Incidental Mutation 'IGL01989:Stxbp1'
ID |
182816 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stxbp1
|
Ensembl Gene |
ENSMUSG00000026797 |
Gene Name |
syntaxin binding protein 1 |
Synonyms |
Munc-18a, Sxtbp1, N-sec1, nsec1, Munc18-1, Rb-sec1, Unc18h |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.635)
|
Stock # |
IGL01989
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
32677619-32737249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32702076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 207
(D207G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050000]
[ENSMUST00000077458]
|
AlphaFold |
O08599 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050000
AA Change: D207G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000052440 Gene: ENSMUSG00000026797 AA Change: D207G
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077458
AA Change: D207G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000089051 Gene: ENSMUSG00000026797 AA Change: D207G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192333
|
Coding Region Coverage |
|
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
A |
T |
10: 28,862,266 (GRCm39) |
V8D |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,565,943 (GRCm39) |
T299A |
probably damaging |
Het |
Asph |
A |
T |
4: 9,602,462 (GRCm39) |
|
probably benign |
Het |
Cadm3 |
G |
A |
1: 173,165,578 (GRCm39) |
|
probably benign |
Het |
Cep164 |
G |
A |
9: 45,704,313 (GRCm39) |
|
probably benign |
Het |
Ces2c |
C |
A |
8: 105,576,375 (GRCm39) |
N129K |
probably damaging |
Het |
Chdh |
C |
A |
14: 29,753,688 (GRCm39) |
P199Q |
possibly damaging |
Het |
Dnah7b |
T |
C |
1: 46,328,694 (GRCm39) |
V3142A |
probably damaging |
Het |
Dnmbp |
A |
G |
19: 43,855,994 (GRCm39) |
L254P |
probably damaging |
Het |
Dock2 |
G |
T |
11: 34,218,053 (GRCm39) |
N1172K |
probably benign |
Het |
Dppa5a |
T |
A |
9: 78,275,103 (GRCm39) |
E66D |
probably benign |
Het |
F5 |
A |
G |
1: 164,003,876 (GRCm39) |
S224G |
probably benign |
Het |
Fign |
T |
C |
2: 63,810,794 (GRCm39) |
T159A |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,824,211 (GRCm39) |
D6648V |
probably damaging |
Het |
Gbp2b |
A |
T |
3: 142,317,201 (GRCm39) |
E519V |
probably benign |
Het |
Hdac10 |
A |
G |
15: 89,009,546 (GRCm39) |
L462P |
probably damaging |
Het |
Hecw2 |
A |
G |
1: 53,879,951 (GRCm39) |
L1286S |
probably damaging |
Het |
Hnrnpll |
A |
G |
17: 80,346,169 (GRCm39) |
V364A |
probably benign |
Het |
Hnrnpul2 |
A |
G |
19: 8,800,992 (GRCm39) |
T282A |
probably damaging |
Het |
Il12a |
T |
A |
3: 68,598,909 (GRCm39) |
|
probably benign |
Het |
Insl5 |
C |
A |
4: 102,883,838 (GRCm39) |
V28L |
probably benign |
Het |
Kcnj3 |
G |
A |
2: 55,327,243 (GRCm39) |
D11N |
probably benign |
Het |
Lrfn2 |
A |
G |
17: 49,378,113 (GRCm39) |
D398G |
probably damaging |
Het |
Lrp1 |
C |
T |
10: 127,413,998 (GRCm39) |
D1137N |
probably damaging |
Het |
Mettl18 |
C |
A |
1: 163,823,872 (GRCm39) |
D64E |
probably benign |
Het |
Mrpl3 |
A |
G |
9: 104,948,678 (GRCm39) |
T245A |
probably benign |
Het |
Mrps18c |
C |
A |
5: 100,949,775 (GRCm39) |
P52Q |
probably damaging |
Het |
Myh3 |
A |
T |
11: 66,977,481 (GRCm39) |
D377V |
probably damaging |
Het |
N4bp1 |
C |
A |
8: 87,575,115 (GRCm39) |
V727L |
probably damaging |
Het |
Npffr2 |
A |
G |
5: 89,730,831 (GRCm39) |
T254A |
probably benign |
Het |
Nsfl1c |
C |
A |
2: 151,342,649 (GRCm39) |
T73K |
probably damaging |
Het |
Or8a1b |
C |
T |
9: 37,623,132 (GRCm39) |
V148I |
probably damaging |
Het |
Plxna1 |
C |
T |
6: 89,306,396 (GRCm39) |
W1442* |
probably null |
Het |
Serpina3n |
T |
A |
12: 104,379,750 (GRCm39) |
M381K |
probably benign |
Het |
Shank3 |
C |
T |
15: 89,387,502 (GRCm39) |
|
probably benign |
Het |
Smtnl1 |
T |
C |
2: 84,648,814 (GRCm39) |
N147D |
probably benign |
Het |
Sprr2j-ps |
T |
C |
3: 92,326,412 (GRCm39) |
S96P |
unknown |
Het |
Ssh2 |
A |
G |
11: 77,344,511 (GRCm39) |
E832G |
possibly damaging |
Het |
Sult1c2 |
A |
T |
17: 54,281,055 (GRCm39) |
M16K |
probably benign |
Het |
Tmem247 |
A |
G |
17: 87,225,719 (GRCm39) |
E53G |
probably damaging |
Het |
Tmem86a |
A |
T |
7: 46,703,187 (GRCm39) |
I105F |
probably benign |
Het |
Tph2 |
A |
G |
10: 114,981,921 (GRCm39) |
S304P |
probably benign |
Het |
Ttn |
T |
C |
2: 76,608,883 (GRCm39) |
D17711G |
probably damaging |
Het |
Urb1 |
A |
T |
16: 90,566,474 (GRCm39) |
|
probably benign |
Het |
Vcan |
T |
A |
13: 89,837,478 (GRCm39) |
I1729L |
possibly damaging |
Het |
Vmn2r90 |
T |
A |
17: 17,933,494 (GRCm39) |
Y351* |
probably null |
Het |
Wfdc5 |
C |
T |
2: 164,020,651 (GRCm39) |
|
probably null |
Het |
Wnt3 |
G |
A |
11: 103,703,233 (GRCm39) |
D239N |
probably benign |
Het |
Zbtb8b |
T |
A |
4: 129,326,181 (GRCm39) |
E295V |
probably damaging |
Het |
Zfp458 |
T |
C |
13: 67,407,691 (GRCm39) |
T52A |
probably damaging |
Het |
|
Other mutations in Stxbp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R5170:Stxbp1
|
UTSW |
2 |
32,684,686 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
Posted On |
2014-05-07 |