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) question?
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

DomainStartEndE-ValueType
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

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
Meta Mutation Damage Score 0.0800 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
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
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