Incidental Mutation 'R1295:Stxbp1'
| ID |
158041 |
| 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 |
039361-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.635)
|
| Stock # |
R1295 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32677619-32737249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32684648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 594
(S594T)
|
| 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: S594T
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: S594T
| 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 |
|
| Meta Mutation Damage Score |
0.1574 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.4%
- 10x: 93.1%
- 20x: 82.0%
|
| Validation Efficiency |
98% (81/83) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr2 |
A |
G |
9: 121,737,783 (GRCm39) |
S53G |
possibly damaging |
Het |
| Adgrb1 |
T |
A |
15: 74,421,888 (GRCm39) |
L886Q |
probably damaging |
Het |
| Adprhl1 |
G |
A |
8: 13,298,624 (GRCm39) |
T102M |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 52,933,812 (GRCm39) |
K435Q |
probably damaging |
Het |
| Aldh7a1 |
T |
C |
18: 56,680,022 (GRCm39) |
|
probably null |
Het |
| Amfr |
T |
C |
8: 94,701,432 (GRCm39) |
R507G |
probably benign |
Het |
| Ap1m1 |
T |
A |
8: 73,005,719 (GRCm39) |
|
probably null |
Het |
| Arhgap29 |
A |
G |
3: 121,786,044 (GRCm39) |
H275R |
probably benign |
Het |
| Arhgef17 |
C |
A |
7: 100,530,476 (GRCm39) |
E428* |
probably null |
Het |
| Atm |
A |
T |
9: 53,367,830 (GRCm39) |
V2431E |
probably damaging |
Het |
| Atn1 |
G |
T |
6: 124,724,750 (GRCm39) |
P161Q |
unknown |
Het |
| Atp13a2 |
T |
C |
4: 140,721,113 (GRCm39) |
S99P |
probably damaging |
Het |
| Ccar1 |
C |
A |
10: 62,619,661 (GRCm39) |
|
probably null |
Het |
| Cdk18 |
T |
C |
1: 132,047,698 (GRCm39) |
|
probably benign |
Het |
| Cep85 |
A |
G |
4: 133,894,711 (GRCm39) |
W32R |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,719,714 (GRCm39) |
F215S |
unknown |
Het |
| Decr1 |
T |
C |
4: 15,919,207 (GRCm39) |
N312S |
possibly damaging |
Het |
| Diaph3 |
A |
T |
14: 87,244,835 (GRCm39) |
W178R |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,075,752 (GRCm39) |
|
probably benign |
Het |
| Ehd3 |
C |
A |
17: 74,135,181 (GRCm39) |
D352E |
probably damaging |
Het |
| Enpp6 |
T |
G |
8: 47,518,535 (GRCm39) |
I221S |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,837,670 (GRCm39) |
|
probably benign |
Het |
| Gm5435 |
G |
T |
12: 82,542,558 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr22 |
A |
C |
12: 31,759,513 (GRCm39) |
I203S |
probably benign |
Het |
| Gpr61 |
A |
G |
3: 108,057,797 (GRCm39) |
V288A |
possibly damaging |
Het |
| Grik3 |
G |
A |
4: 125,598,357 (GRCm39) |
|
probably benign |
Het |
| Gstcd |
T |
C |
3: 132,711,389 (GRCm39) |
N431D |
probably damaging |
Het |
| H1f5 |
T |
C |
13: 21,964,169 (GRCm39) |
S186G |
probably benign |
Het |
| Haao |
T |
A |
17: 84,146,267 (GRCm39) |
Q69L |
probably benign |
Het |
| Ift140 |
G |
T |
17: 25,307,907 (GRCm39) |
|
probably null |
Het |
| Ikbke |
A |
G |
1: 131,197,963 (GRCm39) |
V381A |
probably benign |
Het |
| Ing1 |
T |
A |
8: 11,611,502 (GRCm39) |
I38N |
probably damaging |
Het |
| Ing1 |
A |
C |
8: 11,611,501 (GRCm39) |
I38L |
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,153,033 (GRCm39) |
M907V |
possibly damaging |
Het |
| Kcnk12 |
C |
T |
17: 88,053,801 (GRCm39) |
G287D |
probably damaging |
Het |
| Kmt2e |
A |
C |
5: 23,707,402 (GRCm39) |
H1655P |
probably damaging |
Het |
| Mbtd1 |
A |
G |
11: 93,801,185 (GRCm39) |
Y122C |
probably damaging |
Het |
| Mif-ps9 |
T |
A |
19: 56,743,766 (GRCm39) |
|
noncoding transcript |
Het |
| Mslnl |
T |
C |
17: 25,962,214 (GRCm39) |
L204P |
probably damaging |
Het |
| Muc6 |
T |
C |
7: 141,238,144 (GRCm39) |
E112G |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,527,963 (GRCm39) |
D2240V |
probably damaging |
Het |
| Ndufaf3 |
T |
C |
9: 108,443,892 (GRCm39) |
T9A |
probably damaging |
Het |
| Numb |
C |
A |
12: 83,842,935 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
T |
C |
7: 30,193,514 (GRCm39) |
V79A |
probably damaging |
Het |
| Psmb2 |
A |
G |
4: 126,580,825 (GRCm39) |
Y73C |
probably damaging |
Het |
| Rmnd5a |
G |
A |
6: 71,375,439 (GRCm39) |
L80F |
probably benign |
Het |
| Rnf19a |
G |
T |
15: 36,244,247 (GRCm39) |
Y604* |
probably null |
Het |
| Ros1 |
T |
A |
10: 51,964,028 (GRCm39) |
E1744V |
possibly damaging |
Het |
| Rpusd2 |
T |
C |
2: 118,867,408 (GRCm39) |
F219L |
probably benign |
Het |
| Sall2 |
T |
C |
14: 52,551,182 (GRCm39) |
N671S |
probably damaging |
Het |
| Sele |
T |
A |
1: 163,878,379 (GRCm39) |
S239R |
probably damaging |
Het |
| Serpina3b |
T |
C |
12: 104,097,138 (GRCm39) |
F140L |
probably damaging |
Het |
| Sufu |
G |
A |
19: 46,443,159 (GRCm39) |
|
probably benign |
Het |
| Tbx2 |
A |
G |
11: 85,725,592 (GRCm39) |
E181G |
probably damaging |
Het |
| Thumpd2 |
A |
G |
17: 81,363,317 (GRCm39) |
V50A |
probably damaging |
Het |
| Tlcd4 |
A |
G |
3: 121,000,940 (GRCm39) |
V231A |
probably benign |
Het |
| Ttn |
C |
A |
2: 76,573,589 (GRCm39) |
R17441L |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,334,477 (GRCm39) |
Y1157C |
probably damaging |
Het |
| Vmn1r9 |
T |
C |
6: 57,048,522 (GRCm39) |
V199A |
probably damaging |
Het |
| Vmn2r6 |
A |
G |
3: 64,445,694 (GRCm39) |
F677S |
probably damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,225,008 (GRCm39) |
A501T |
probably benign |
Het |
| Wapl |
C |
T |
14: 34,446,726 (GRCm39) |
P605S |
probably damaging |
Het |
| Zfp598 |
A |
G |
17: 24,898,623 (GRCm39) |
N474S |
probably benign |
Het |
| Zfyve26 |
A |
G |
12: 79,321,694 (GRCm39) |
L975P |
probably damaging |
Het |
| Zp3r |
C |
T |
1: 130,519,181 (GRCm39) |
G255D |
probably 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 |
|
|
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 |
PCR Primer
(F):5'- AGCTACTGTCACTTGGCCTAACCC -3'
(R):5'- TTCTGAAAGCAGCCACCATCCG -3'
Sequencing Primer
(F):5'- CGCAAGCATTTTCTTGGAaaaagg -3'
(R):5'- ATGCCTGCATACGTGTGT -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation