
108,734,916 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0666:Stxbp3
|
UTSW |
3 |
108,712,618 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R3887:Stxbp3
|
UTSW |
3 |
108,712,549 (GRCm39) |
splice site |
probably null |
|
|
R4128:Stxbp3
|
UTSW |
3 |
108,702,147 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4683:Stxbp3
|
UTSW |
3 |
108,708,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5106:Stxbp3
|
UTSW |
3 |
108,702,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5307:Stxbp3
|
UTSW |
3 |
108,701,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6643:Stxbp3
|
UTSW |
3 |
108,701,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6722:Stxbp3
|
UTSW |
3 |
108,723,762 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6725:Stxbp3
|
UTSW |
3 |
108,734,916 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7110:Stxbp3
|
UTSW |
3 |
108,723,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7135:Stxbp3
|
UTSW |
3 |
108,708,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Stxbp3
|
UTSW |
3 |
108,708,125 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Stxbp3
|
UTSW |
3 |
108,708,144 (GRCm39) |
missense |
probably benign |
|
|
R8688:Stxbp3
|
UTSW |
3 |
108,709,425 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9048:Stxbp3
|
UTSW |
3 |
108,723,704 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9503:Stxbp3
|
UTSW |
3 |
108,710,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9523:Stxbp3
|
UTSW |
3 |
108,747,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0020:Stxbp3
|
UTSW |
3 |
108,701,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation