Incidental Mutation 'R8364:Stxbp1'
| ID |
646082 |
| 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 |
067873-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
R8364 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32677619-32737249 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32696774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 330
(M330V)
|
| 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: M330V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: M330V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077458
AA Change: M330V
PolyPhen 2
Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: M330V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
29 |
581 |
2.8e-110 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,815,396 (GRCm39) |
N761K |
probably damaging |
Het |
| Amotl1 |
G |
A |
9: 14,556,218 (GRCm39) |
A36V |
probably benign |
Het |
| Apol7a |
A |
G |
15: 77,273,820 (GRCm39) |
V214A |
possibly damaging |
Het |
| Arhgef25 |
G |
T |
10: 127,025,632 (GRCm39) |
Q3K |
unknown |
Het |
| Bpifc |
A |
T |
10: 85,797,891 (GRCm39) |
I456N |
probably damaging |
Het |
| Cers6 |
C |
T |
2: 68,692,083 (GRCm39) |
A35V |
possibly damaging |
Het |
| Corin |
T |
A |
5: 72,462,274 (GRCm39) |
Y986F |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 48,536,837 (GRCm39) |
Y122N |
probably damaging |
Het |
| Ddit4l |
T |
A |
3: 137,329,996 (GRCm39) |
L18* |
probably null |
Het |
| Epb41l3 |
T |
C |
17: 69,573,429 (GRCm39) |
|
probably null |
Het |
| Fam110a |
C |
T |
2: 151,812,338 (GRCm39) |
R144H |
probably damaging |
Het |
| Greb1l |
G |
T |
18: 10,529,687 (GRCm39) |
V890L |
possibly damaging |
Het |
| Hivep3 |
A |
T |
4: 119,956,639 (GRCm39) |
M1652L |
probably benign |
Het |
| Ighv1-19 |
G |
T |
12: 114,672,546 (GRCm39) |
Q25K |
possibly damaging |
Het |
| Itprid2 |
T |
C |
2: 79,481,787 (GRCm39) |
L489P |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,813,104 (GRCm39) |
R160G |
probably damaging |
Het |
| Lama3 |
A |
G |
18: 12,661,404 (GRCm39) |
D515G |
probably damaging |
Het |
| Lars2 |
G |
T |
9: 123,241,019 (GRCm39) |
G229* |
probably null |
Het |
| Lgalsl |
T |
A |
11: 20,781,009 (GRCm39) |
M1L |
possibly damaging |
Het |
| Lrtm2 |
T |
A |
6: 119,294,259 (GRCm39) |
T291S |
probably benign |
Het |
| Morc2b |
G |
A |
17: 33,357,214 (GRCm39) |
T186I |
probably benign |
Het |
| Mup20 |
G |
T |
4: 61,969,768 (GRCm39) |
S157R |
probably damaging |
Het |
| Nlgn1 |
A |
G |
3: 25,490,140 (GRCm39) |
V529A |
probably benign |
Het |
| Nps |
T |
A |
7: 134,870,543 (GRCm39) |
W22R |
probably benign |
Het |
| Nradd |
C |
A |
9: 110,450,536 (GRCm39) |
V214L |
probably damaging |
Het |
| Ogfrl1 |
G |
A |
1: 23,414,824 (GRCm39) |
Q228* |
probably null |
Het |
| Or10g9 |
T |
C |
9: 39,911,660 (GRCm39) |
T288A |
probably benign |
Het |
| Or56a3b |
T |
A |
7: 104,770,910 (GRCm39) |
I82N |
probably damaging |
Het |
| Or5m11b |
G |
A |
2: 85,806,358 (GRCm39) |
C257Y |
possibly damaging |
Het |
| Ripor2 |
A |
G |
13: 24,894,176 (GRCm39) |
T735A |
possibly damaging |
Het |
| Rnase6 |
C |
A |
14: 51,367,910 (GRCm39) |
P101T |
probably benign |
Het |
| Slc34a2 |
A |
T |
5: 53,225,716 (GRCm39) |
Y455F |
possibly damaging |
Het |
| Sypl2 |
T |
C |
3: 108,125,050 (GRCm39) |
T104A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,421,313 (GRCm39) |
|
probably null |
Het |
| Tnfrsf11a |
C |
A |
1: 105,745,412 (GRCm39) |
T150K |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,593,230 (GRCm39) |
L311P |
possibly damaging |
Het |
| Ttc7b |
T |
C |
12: 100,291,817 (GRCm39) |
S766G |
probably benign |
Het |
| Vmn2r83 |
A |
G |
10: 79,316,037 (GRCm39) |
T478A |
probably benign |
Het |
| Wdr1 |
G |
A |
5: 38,685,192 (GRCm39) |
T593I |
possibly damaging |
Het |
| Zfp407 |
A |
G |
18: 84,570,993 (GRCm39) |
|
probably null |
Het |
| Zfp872 |
G |
A |
9: 22,111,540 (GRCm39) |
G340R |
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 |
|
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 |
|
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'- AGTAATGTCCTTGCACCTTTATGG -3'
(R):5'- GTGAGTGGACACTTGTAAAGTCTAATG -3'
Sequencing Primer
(F):5'- AGTAGGAAGCAGTCTCCCTTC -3'
(R):5'- AAAGTCTAATGTAGCTGCTCTCCTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation