Incidental Mutation 'R5170:Stxbp1'
| ID |
397487 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stxbp1
|
| Ensembl Gene |
ENSMUSG00000026797 |
| Gene Name |
syntaxin binding protein 1 |
| Synonyms |
Munc-18a, Sxtbp1, N-sec1, nsec1, Munc18-1, Rb-sec1, Unc18h |
| MMRRC Submission |
042750-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.635)
|
| Stock # |
R5170 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32677619-32737249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32684686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 581
(D581G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050000]
[ENSMUST00000077458]
|
| AlphaFold |
O08599 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050000
|
| SMART Domains |
Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077458
AA Change: D581G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: D581G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
29 |
581 |
2.8e-110 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000113222
|
| SMART Domains |
Protein: ENSMUSP00000108848
Gene: ENSMUSG00000026797
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
1 |
419 |
1.7e-106 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a null allele exhibit total loss of neurotransmitter secretion from synaptic vesicles throughout development and massive neuron apoptosis after initial synaptogenesis, leading to widespread neurodegeneration and complete neonatal lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox3 |
A |
G |
5: 35,745,969 (GRCm39) |
I51V |
probably benign |
Het |
| Agbl2 |
A |
G |
2: 90,633,541 (GRCm39) |
K559R |
probably benign |
Het |
| Arhgap30 |
A |
G |
1: 171,235,618 (GRCm39) |
D664G |
probably benign |
Het |
| BC034090 |
A |
G |
1: 155,089,396 (GRCm39) |
V798A |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,167,302 (GRCm39) |
C2237* |
probably null |
Het |
| C3 |
C |
T |
17: 57,530,938 (GRCm39) |
V388M |
probably damaging |
Het |
| Ccdc170 |
G |
A |
10: 4,464,200 (GRCm39) |
E60K |
probably damaging |
Het |
| Cdh8 |
G |
A |
8: 100,006,182 (GRCm39) |
T135M |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 119,961,435 (GRCm39) |
A572E |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,559,655 (GRCm39) |
Y976C |
probably benign |
Het |
| Cplx3 |
G |
A |
9: 57,522,902 (GRCm39) |
R153* |
probably null |
Het |
| Defa41 |
A |
T |
8: 21,691,696 (GRCm39) |
D26V |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Eno3 |
A |
G |
11: 70,553,040 (GRCm39) |
I393V |
probably benign |
Het |
| Fbxo47 |
A |
G |
11: 97,748,520 (GRCm39) |
V305A |
probably benign |
Het |
| Fry |
G |
A |
5: 150,353,319 (GRCm39) |
V1779M |
probably benign |
Het |
| Gtse1 |
T |
C |
15: 85,748,465 (GRCm39) |
|
probably null |
Het |
| Gucy2e |
A |
T |
11: 69,126,396 (GRCm39) |
L328Q |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,558,064 (GRCm39) |
T225A |
unknown |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Lamc3 |
A |
T |
2: 31,777,356 (GRCm39) |
M1L |
probably benign |
Het |
| Myo16 |
A |
G |
8: 10,619,745 (GRCm39) |
D1432G |
probably benign |
Het |
| Nwd2 |
A |
T |
5: 63,963,380 (GRCm39) |
N988I |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Parp14 |
T |
C |
16: 35,677,649 (GRCm39) |
E773G |
probably benign |
Het |
| Psen1 |
T |
A |
12: 83,761,636 (GRCm39) |
M146K |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,342,152 (GRCm39) |
R209Q |
probably benign |
Het |
| Slc13a2 |
T |
C |
11: 78,291,634 (GRCm39) |
T340A |
probably damaging |
Het |
| St8sia1 |
T |
C |
6: 142,909,434 (GRCm39) |
K21E |
probably damaging |
Het |
| Sumo2 |
G |
A |
11: 115,425,486 (GRCm39) |
|
probably benign |
Het |
| Supt5 |
G |
A |
7: 28,015,508 (GRCm39) |
P910S |
probably benign |
Het |
| Tbc1d30 |
T |
C |
10: 121,142,743 (GRCm39) |
Q158R |
possibly damaging |
Het |
| Tenm2 |
T |
A |
11: 35,915,633 (GRCm39) |
H1968L |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,421,861 (GRCm39) |
Y220H |
probably damaging |
Het |
| Trp73 |
C |
T |
4: 154,189,295 (GRCm39) |
E60K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,617,413 (GRCm39) |
Y8026H |
probably damaging |
Het |
| Zar1l |
A |
G |
5: 150,441,050 (GRCm39) |
|
probably null |
Het |
| Zfp740 |
T |
C |
15: 102,117,640 (GRCm39) |
Y117H |
probably damaging |
Het |
| Zfp941 |
G |
A |
7: 140,392,870 (GRCm39) |
|
probably benign |
Het |
| Zp1 |
C |
A |
19: 10,897,918 (GRCm39) |
V8F |
possibly damaging |
Het |
|
| Other mutations in Stxbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01989:Stxbp1
|
APN |
2 |
32,702,076 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02743:Stxbp1
|
APN |
2 |
32,709,913 (GRCm39) |
missense |
probably damaging |
0.98 |
|
volume
|
UTSW |
2 |
32,691,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
volume2
|
UTSW |
2 |
32,691,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
P0021:Stxbp1
|
UTSW |
2 |
32,713,550 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0217:Stxbp1
|
UTSW |
2 |
32,691,882 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0269:Stxbp1
|
UTSW |
2 |
32,692,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0285:Stxbp1
|
UTSW |
2 |
32,713,554 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0335:Stxbp1
|
UTSW |
2 |
32,692,917 (GRCm39) |
splice site |
probably benign |
|
|
R0565:Stxbp1
|
UTSW |
2 |
32,709,860 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0617:Stxbp1
|
UTSW |
2 |
32,692,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:Stxbp1
|
UTSW |
2 |
32,690,707 (GRCm39) |
splice site |
probably benign |
|
|
R1022:Stxbp1
|
UTSW |
2 |
32,704,979 (GRCm39) |
splice site |
probably null |
|
|
R1024:Stxbp1
|
UTSW |
2 |
32,704,979 (GRCm39) |
splice site |
probably null |
|
|
R1295:Stxbp1
|
UTSW |
2 |
32,684,648 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1296:Stxbp1
|
UTSW |
2 |
32,684,648 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1472:Stxbp1
|
UTSW |
2 |
32,684,648 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1699:Stxbp1
|
UTSW |
2 |
32,690,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1744:Stxbp1
|
UTSW |
2 |
32,696,731 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2004:Stxbp1
|
UTSW |
2 |
32,688,201 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2151:Stxbp1
|
UTSW |
2 |
32,692,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Stxbp1
|
UTSW |
2 |
32,692,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Stxbp1
|
UTSW |
2 |
32,692,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6083:Stxbp1
|
UTSW |
2 |
32,686,030 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6295:Stxbp1
|
UTSW |
2 |
32,684,621 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6504:Stxbp1
|
UTSW |
2 |
32,691,895 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6770:Stxbp1
|
UTSW |
2 |
32,709,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6954:Stxbp1
|
UTSW |
2 |
32,691,905 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7283:Stxbp1
|
UTSW |
2 |
32,705,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7382:Stxbp1
|
UTSW |
2 |
32,688,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7541:Stxbp1
|
UTSW |
2 |
32,708,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7734:Stxbp1
|
UTSW |
2 |
32,691,832 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8364:Stxbp1
|
UTSW |
2 |
32,696,774 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R8462:Stxbp1
|
UTSW |
2 |
32,707,293 (GRCm39) |
splice site |
probably null |
|
|
R9143:Stxbp1
|
UTSW |
2 |
32,688,157 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9246:Stxbp1
|
UTSW |
2 |
32,679,586 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9267:Stxbp1
|
UTSW |
2 |
32,708,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9501:Stxbp1
|
UTSW |
2 |
32,692,825 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9600:Stxbp1
|
UTSW |
2 |
32,701,120 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
RF010:Stxbp1
|
UTSW |
2 |
32,711,927 (GRCm39) |
missense |
probably benign |
0.06 |
|
X0060:Stxbp1
|
UTSW |
2 |
32,692,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Stxbp1
|
UTSW |
2 |
32,699,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Stxbp1
|
UTSW |
2 |
32,692,766 (GRCm39) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGCATTAAGAACCGCAAGC -3'
(R):5'- CATGCCTGCATACGTGTGTG -3'
Sequencing Primer
(F):5'- GAACCGCAAGCATTTTCTTGG -3'
(R):5'- CATACGTGTGTGCATGTGCCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation