Incidental Mutation 'P0021:Stxbp1'
ID 7816
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 038274-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # P0021 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 32677619-32737249 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32713550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 29 (K29E)
Ref Sequence ENSEMBL: ENSMUSP00000089051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050000] [ENSMUST00000077458] [ENSMUST00000208840]
AlphaFold O08599
Predicted Effect probably damaging
Transcript: ENSMUST00000050000
AA Change: K29E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: K29E

DomainStartEndE-ValueType
Pfam:Sec1 28 582 9.8e-152 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000077458
AA Change: K29E

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: K29E

DomainStartEndE-ValueType
Pfam:Sec1 29 581 2.8e-110 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208840
Meta Mutation Damage Score 0.4961 question?
Coding Region Coverage
  • 1x: 73.1%
  • 3x: 63.5%
  • 10x: 31.6%
  • 20x: 17.3%
Validation Efficiency 79% (146/184)
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: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Fas A G 19: 34,284,610 (GRCm39) E39G probably damaging Het
Fig4 A G 10: 41,127,821 (GRCm39) S548P probably damaging Het
Msh4 T A 3: 153,594,455 (GRCm39) E115D probably damaging Het
Ptpn13 A G 5: 103,676,686 (GRCm39) E683G probably benign Het
Rasgrp3 G T 17: 75,807,708 (GRCm39) R255L probably damaging Het
Rnf168 C T 16: 32,117,705 (GRCm39) T422I probably damaging Het
Smarcd1 T C 15: 99,610,242 (GRCm39) probably benign Het
Other mutations in Stxbp1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2012-10-29