Incidental Mutation 'R0217:Stxbp1'
ID |
33599 |
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 |
038466-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.635)
|
Stock # |
R0217 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
2 |
Chromosomal Location |
32677619-32737249 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32691882 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 437
(S437G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089051
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050000]
[ENSMUST00000077458]
|
AlphaFold |
O08599 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000050000
AA Change: S437G
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000052440 Gene: ENSMUSG00000026797 AA Change: S437G
Domain | Start | End | E-Value | Type |
Pfam:Sec1
|
28 |
582 |
9.8e-152 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077458
AA Change: S437G
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000089051 Gene: ENSMUSG00000026797 AA Change: S437G
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 |
0.0800 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
Validation Efficiency |
100% (62/62) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acte1 |
T |
C |
7: 143,447,956 (GRCm39) |
|
probably benign |
Het |
Actr3 |
A |
G |
1: 125,335,150 (GRCm39) |
|
probably benign |
Het |
Adamts13 |
A |
G |
2: 26,886,933 (GRCm39) |
|
probably benign |
Het |
Afap1l1 |
A |
G |
18: 61,879,940 (GRCm39) |
V310A |
probably damaging |
Het |
Alms1 |
T |
A |
6: 85,599,912 (GRCm39) |
S2048R |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,385,618 (GRCm39) |
S421T |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Ccdc150 |
T |
G |
1: 54,339,589 (GRCm39) |
S478A |
possibly damaging |
Het |
Ccnyl1 |
T |
A |
1: 64,752,257 (GRCm39) |
|
probably benign |
Het |
Cdc23 |
T |
C |
18: 34,784,718 (GRCm39) |
T15A |
unknown |
Het |
Cdk19 |
C |
T |
10: 40,352,254 (GRCm39) |
|
probably benign |
Het |
Comp |
A |
C |
8: 70,831,558 (GRCm39) |
D420A |
probably damaging |
Het |
Ctnnal1 |
T |
C |
4: 56,813,230 (GRCm39) |
H667R |
probably benign |
Het |
Cyp20a1 |
C |
A |
1: 60,382,625 (GRCm39) |
|
probably benign |
Het |
Eci3 |
A |
C |
13: 35,132,072 (GRCm39) |
S259A |
probably benign |
Het |
Fcnb |
T |
C |
2: 27,969,689 (GRCm39) |
D126G |
probably benign |
Het |
Foxk1 |
T |
C |
5: 142,387,649 (GRCm39) |
M124T |
possibly damaging |
Het |
Gm12790 |
T |
C |
4: 101,825,231 (GRCm39) |
Y61C |
probably damaging |
Het |
Hmgcr |
A |
C |
13: 96,788,488 (GRCm39) |
I777S |
probably damaging |
Het |
Hsdl2 |
A |
G |
4: 59,597,311 (GRCm39) |
E100G |
probably damaging |
Het |
Itgb2 |
G |
T |
10: 77,384,370 (GRCm39) |
|
probably benign |
Het |
Jak2 |
T |
A |
19: 29,274,050 (GRCm39) |
|
probably null |
Het |
Lrba |
T |
C |
3: 86,550,029 (GRCm39) |
S2333P |
probably damaging |
Het |
Man1a2 |
A |
G |
3: 100,524,353 (GRCm39) |
L365P |
possibly damaging |
Het |
Map2k5 |
A |
T |
9: 63,164,257 (GRCm39) |
|
probably null |
Het |
Mcc |
C |
G |
18: 44,652,583 (GRCm39) |
|
probably benign |
Het |
Megf8 |
T |
A |
7: 25,063,504 (GRCm39) |
L2620Q |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,319,400 (GRCm39) |
|
probably benign |
Het |
Or11h7 |
A |
G |
14: 50,891,552 (GRCm39) |
N286S |
probably damaging |
Het |
Or1e30 |
T |
A |
11: 73,678,214 (GRCm39) |
V150E |
possibly damaging |
Het |
Or5p1 |
C |
A |
7: 107,916,505 (GRCm39) |
H135N |
probably benign |
Het |
Pank3 |
T |
A |
11: 35,668,555 (GRCm39) |
D181E |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,981,302 (GRCm39) |
|
probably null |
Het |
Plag1 |
A |
C |
4: 3,904,379 (GRCm39) |
S271A |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,326,906 (GRCm39) |
I280N |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,940,687 (GRCm39) |
V1007A |
probably benign |
Het |
Ppm1h |
T |
A |
10: 122,756,640 (GRCm39) |
D428E |
probably damaging |
Het |
Prelid2 |
A |
T |
18: 42,068,317 (GRCm39) |
|
probably benign |
Het |
Ptk2b |
T |
C |
14: 66,393,830 (GRCm39) |
Y881C |
probably damaging |
Het |
Rptor |
T |
C |
11: 119,785,738 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,387 (GRCm39) |
|
probably null |
Het |
Scaf4 |
T |
C |
16: 90,039,570 (GRCm39) |
D843G |
probably damaging |
Het |
Serpina3b |
C |
T |
12: 104,096,986 (GRCm39) |
A89V |
probably damaging |
Het |
Serpinb9d |
C |
A |
13: 33,382,005 (GRCm39) |
T158N |
possibly damaging |
Het |
Slc39a10 |
C |
T |
1: 46,874,700 (GRCm39) |
V201I |
probably benign |
Het |
Slc6a13 |
T |
A |
6: 121,301,279 (GRCm39) |
N189K |
probably damaging |
Het |
Smco1 |
G |
T |
16: 32,092,599 (GRCm39) |
R90L |
possibly damaging |
Het |
Stim1 |
T |
A |
7: 102,085,007 (GRCm39) |
M653K |
probably benign |
Het |
Stxbp3-ps |
T |
G |
19: 9,536,496 (GRCm39) |
|
noncoding transcript |
Het |
Tgtp1 |
A |
C |
11: 48,878,146 (GRCm39) |
S186R |
probably benign |
Het |
Trpc7 |
C |
T |
13: 56,937,581 (GRCm39) |
W570* |
probably null |
Het |
Trpv4 |
C |
A |
5: 114,772,722 (GRCm39) |
R289L |
possibly damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,214,634 (GRCm39) |
M206V |
possibly damaging |
Het |
Wdr47 |
T |
A |
3: 108,544,336 (GRCm39) |
V653E |
probably damaging |
Het |
Zfp113 |
T |
C |
5: 138,148,953 (GRCm39) |
R64G |
probably benign |
Het |
Zfp661 |
C |
T |
2: 127,419,211 (GRCm39) |
E310K |
probably damaging |
Het |
Zfp735 |
T |
A |
11: 73,602,112 (GRCm39) |
I352N |
possibly damaging |
Het |
Zswim4 |
A |
G |
8: 84,939,293 (GRCm39) |
L863P |
probably damaging |
Het |
Zzef1 |
T |
A |
11: 72,779,894 (GRCm39) |
I1889N |
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 |
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 |
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'- CAGAGACAGCTCAGCTTTAGTGACC -3'
(R):5'- TCTGACCCCACCATAGATGTAGCC -3'
Sequencing Primer
(F):5'- ctccttctctctccctctctc -3'
(R):5'- CACCATAGATGTAGCCGAGGAG -3'
|
Posted On |
2013-05-09 |