Incidental Mutation 'R1022:Stxbp1'
ID 98769
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 039124-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.635) question?
Stock # R1022 (G1)
Quality Score 165
Status Not validated
Chromosome 2
Chromosomal Location 32677619-32737249 bp(-) (GRCm39)
Type of Mutation splice site (2335 bp from exon)
DNA Base Change (assembly) T to C at 32704979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146437 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050000] [ENSMUST00000077458] [ENSMUST00000208840]
AlphaFold O08599
Predicted Effect probably benign
Transcript: ENSMUST00000050000
AA Change: M164V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: M164V

DomainStartEndE-ValueType
Pfam:Sec1 28 582 9.8e-152 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077458
AA Change: M164V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: M164V

DomainStartEndE-ValueType
Pfam:Sec1 29 581 2.8e-110 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000113222
SMART Domains Protein: ENSMUSP00000108848
Gene: ENSMUSG00000026797

DomainStartEndE-ValueType
Pfam:Sec1 1 419 1.7e-106 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192333
Predicted Effect probably null
Transcript: ENSMUST00000208840
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.7%
  • 10x: 94.5%
  • 20x: 87.2%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn2l A T 7: 126,096,466 (GRCm39) N425K probably benign Het
Ccar2 A G 14: 70,377,964 (GRCm39) S674P probably damaging Het
Cdc14b A T 13: 64,363,490 (GRCm39) V257E probably damaging Het
Cfap100 T A 6: 90,389,986 (GRCm39) T101S possibly damaging Het
Dock6 A T 9: 21,744,908 (GRCm39) L556H probably damaging Het
Dqx1 G A 6: 83,038,070 (GRCm39) C486Y probably damaging Het
Drd1 T A 13: 54,207,333 (GRCm39) M294L probably benign Het
Extl1 TGCGTTGCACCGATACCGGG TG 4: 134,084,988 (GRCm39) probably benign Het
Fcho2 A T 13: 98,869,167 (GRCm39) I568N probably damaging Het
Folr1 A G 7: 101,507,810 (GRCm39) M210T probably damaging Het
Gatc T A 5: 115,478,904 (GRCm39) probably null Het
H1f7 G A 15: 98,154,636 (GRCm39) T171I unknown Het
Hnrnpd C A 5: 100,114,016 (GRCm39) *87L probably null Het
Hpd C T 5: 123,312,532 (GRCm39) R279H possibly damaging Het
Igfals G A 17: 25,099,457 (GRCm39) V183M probably damaging Het
Marchf2 C A 17: 33,928,762 (GRCm39) G45C probably damaging Het
Myo15a A T 11: 60,370,442 (GRCm39) R1067S probably benign Het
Nell1 A G 7: 49,770,411 (GRCm39) S157G probably damaging Het
Nf1 A T 11: 79,437,859 (GRCm39) E2072D probably damaging Het
Nop2 T A 6: 125,114,149 (GRCm39) V205E probably benign Het
Nudt8 T A 19: 4,051,925 (GRCm39) W179R probably damaging Het
Or4k5 A T 14: 50,385,384 (GRCm39) F316I probably benign Het
Otx2 TCTGCTGCTGCTGCTGCTG TCTGCTGCTGCTGCTG 14: 48,896,729 (GRCm39) probably benign Het
Prl5a1 G A 13: 28,333,880 (GRCm39) V128I probably damaging Het
Pth1r A T 9: 110,571,295 (GRCm39) L25Q probably damaging Het
Pth1r T C 9: 110,558,689 (GRCm39) D96G probably benign Het
Rwdd2b A T 16: 87,233,738 (GRCm39) C121S probably damaging Het
Scn10a A G 9: 119,438,340 (GRCm39) I1843T probably damaging Het
Sirt5 A G 13: 43,524,245 (GRCm39) I6V probably benign Het
Slc5a3 G A 16: 91,874,383 (GRCm39) A147T probably damaging Het
Syt3 G T 7: 44,040,106 (GRCm39) G113V probably damaging Het
Tatdn2 A G 6: 113,686,506 (GRCm39) T644A probably damaging Het
Trim9 T A 12: 70,298,791 (GRCm39) probably null Het
Tut1 A G 19: 8,936,719 (GRCm39) N181S probably benign Het
Vmn2r90 A T 17: 17,948,400 (GRCm39) I549F probably damaging 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
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
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'- TGTTAGGGCATGAACATGGCACAC -3'
(R):5'- ATCTGGGGCATTCTTTGCCTGC -3'

Sequencing Primer
(F):5'- tgtgaactgattctctccttcc -3'
(R):5'- gtgtttaatgtctgtcgtccc -3'
Posted On 2014-01-09