Incidental Mutation 'R9600:Stxbp1'
| ID |
723647 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.610)
|
| Stock # |
R9600 (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 32701120 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 264
(Y264C)
|
| 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: Y264C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: Y264C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077458
AA Change: Y264C
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: Y264C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sec1
|
29 |
581 |
2.8e-110 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730455P16Rik |
A |
G |
11: 80,261,197 (GRCm39) |
V210A |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,536,102 (GRCm39) |
A1544V |
possibly damaging |
Het |
| Akap6 |
A |
G |
12: 52,933,341 (GRCm39) |
T278A |
probably benign |
Het |
| Arfgef1 |
T |
A |
1: 10,233,977 (GRCm39) |
I1106F |
probably benign |
Het |
| Armc7 |
T |
C |
11: 115,367,038 (GRCm39) |
L61S |
probably damaging |
Het |
| Atp1a3 |
G |
A |
7: 24,700,027 (GRCm39) |
T111M |
probably benign |
Het |
| Bltp1 |
A |
T |
3: 37,095,565 (GRCm39) |
K1103* |
probably null |
Het |
| Cacna2d4 |
T |
A |
6: 119,322,023 (GRCm39) |
S962R |
probably benign |
Het |
| Camsap2 |
T |
C |
1: 136,204,936 (GRCm39) |
T526A |
|
Het |
| Casq2 |
A |
T |
3: 102,052,622 (GRCm39) |
D378V |
unknown |
Het |
| Chst8 |
C |
T |
7: 34,374,646 (GRCm39) |
D398N |
possibly damaging |
Het |
| Cmya5 |
C |
T |
13: 93,226,604 (GRCm39) |
G2828D |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 45,969,009 (GRCm39) |
N250K |
probably damaging |
Het |
| Cpne5 |
T |
C |
17: 29,380,520 (GRCm39) |
N401D |
probably damaging |
Het |
| Cse1l |
A |
G |
2: 166,757,119 (GRCm39) |
N7S |
probably damaging |
Het |
| Cyp4f39 |
G |
A |
17: 32,705,920 (GRCm39) |
G337D |
probably damaging |
Het |
| Dera |
C |
T |
6: 137,814,135 (GRCm39) |
R308C |
probably benign |
Het |
| Drd5 |
T |
A |
5: 38,478,174 (GRCm39) |
I389N |
possibly damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,237 (GRCm39) |
T107A |
probably damaging |
Het |
| Fbxw22 |
C |
A |
9: 109,212,986 (GRCm39) |
L320F |
probably damaging |
Het |
| Fndc3b |
G |
T |
3: 27,552,941 (GRCm39) |
T352K |
probably damaging |
Het |
| Gm36864 |
T |
A |
7: 43,886,275 (GRCm39) |
I169K |
unknown |
Het |
| Hdac4 |
A |
T |
1: 91,889,277 (GRCm39) |
D749E |
probably damaging |
Het |
| Herc1 |
C |
T |
9: 66,304,594 (GRCm39) |
A805V |
possibly damaging |
Het |
| Hrh1 |
A |
G |
6: 114,457,453 (GRCm39) |
K245E |
probably benign |
Het |
| Khdc1a |
A |
G |
1: 21,421,204 (GRCm39) |
T130A |
probably benign |
Het |
| Lrp5 |
C |
G |
19: 3,641,712 (GRCm39) |
A1417P |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,365,002 (GRCm39) |
Q3253R |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,684,723 (GRCm39) |
L811* |
probably null |
Het |
| Mettl8 |
T |
C |
2: 70,812,383 (GRCm39) |
D84G |
possibly damaging |
Het |
| Miga1 |
T |
G |
3: 151,993,186 (GRCm39) |
T412P |
probably benign |
Het |
| Mtor |
G |
T |
4: 148,632,092 (GRCm39) |
R2322L |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,567,147 (GRCm39) |
N1791D |
unknown |
Het |
| Myo9b |
C |
G |
8: 71,743,075 (GRCm39) |
S45R |
possibly damaging |
Het |
| Nup50l |
A |
T |
6: 96,142,156 (GRCm39) |
L296Q |
possibly damaging |
Het |
| Olfm4 |
T |
C |
14: 80,243,747 (GRCm39) |
F105S |
probably damaging |
Het |
| Or5af2 |
A |
T |
11: 58,708,370 (GRCm39) |
I179F |
possibly damaging |
Het |
| Osbpl1a |
T |
C |
18: 13,015,277 (GRCm39) |
I384V |
probably benign |
Het |
| Pcnx1 |
T |
C |
12: 82,030,435 (GRCm39) |
L1131P |
|
Het |
| Pex6 |
T |
A |
17: 47,035,322 (GRCm39) |
V827E |
probably damaging |
Het |
| Plek |
A |
C |
11: 16,940,119 (GRCm39) |
S197A |
probably benign |
Het |
| Pmpca |
T |
C |
2: 26,282,598 (GRCm39) |
Y269H |
probably benign |
Het |
| Pop1 |
T |
C |
15: 34,512,881 (GRCm39) |
I493T |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,283,954 (GRCm39) |
N615D |
probably benign |
Het |
| Rtp3 |
T |
C |
9: 110,815,198 (GRCm39) |
Y389C |
unknown |
Het |
| Rusf1 |
T |
A |
7: 127,875,676 (GRCm39) |
D253V |
possibly damaging |
Het |
| Sardh |
T |
C |
2: 27,120,513 (GRCm39) |
Q423R |
probably benign |
Het |
| Slc11a1 |
T |
C |
1: 74,422,688 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,896,239 (GRCm39) |
D572G |
probably damaging |
Het |
| Slco1a8 |
T |
G |
6: 141,949,234 (GRCm39) |
|
probably null |
Het |
| Slfn14 |
A |
G |
11: 83,170,048 (GRCm39) |
V532A |
probably benign |
Het |
| Spmip10 |
T |
C |
18: 56,725,450 (GRCm39) |
W37R |
probably benign |
Het |
| Syce1l |
T |
C |
8: 114,381,750 (GRCm39) |
I230T |
unknown |
Het |
| Taf5l |
T |
C |
8: 124,730,173 (GRCm39) |
Y172C |
|
Het |
| Trpc4 |
A |
T |
3: 54,102,248 (GRCm39) |
K49* |
probably null |
Het |
| Ttc13 |
A |
G |
8: 125,415,284 (GRCm39) |
V285A |
probably benign |
Het |
| Ttc17 |
A |
T |
2: 94,204,890 (GRCm39) |
L344Q |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,135,972 (GRCm39) |
H2469R |
probably benign |
Het |
| Xkr7 |
A |
G |
2: 152,896,393 (GRCm39) |
I416V |
probably benign |
Het |
| Zeb2 |
C |
A |
2: 44,987,180 (GRCm39) |
D35Y |
unknown |
Het |
| Zfp28 |
A |
G |
7: 6,397,917 (GRCm39) |
H784R |
probably benign |
Het |
| Zfp644 |
A |
C |
5: 106,783,909 (GRCm39) |
S848R |
probably benign |
Het |
| Zfp809 |
G |
A |
9: 22,150,384 (GRCm39) |
E294K |
possibly damaging |
Het |
| Zfp820 |
A |
G |
17: 22,038,861 (GRCm39) |
Y156H |
probably benign |
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 |
|
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 |
|
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'- ATTATGGGTCTACTCTTGTGCTCAC -3'
(R):5'- TAACACAGAGGCTCCGCTAC -3'
Sequencing Primer
(F):5'- cacacacacacacacaca -3'
(R):5'- AGGCTCCGCTACTTGGTTTGAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation