Incidental Mutation 'R6954:Stxbp1'
| ID |
541351 |
| 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 |
045066-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.635)
|
| Stock # |
R6954 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32677619-32737249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32691905 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 429
(H429L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089051
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050000]
[ENSMUST00000077458]
|
| AlphaFold |
O08599 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000050000
AA Change: H429L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: H429L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077458
AA Change: H429L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: H429L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
29 |
581 |
2.8e-110 |
PFAM |
|
| Meta Mutation Damage Score |
0.9539 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
98% (57/58) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930451I11Rik |
A |
T |
7: 126,429,809 (GRCm39) |
|
probably null |
Het |
| Alox5 |
A |
C |
6: 116,397,241 (GRCm39) |
Y314* |
probably null |
Het |
| Ap4e1 |
T |
C |
2: 126,906,871 (GRCm39) |
S1044P |
probably benign |
Het |
| Ash2l |
A |
G |
8: 26,312,796 (GRCm39) |
V391A |
possibly damaging |
Het |
| B4galnt4 |
A |
G |
7: 140,647,145 (GRCm39) |
T326A |
probably benign |
Het |
| Ccm2 |
T |
A |
11: 6,544,239 (GRCm39) |
I345N |
probably damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,896,373 (GRCm39) |
H1034Y |
probably benign |
Het |
| Cpsf1 |
A |
G |
15: 76,483,696 (GRCm39) |
L849S |
probably damaging |
Het |
| Ctrb1 |
A |
G |
8: 112,413,296 (GRCm39) |
S239P |
probably damaging |
Het |
| Dennd1b |
T |
A |
1: 139,096,683 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
A |
G |
11: 117,957,258 (GRCm39) |
I2773T |
probably damaging |
Het |
| Eif2b2 |
T |
A |
12: 85,272,817 (GRCm39) |
F267L |
probably damaging |
Het |
| Fcrl2 |
A |
G |
3: 87,170,983 (GRCm39) |
|
probably benign |
Het |
| Furin |
G |
T |
7: 80,046,712 (GRCm39) |
D181E |
possibly damaging |
Het |
| Gm29106 |
T |
A |
1: 118,128,317 (GRCm39) |
C670S |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,300 (GRCm39) |
D204E |
possibly damaging |
Het |
| Hsf2 |
T |
A |
10: 57,380,739 (GRCm39) |
I191N |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,788,124 (GRCm39) |
D566G |
probably benign |
Het |
| Igf1 |
G |
C |
10: 87,700,722 (GRCm39) |
V49L |
probably damaging |
Het |
| Igfbpl1 |
C |
T |
4: 45,826,663 (GRCm39) |
C44Y |
probably damaging |
Het |
| Letm1 |
G |
A |
5: 33,939,851 (GRCm39) |
R16C |
probably benign |
Het |
| Lypd8l |
T |
A |
11: 58,499,314 (GRCm39) |
Y168F |
probably benign |
Het |
| Marf1 |
A |
G |
16: 13,956,384 (GRCm39) |
V819A |
probably damaging |
Het |
| Mfsd4b4 |
A |
T |
10: 39,767,948 (GRCm39) |
S428T |
probably benign |
Het |
| Myo1d |
T |
C |
11: 80,565,783 (GRCm39) |
I347M |
probably benign |
Het |
| Myo9b |
A |
G |
8: 71,743,463 (GRCm39) |
I175V |
probably damaging |
Het |
| Naip5 |
A |
T |
13: 100,359,922 (GRCm39) |
V438E |
probably damaging |
Het |
| Nup205 |
T |
A |
6: 35,185,044 (GRCm39) |
V768E |
possibly damaging |
Het |
| Or4k6 |
A |
T |
14: 50,475,567 (GRCm39) |
Y258* |
probably null |
Het |
| Or9g4b |
T |
A |
2: 85,616,726 (GRCm39) |
Y290* |
probably null |
Het |
| Pcdh15 |
C |
T |
10: 74,481,821 (GRCm39) |
H1651Y |
possibly damaging |
Het |
| Pdgfra |
A |
T |
5: 75,334,055 (GRCm39) |
Q376L |
possibly damaging |
Het |
| Pign |
T |
C |
1: 105,481,622 (GRCm39) |
I791M |
probably benign |
Het |
| Pik3c2b |
T |
G |
1: 132,994,041 (GRCm39) |
S2A |
possibly damaging |
Het |
| Pip5k1a |
A |
T |
3: 94,975,558 (GRCm39) |
I304K |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,702,054 (GRCm39) |
L1294* |
probably null |
Het |
| Pprc1 |
T |
C |
19: 46,052,872 (GRCm39) |
S797P |
probably damaging |
Het |
| Prob1 |
A |
G |
18: 35,787,321 (GRCm39) |
V311A |
probably benign |
Het |
| Prune2 |
C |
A |
19: 16,977,385 (GRCm39) |
T40K |
probably damaging |
Het |
| Rif1 |
T |
G |
2: 52,002,703 (GRCm39) |
D2052E |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,759,519 (GRCm39) |
V195A |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,474,729 (GRCm39) |
|
probably null |
Het |
| Sidt2 |
A |
T |
9: 45,864,148 (GRCm39) |
N123K |
probably benign |
Het |
| Slc22a6 |
G |
A |
19: 8,599,460 (GRCm39) |
A320T |
probably benign |
Het |
| Slc25a10 |
A |
G |
11: 120,388,973 (GRCm39) |
H279R |
probably benign |
Het |
| Slc35b4 |
A |
G |
6: 34,135,556 (GRCm39) |
V252A |
probably benign |
Het |
| Slc46a3 |
T |
C |
5: 147,823,150 (GRCm39) |
T231A |
probably benign |
Het |
| Tas2r134 |
C |
T |
2: 51,517,782 (GRCm39) |
T87I |
probably benign |
Het |
| Tcstv6 |
A |
G |
13: 120,307,666 (GRCm39) |
D20G |
possibly damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,559,582 (GRCm39) |
L130H |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,411,921 (GRCm39) |
|
probably null |
Het |
| Tmppe |
G |
A |
9: 114,234,591 (GRCm39) |
V297I |
probably benign |
Het |
| Ung |
G |
T |
5: 114,269,398 (GRCm39) |
A37S |
probably benign |
Het |
| Vdac1 |
T |
C |
11: 52,277,200 (GRCm39) |
Y237H |
probably damaging |
Het |
| Vgll4 |
T |
C |
6: 114,898,328 (GRCm39) |
Y11C |
probably damaging |
Het |
| Vmn1r24 |
A |
G |
6: 57,933,437 (GRCm39) |
I27T |
probably benign |
Het |
| Zfp280b |
T |
A |
10: 75,875,522 (GRCm39) |
M467K |
probably benign |
Het |
| Zkscan4 |
A |
G |
13: 21,668,535 (GRCm39) |
I329V |
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 |
|
|
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 |
|
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'- CCGCTGTATCATAATGGGCTGTC -3'
(R):5'- TTCTCATCTCGTAGGCAGGGAC -3'
Sequencing Primer
(F):5'- GCTGTCAATCATGAACGTGATG -3'
(R):5'- TGCCAGGTGGACGGAAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation