Incidental Mutation 'R1024:Stxbp1'
ID |
94688 |
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 |
039126-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.635)
|
Stock # |
R1024 (G1)
|
Quality Score |
128 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
32677619-32737249 bp(-) (GRCm39) |
Type of Mutation |
splice site (2335 bp from exon) |
DNA Base Change (assembly) |
T to C
at 32704979 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146437
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050000]
[ENSMUST00000077458]
[ENSMUST00000208840]
|
AlphaFold |
O08599 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050000
AA Change: M164V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052440 Gene: ENSMUSG00000026797 AA Change: M164V
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000077458
AA Change: M164V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000089051 Gene: ENSMUSG00000026797 AA Change: M164V
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
|
Predicted Effect |
probably null
Transcript: ENSMUST00000208840
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.6%
- 20x: 90.2%
|
Validation Efficiency |
90% (36/40) |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
C |
7: 75,327,157 (GRCm39) |
S719P |
probably damaging |
Het |
Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
Cacna2d2 |
T |
C |
9: 107,404,249 (GRCm39) |
|
probably null |
Het |
Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
Ccm2 |
T |
A |
11: 6,520,119 (GRCm39) |
Y56* |
probably null |
Het |
Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
Cdca8 |
A |
C |
4: 124,815,798 (GRCm39) |
S171R |
probably benign |
Het |
Cep192 |
C |
T |
18: 67,971,125 (GRCm39) |
T1042I |
probably benign |
Het |
Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
Cfap46 |
T |
A |
7: 139,222,513 (GRCm39) |
M1155L |
probably benign |
Het |
Cyp3a13 |
T |
A |
5: 137,892,626 (GRCm39) |
I473F |
possibly damaging |
Het |
Dclk3 |
A |
G |
9: 111,298,138 (GRCm39) |
I561V |
possibly damaging |
Het |
Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
Dsel |
A |
G |
1: 111,788,403 (GRCm39) |
S711P |
probably damaging |
Het |
Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
Gja8 |
A |
T |
3: 96,826,740 (GRCm39) |
F307L |
probably benign |
Het |
H1f7 |
G |
A |
15: 98,154,636 (GRCm39) |
T171I |
unknown |
Het |
Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
Izumo1 |
A |
G |
7: 45,276,598 (GRCm39) |
Y387C |
probably benign |
Het |
Kdm5a |
A |
G |
6: 120,375,999 (GRCm39) |
N585S |
probably null |
Het |
Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
Nipal1 |
CGGG |
CGG |
5: 72,825,334 (GRCm39) |
|
probably null |
Het |
Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
Nphs1 |
G |
T |
7: 30,173,702 (GRCm39) |
S939I |
probably damaging |
Het |
Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
Nutm1 |
A |
T |
2: 112,080,274 (GRCm39) |
I547N |
probably benign |
Het |
Oog2 |
A |
C |
4: 143,922,856 (GRCm39) |
T374P |
probably damaging |
Het |
Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
Or8b54 |
C |
A |
9: 38,686,631 (GRCm39) |
L27I |
probably damaging |
Het |
Otud4 |
T |
A |
8: 80,390,722 (GRCm39) |
M413K |
probably benign |
Het |
Pear1 |
A |
G |
3: 87,667,606 (GRCm39) |
|
probably benign |
Het |
Pla2g3 |
G |
A |
11: 3,438,551 (GRCm39) |
C67Y |
probably damaging |
Het |
Plxdc2 |
A |
G |
2: 16,716,917 (GRCm39) |
T334A |
probably benign |
Het |
Ppl |
G |
A |
16: 4,917,864 (GRCm39) |
R543W |
probably damaging |
Het |
Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
Rfpl4 |
G |
T |
7: 5,113,517 (GRCm39) |
D215E |
probably damaging |
Het |
Rnf146 |
T |
A |
10: 29,223,092 (GRCm39) |
R265* |
probably null |
Het |
Rpe65 |
T |
C |
3: 159,312,122 (GRCm39) |
I207T |
probably benign |
Het |
Rptn |
A |
G |
3: 93,305,532 (GRCm39) |
E955G |
possibly damaging |
Het |
Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
Slc25a36 |
A |
G |
9: 96,961,254 (GRCm39) |
Y261H |
probably damaging |
Het |
Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,240,390 (GRCm39) |
S114G |
probably damaging |
Het |
Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
Vill |
T |
C |
9: 118,895,892 (GRCm39) |
S151P |
probably damaging |
Het |
Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
probably damaging |
Het |
Wdfy4 |
T |
C |
14: 32,801,923 (GRCm39) |
T1912A |
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 |
|
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 |
|
Predicted Primers |
|
Posted On |
2014-01-05 |