Incidental Mutation 'R0269:Stxbp1'
| ID |
35126 |
| 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 |
038495-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.635)
|
| Stock # |
R0269 (G1)
|
| Quality Score |
91 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
32677619-32737249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 32692795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 407
(I407S)
|
| 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: I407S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: I407S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077458
AA Change: I407S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: I407S
| 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 |
0.8737 |
| Coding Region Coverage |
- 1x: 98.7%
- 3x: 97.8%
- 10x: 96.1%
- 20x: 93.6%
|
| Validation Efficiency |
100% (59/59) |
| 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 |
|---|
| 5031439G07Rik |
C |
T |
15: 84,838,201 (GRCm39) |
V231I |
possibly damaging |
Het |
| Abca1 |
T |
C |
4: 53,044,228 (GRCm39) |
D1798G |
probably benign |
Het |
| Adcy2 |
T |
A |
13: 68,826,725 (GRCm39) |
K660* |
probably null |
Het |
| Alk |
G |
T |
17: 72,910,578 (GRCm39) |
P43T |
probably damaging |
Het |
| Amhr2 |
T |
C |
15: 102,355,503 (GRCm39) |
C189R |
probably benign |
Het |
| Arrb1 |
T |
C |
7: 99,243,884 (GRCm39) |
L278P |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,511,246 (GRCm39) |
Y153C |
probably damaging |
Het |
| Bpifb1 |
A |
G |
2: 154,054,867 (GRCm39) |
D253G |
possibly damaging |
Het |
| Bpifb9b |
C |
T |
2: 154,161,545 (GRCm39) |
T559M |
probably benign |
Het |
| Cd46 |
T |
G |
1: 194,746,996 (GRCm39) |
I339L |
probably benign |
Het |
| Cdkn2aip |
A |
G |
8: 48,165,012 (GRCm39) |
S234P |
probably damaging |
Het |
| Chil3 |
T |
C |
3: 106,063,072 (GRCm39) |
K173E |
probably benign |
Het |
| Csf2rb2 |
G |
T |
15: 78,173,065 (GRCm39) |
T265N |
probably benign |
Het |
| Cyp2c40 |
A |
G |
19: 39,762,340 (GRCm39) |
F436L |
probably damaging |
Het |
| D130040H23Rik |
T |
C |
8: 69,753,446 (GRCm39) |
F24S |
probably benign |
Het |
| Defb12 |
G |
T |
8: 19,164,375 (GRCm39) |
A34E |
probably damaging |
Het |
| Fam234a |
A |
T |
17: 26,435,591 (GRCm39) |
D264E |
probably benign |
Het |
| Fbxl17 |
A |
C |
17: 63,691,987 (GRCm39) |
F42V |
probably damaging |
Het |
| Gldc |
T |
A |
19: 30,096,002 (GRCm39) |
I670F |
probably damaging |
Het |
| Guf1 |
A |
C |
5: 69,716,942 (GRCm39) |
Q168P |
probably damaging |
Het |
| Hcn2 |
A |
G |
10: 79,570,075 (GRCm39) |
|
probably benign |
Het |
| Hddc2 |
A |
G |
10: 31,203,942 (GRCm39) |
M190V |
probably benign |
Het |
| Kcnq2 |
T |
C |
2: 180,738,767 (GRCm39) |
E294G |
probably benign |
Het |
| Kdelr1 |
T |
A |
7: 45,523,463 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,090,511 (GRCm39) |
H1158Q |
probably damaging |
Het |
| Laptm5 |
A |
T |
4: 130,658,127 (GRCm39) |
N185Y |
probably benign |
Het |
| Mgat4a |
A |
G |
1: 37,529,388 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Mlh3 |
C |
A |
12: 85,315,179 (GRCm39) |
V336L |
probably benign |
Het |
| Myadm |
A |
G |
7: 3,345,273 (GRCm39) |
T12A |
unknown |
Het |
| Nol8 |
T |
C |
13: 49,807,921 (GRCm39) |
F46L |
possibly damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,691,240 (GRCm39) |
D308G |
possibly damaging |
Het |
| Oog3 |
A |
T |
4: 143,886,784 (GRCm39) |
V112D |
probably benign |
Het |
| Or4a66 |
A |
G |
2: 88,531,040 (GRCm39) |
V211A |
probably damaging |
Het |
| Or5af2 |
T |
C |
11: 58,707,975 (GRCm39) |
V47A |
probably damaging |
Het |
| Or5m9b |
A |
G |
2: 85,905,485 (GRCm39) |
M134V |
probably benign |
Het |
| Or8g34 |
T |
C |
9: 39,373,090 (GRCm39) |
M118T |
probably damaging |
Het |
| Or9s18 |
A |
T |
13: 65,300,692 (GRCm39) |
Y218F |
possibly damaging |
Het |
| Pramel14 |
A |
G |
4: 143,720,088 (GRCm39) |
|
probably benign |
Het |
| Prss39 |
A |
T |
1: 34,539,279 (GRCm39) |
H173L |
probably damaging |
Het |
| Rabl6 |
A |
G |
2: 25,476,878 (GRCm39) |
|
probably null |
Het |
| Recql5 |
T |
C |
11: 115,819,050 (GRCm39) |
D172G |
possibly damaging |
Het |
| Reln |
T |
C |
5: 22,125,535 (GRCm39) |
D2716G |
probably damaging |
Het |
| Rgs7 |
A |
G |
1: 175,098,386 (GRCm39) |
S58P |
possibly damaging |
Het |
| Sema6d |
T |
A |
2: 124,502,665 (GRCm39) |
F583L |
possibly damaging |
Het |
| Sgsm1 |
T |
C |
5: 113,434,795 (GRCm39) |
|
probably null |
Het |
| Slc22a19 |
A |
T |
19: 7,686,986 (GRCm39) |
|
probably benign |
Het |
| Slc6a21 |
T |
A |
7: 44,936,332 (GRCm39) |
Y428* |
probably null |
Het |
| Smarca4 |
T |
G |
9: 21,547,497 (GRCm39) |
M260R |
probably benign |
Het |
| Smg6 |
C |
A |
11: 75,053,757 (GRCm39) |
T1413K |
probably benign |
Het |
| Spata17 |
T |
C |
1: 186,830,069 (GRCm39) |
I322V |
probably benign |
Het |
| Sult1d1 |
A |
T |
5: 87,712,661 (GRCm39) |
I61N |
probably damaging |
Het |
| Sytl2 |
T |
C |
7: 90,052,228 (GRCm39) |
|
probably benign |
Het |
| Tm4sf5 |
T |
A |
11: 70,401,495 (GRCm39) |
S165T |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,502,740 (GRCm39) |
D256G |
probably benign |
Het |
| Trmt11 |
T |
A |
10: 30,463,485 (GRCm39) |
H210L |
probably benign |
Het |
| Tut7 |
A |
T |
13: 59,964,669 (GRCm39) |
|
probably null |
Het |
| Ush2a |
T |
A |
1: 188,542,373 (GRCm39) |
M3313K |
probably benign |
Het |
| Zfp955b |
A |
T |
17: 33,524,437 (GRCm39) |
S43R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGCAACCTAGAGGCATCTGGC -3'
(R):5'- AGGGCGTGAACTTCCTGAGAACTG -3'
Sequencing Primer
(F):5'- CATCTGGCAGGCTGAGTG -3'
(R):5'- TGAACTTCCTGAGAACTGTCACC -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation