Incidental Mutation 'R7541:Stxbp1'
| ID |
583872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stxbp1
|
| Ensembl Gene |
ENSMUSG00000026797 |
| Gene Name |
syntaxin binding protein 1 |
| Synonyms |
Rb-sec1, Munc18-1, Munc-18a, Sxtbp1, Unc18h, N-sec1, nsec1 |
| MMRRC Submission |
045613-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.607)
|
| Stock # |
R7541 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32787602-32847245 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32818505 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 83
(S83T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050000]
[ENSMUST00000077458]
[ENSMUST00000208840]
|
| AlphaFold |
O08599 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050000
AA Change: S83T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: S83T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077458
AA Change: S83T
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: S83T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
29 |
581 |
2.8e-110 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208840
AA Change: S46T
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.5923 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020D05Rik |
G |
A |
19: 5,503,411 (GRCm38) |
P114L |
probably benign |
Het |
| 4930539E08Rik |
G |
A |
17: 28,905,324 (GRCm38) |
R335W |
probably damaging |
Het |
| 9530053A07Rik |
T |
A |
7: 28,144,256 (GRCm38) |
C856* |
probably null |
Het |
| Acss2 |
G |
A |
2: 155,574,690 (GRCm38) |
|
probably null |
Het |
| Adamts10 |
G |
A |
17: 33,531,616 (GRCm38) |
R210H |
probably benign |
Het |
| Als2 |
T |
C |
1: 59,167,616 (GRCm38) |
|
probably null |
Het |
| Aplp2 |
A |
T |
9: 31,152,356 (GRCm38) |
M652K |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,961,571 (GRCm38) |
I560M |
possibly damaging |
Het |
| Bicc1 |
T |
C |
10: 70,946,604 (GRCm38) |
D602G |
possibly damaging |
Het |
| Cdh4 |
A |
G |
2: 179,444,810 (GRCm38) |
|
probably null |
Het |
| Clasp1 |
T |
A |
1: 118,542,997 (GRCm38) |
|
probably null |
Het |
| Col6a6 |
A |
G |
9: 105,767,324 (GRCm38) |
I1255T |
probably damaging |
Het |
| Comp |
G |
T |
8: 70,381,350 (GRCm38) |
V672L |
probably damaging |
Het |
| Dbnl |
T |
G |
11: 5,795,486 (GRCm38) |
D122E |
probably damaging |
Het |
| Dgkz |
G |
A |
2: 91,942,675 (GRCm38) |
R346C |
probably damaging |
Het |
| Dnhd1 |
C |
T |
7: 105,678,309 (GRCm38) |
R54C |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 105,306,714 (GRCm38) |
I121T |
probably damaging |
Het |
| Fam184b |
A |
G |
5: 45,542,232 (GRCm38) |
L614P |
probably damaging |
Het |
| Fbxo18 |
T |
C |
2: 11,749,537 (GRCm38) |
R797G |
probably benign |
Het |
| Gata6 |
A |
G |
18: 11,059,108 (GRCm38) |
T392A |
probably damaging |
Het |
| Gm17783 |
T |
A |
16: 45,528,492 (GRCm38) |
T106S |
possibly damaging |
Het |
| Gm21731 |
A |
T |
13: 120,240,979 (GRCm38) |
M104L |
probably benign |
Het |
| Gm29609 |
A |
G |
5: 31,154,232 (GRCm38) |
F855S |
probably benign |
Het |
| Gm3424 |
T |
C |
14: 5,829,330 (GRCm38) |
N88D |
possibly damaging |
Het |
| Gnas |
T |
A |
2: 174,298,099 (GRCm38) |
S80T |
unknown |
Het |
| Hsd17b14 |
C |
A |
7: 45,566,146 (GRCm38) |
P190Q |
probably damaging |
Het |
| Iqch |
C |
T |
9: 63,445,521 (GRCm38) |
V955I |
possibly damaging |
Het |
| Kcnt2 |
T |
C |
1: 140,376,384 (GRCm38) |
V164A |
probably benign |
Het |
| Krt87 |
A |
G |
15: 101,438,634 (GRCm38) |
L46P |
probably damaging |
Het |
| Lef1 |
A |
G |
3: 131,191,099 (GRCm38) |
M237V |
probably benign |
Het |
| Lmbr1l |
A |
T |
15: 98,909,386 (GRCm38) |
|
probably null |
Het |
| Lrrc49 |
T |
C |
9: 60,610,403 (GRCm38) |
I408V |
probably damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,295,965 (GRCm38) |
S365G |
unknown |
Het |
| March2 |
A |
T |
17: 33,703,058 (GRCm38) |
C109* |
probably null |
Het |
| Metrnl |
T |
A |
11: 121,715,970 (GRCm38) |
C284S |
probably damaging |
Het |
| Mmachc |
G |
A |
4: 116,705,885 (GRCm38) |
T91I |
probably benign |
Het |
| Mrps7 |
T |
G |
11: 115,606,870 (GRCm38) |
M187R |
probably damaging |
Het |
| Ncapd3 |
A |
G |
9: 27,067,040 (GRCm38) |
E845G |
probably damaging |
Het |
| Olfr1393 |
T |
A |
11: 49,280,333 (GRCm38) |
F62I |
probably damaging |
Het |
| Olfr272 |
A |
T |
4: 52,911,376 (GRCm38) |
D139E |
probably benign |
Het |
| Ooep |
T |
A |
9: 78,378,065 (GRCm38) |
T90S |
possibly damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,491,609 (GRCm38) |
D664V |
probably damaging |
Het |
| Pigz |
T |
C |
16: 31,945,131 (GRCm38) |
S336P |
probably benign |
Het |
| Pou2f2 |
A |
T |
7: 25,116,128 (GRCm38) |
D71E |
probably benign |
Het |
| Reep6 |
G |
T |
10: 80,335,199 (GRCm38) |
R303L |
possibly damaging |
Het |
| Rmdn2 |
A |
T |
17: 79,627,868 (GRCm38) |
S137C |
|
Het |
| Rnf220 |
A |
T |
4: 117,489,930 (GRCm38) |
L95H |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,579,911 (GRCm38) |
|
probably benign |
Het |
| Trappc11 |
T |
C |
8: 47,505,582 (GRCm38) |
|
probably null |
Het |
| Ttn |
G |
T |
2: 76,791,301 (GRCm38) |
D15598E |
probably damaging |
Het |
| Vav2 |
T |
A |
2: 27,275,002 (GRCm38) |
R645W |
probably damaging |
Het |
| Vmn1r169 |
T |
A |
7: 23,577,987 (GRCm38) |
V268D |
probably benign |
Het |
| Zp2 |
A |
T |
7: 120,136,056 (GRCm38) |
C365S |
probably damaging |
Het |
|
| Other mutations in Stxbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01989:Stxbp1
|
APN |
2 |
32,812,064 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02743:Stxbp1
|
APN |
2 |
32,819,901 (GRCm38) |
missense |
probably damaging |
0.98 |
|
volume
|
UTSW |
2 |
32,801,893 (GRCm38) |
missense |
probably damaging |
0.99 |
|
volume2
|
UTSW |
2 |
32,801,883 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
P0021:Stxbp1
|
UTSW |
2 |
32,823,538 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0217:Stxbp1
|
UTSW |
2 |
32,801,870 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R0269:Stxbp1
|
UTSW |
2 |
32,802,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0285:Stxbp1
|
UTSW |
2 |
32,823,542 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0335:Stxbp1
|
UTSW |
2 |
32,802,905 (GRCm38) |
splice site |
probably benign |
|
|
R0565:Stxbp1
|
UTSW |
2 |
32,819,848 (GRCm38) |
missense |
probably benign |
0.07 |
|
R0617:Stxbp1
|
UTSW |
2 |
32,802,783 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0690:Stxbp1
|
UTSW |
2 |
32,800,695 (GRCm38) |
splice site |
probably benign |
|
|
R1022:Stxbp1
|
UTSW |
2 |
32,814,967 (GRCm38) |
splice site |
probably null |
|
|
R1024:Stxbp1
|
UTSW |
2 |
32,814,967 (GRCm38) |
splice site |
probably null |
|
|
R1295:Stxbp1
|
UTSW |
2 |
32,794,636 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1296:Stxbp1
|
UTSW |
2 |
32,794,636 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1472:Stxbp1
|
UTSW |
2 |
32,794,636 (GRCm38) |
missense |
probably benign |
0.18 |
|
R1699:Stxbp1
|
UTSW |
2 |
32,800,617 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1744:Stxbp1
|
UTSW |
2 |
32,806,719 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2004:Stxbp1
|
UTSW |
2 |
32,798,189 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2151:Stxbp1
|
UTSW |
2 |
32,802,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2153:Stxbp1
|
UTSW |
2 |
32,802,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2154:Stxbp1
|
UTSW |
2 |
32,802,856 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5170:Stxbp1
|
UTSW |
2 |
32,794,674 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6083:Stxbp1
|
UTSW |
2 |
32,796,018 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6295:Stxbp1
|
UTSW |
2 |
32,794,609 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R6504:Stxbp1
|
UTSW |
2 |
32,801,883 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R6770:Stxbp1
|
UTSW |
2 |
32,819,889 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6954:Stxbp1
|
UTSW |
2 |
32,801,893 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7283:Stxbp1
|
UTSW |
2 |
32,815,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7382:Stxbp1
|
UTSW |
2 |
32,798,168 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7734:Stxbp1
|
UTSW |
2 |
32,801,820 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8364:Stxbp1
|
UTSW |
2 |
32,806,762 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R8462:Stxbp1
|
UTSW |
2 |
32,817,281 (GRCm38) |
splice site |
probably null |
|
|
R9143:Stxbp1
|
UTSW |
2 |
32,798,145 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9246:Stxbp1
|
UTSW |
2 |
32,789,574 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9267:Stxbp1
|
UTSW |
2 |
32,818,505 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9501:Stxbp1
|
UTSW |
2 |
32,802,813 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9600:Stxbp1
|
UTSW |
2 |
32,811,108 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
RF010:Stxbp1
|
UTSW |
2 |
32,821,915 (GRCm38) |
missense |
probably benign |
0.06 |
|
X0060:Stxbp1
|
UTSW |
2 |
32,802,768 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Stxbp1
|
UTSW |
2 |
32,809,128 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1177:Stxbp1
|
UTSW |
2 |
32,802,754 (GRCm38) |
missense |
probably null |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAACTGTAGTACCGCTCATTTC -3'
(R):5'- GACACTGCCATTCTGGAGTG -3'
Sequencing Primer
(F):5'- AACTGTAGTACCGCTCATTTCTTCTG -3'
(R):5'- TGCCATTCTGGAGTGAACCAC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation