Incidental Mutation 'IGL01989:Stxbp1'
ID182816
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp1
Ensembl Gene ENSMUSG00000026797
Gene Namesyntaxin binding protein 1
SynonymsRb-sec1, Munc18-1, Munc-18a, Sxtbp1, Unc18h, N-sec1, nsec1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.811) question?
Stock #IGL01989
Quality Score
Status
Chromosome2
Chromosomal Location32787602-32847245 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 32812064 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 207 (D207G)
Ref Sequence ENSEMBL: ENSMUSP00000089051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050000] [ENSMUST00000077458]
Predicted Effect probably benign
Transcript: ENSMUST00000050000
AA Change: D207G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000052440
Gene: ENSMUSG00000026797
AA Change: D207G

DomainStartEndE-ValueType
Pfam:Sec1 28 582 9.8e-152 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077458
AA Change: D207G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000089051
Gene: ENSMUSG00000026797
AA Change: D207G

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
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,986,270 V8D probably damaging Het
Asb15 A G 6: 24,565,944 T299A probably damaging Het
Asph A T 4: 9,602,462 probably benign Het
Cadm3 G A 1: 173,338,011 probably benign Het
Cep164 G A 9: 45,793,015 probably benign Het
Ces2c C A 8: 104,849,743 N129K probably damaging Het
Chdh C A 14: 30,031,731 P199Q possibly damaging Het
Dnah7b T C 1: 46,289,534 V3142A probably damaging Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Dock2 G T 11: 34,268,053 N1172K probably benign Het
Dppa5a T A 9: 78,367,821 E66D probably benign Het
F5 A G 1: 164,176,307 S224G probably benign Het
Fign T C 2: 63,980,450 T159A probably benign Het
Fsip2 A T 2: 82,993,867 D6648V probably damaging Het
Gbp2b A T 3: 142,611,440 E519V probably benign Het
Hdac10 A G 15: 89,125,343 L462P probably damaging Het
Hecw2 A G 1: 53,840,792 L1286S probably damaging Het
Hnrnpll A G 17: 80,038,740 V364A probably benign Het
Hnrnpul2 A G 19: 8,823,628 T282A probably damaging Het
Il12a T A 3: 68,691,576 probably benign Het
Insl5 C A 4: 103,026,641 V28L probably benign Het
Kcnj3 G A 2: 55,437,231 D11N probably benign Het
Lrfn2 A G 17: 49,071,085 D398G probably damaging Het
Lrp1 C T 10: 127,578,129 D1137N probably damaging Het
Mettl18 C A 1: 163,996,303 D64E probably benign Het
Mrpl3 A G 9: 105,071,479 T245A probably benign Het
Mrps18c C A 5: 100,801,909 P52Q probably damaging Het
Myh3 A T 11: 67,086,655 D377V probably damaging Het
N4bp1 C A 8: 86,848,487 V727L probably damaging Het
Npffr2 A G 5: 89,582,972 T254A probably benign Het
Nsfl1c C A 2: 151,500,729 T73K probably damaging Het
Olfr160 C T 9: 37,711,836 V148I probably damaging Het
Plxna1 C T 6: 89,329,414 W1442* probably null Het
Serpina3n T A 12: 104,413,491 M381K probably benign Het
Shank3 C T 15: 89,503,299 probably benign Het
Smtnl1 T C 2: 84,818,470 N147D probably benign Het
Sprr2j-ps T C 3: 92,419,105 S96P unknown Het
Ssh2 A G 11: 77,453,685 E832G possibly damaging Het
Sult1c1 A T 17: 53,974,027 M16K probably benign Het
Tmem247 A G 17: 86,918,291 E53G probably damaging Het
Tmem86a A T 7: 47,053,439 I105F probably benign Het
Tph2 A G 10: 115,146,016 S304P probably benign Het
Ttn T C 2: 76,778,539 D17711G probably damaging Het
Urb1 A T 16: 90,769,586 probably benign Het
Vcan T A 13: 89,689,359 I1729L possibly damaging Het
Vmn2r90 T A 17: 17,713,232 Y351* probably null Het
Wfdc5 C T 2: 164,178,731 probably null Het
Wnt3 G A 11: 103,812,407 D239N probably benign Het
Zbtb8b T A 4: 129,432,388 E295V probably damaging Het
Zfp458 T C 13: 67,259,627 T52A probably damaging Het
Other mutations in Stxbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02743:Stxbp1 APN 2 32819901 missense probably damaging 0.98
volume UTSW 2 32801893 missense probably damaging 0.99
volume2 UTSW 2 32801883 missense possibly damaging 0.95
P0021:Stxbp1 UTSW 2 32823538 missense probably damaging 0.96
R0217:Stxbp1 UTSW 2 32801870 missense possibly damaging 0.69
R0269:Stxbp1 UTSW 2 32802783 missense probably damaging 1.00
R0285:Stxbp1 UTSW 2 32823542 missense probably benign 0.00
R0335:Stxbp1 UTSW 2 32802905 splice site probably benign
R0565:Stxbp1 UTSW 2 32819848 missense probably benign 0.07
R0617:Stxbp1 UTSW 2 32802783 missense probably damaging 1.00
R0690:Stxbp1 UTSW 2 32800695 splice site probably benign
R1022:Stxbp1 UTSW 2 32814967 unclassified probably null
R1024:Stxbp1 UTSW 2 32814967 unclassified probably null
R1295:Stxbp1 UTSW 2 32794636 missense probably benign 0.18
R1296:Stxbp1 UTSW 2 32794636 missense probably benign 0.18
R1472:Stxbp1 UTSW 2 32794636 missense probably benign 0.18
R1699:Stxbp1 UTSW 2 32800617 missense probably damaging 0.99
R1744:Stxbp1 UTSW 2 32806719 critical splice donor site probably null
R2004:Stxbp1 UTSW 2 32798189 missense probably damaging 0.99
R2151:Stxbp1 UTSW 2 32802856 missense probably damaging 1.00
R2153:Stxbp1 UTSW 2 32802856 missense probably damaging 1.00
R2154:Stxbp1 UTSW 2 32802856 missense probably damaging 1.00
R5170:Stxbp1 UTSW 2 32794674 missense probably benign 0.01
R6083:Stxbp1 UTSW 2 32796018 missense possibly damaging 0.95
R6295:Stxbp1 UTSW 2 32794609 missense probably damaging 0.98
R6504:Stxbp1 UTSW 2 32801883 missense possibly damaging 0.95
R6770:Stxbp1 UTSW 2 32819889 missense probably benign 0.01
R6954:Stxbp1 UTSW 2 32801893 missense probably damaging 0.99
R7283:Stxbp1 UTSW 2 32815014 missense probably damaging 1.00
R7382:Stxbp1 UTSW 2 32798168 missense probably damaging 1.00
R7541:Stxbp1 UTSW 2 32818505 missense probably damaging 0.99
R7734:Stxbp1 UTSW 2 32801820 missense probably benign 0.00
RF010:Stxbp1 UTSW 2 32821915 missense probably benign 0.06
X0060:Stxbp1 UTSW 2 32802768 missense probably damaging 1.00
Z1177:Stxbp1 UTSW 2 32802754 missense probably null 1.00
Z1177:Stxbp1 UTSW 2 32809128 missense probably damaging 0.99
Posted On2014-05-07