Incidental Mutation 'R4128:Stxbp3'
ID |
315469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stxbp3
|
Ensembl Gene |
ENSMUSG00000027882 |
Gene Name |
syntaxin binding protein 3 |
Synonyms |
Stxbp3, Stxbp3a, Munc-18c |
MMRRC Submission |
041635-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4128 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
108700496-108747818 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 108702147 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 553
(Q553R)
|
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: Q553R
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000099681 Gene: ENSMUSG00000027882 AA Change: Q553R
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
33 |
576 |
5.9e-107 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124782
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124903
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
Cavin2 |
A |
G |
1: 51,340,581 (GRCm39) |
*419W |
probably null |
Het |
Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
Csl |
T |
C |
10: 99,594,462 (GRCm39) |
D201G |
probably benign |
Het |
Erap1 |
T |
C |
13: 74,814,315 (GRCm39) |
I33T |
probably damaging |
Het |
Ermap |
T |
C |
4: 119,044,308 (GRCm39) |
T163A |
possibly damaging |
Het |
Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
Hsd17b14 |
G |
A |
7: 45,212,432 (GRCm39) |
V155M |
probably damaging |
Het |
Igf2bp2 |
C |
T |
16: 21,897,371 (GRCm39) |
V281I |
probably benign |
Het |
Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
Ireb2 |
T |
A |
9: 54,788,716 (GRCm39) |
D63E |
probably benign |
Het |
Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
Kcnj11 |
A |
G |
7: 45,749,143 (GRCm39) |
F60S |
probably damaging |
Het |
Lyplal1 |
A |
G |
1: 185,821,736 (GRCm39) |
C129R |
possibly damaging |
Het |
Mertk |
C |
T |
2: 128,619,358 (GRCm39) |
Q539* |
probably null |
Het |
Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
Narf |
G |
A |
11: 121,141,261 (GRCm39) |
|
probably null |
Het |
Neb |
C |
A |
2: 52,182,712 (GRCm39) |
L1051F |
probably damaging |
Het |
Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
Or10ab5 |
T |
C |
7: 108,245,633 (GRCm39) |
N50S |
probably benign |
Het |
Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
Rab39 |
T |
A |
9: 53,597,804 (GRCm39) |
I154L |
probably benign |
Het |
Rnf187 |
A |
T |
11: 58,824,883 (GRCm39) |
S220T |
probably benign |
Het |
Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
Unc13c |
C |
A |
9: 73,641,819 (GRCm39) |
A1225S |
probably damaging |
Het |
Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
Het |
|
Other mutations in Stxbp3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00805:Stxbp3
|
APN |
3 |
108,723,667 (GRCm39) |
missense |
probably benign |
0.05 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGTTTTAAAGGAGCAAGCTTAAGC -3'
(R):5'- TGAGTTTGAGATGCACGCC -3'
Sequencing Primer
(F):5'- GAGTATTAAAATACCAACCAGG -3'
(R):5'- CCGCGTGGCTTTGGGAG -3'
|
Posted On |
2015-05-14 |