Incidental Mutation 'IGL02993:Stxbp2'
ID 407025
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp2
Ensembl Gene ENSMUSG00000004626
Gene Name syntaxin binding protein 2
Synonyms muSec1, Munc18b, Munc-18-2, C79054, Sxtp2, Munc-18b
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02993
Quality Score
Status
Chromosome 8
Chromosomal Location 3630955-3643644 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3641971 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 538 (I538F)
Ref Sequence ENSEMBL: ENSMUSP00000125405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160708]
AlphaFold Q64324
Predicted Effect unknown
Transcript: ENSMUST00000004745
AA Change: I538F
SMART Domains Protein: ENSMUSP00000004745
Gene: ENSMUSG00000004626
AA Change: I538F

DomainStartEndE-ValueType
Pfam:Sec1 29 580 6.8e-113 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000159370
AA Change: I69F
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159652
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160435
Predicted Effect probably benign
Transcript: ENSMUST00000160708
AA Change: I538F

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000125405
Gene: ENSMUSG00000004626
AA Change: I538F

DomainStartEndE-ValueType
Pfam:Sec1 29 579 4.9e-112 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161629
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162047
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162832
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 member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit complete preweaning lethality. Mice heterozygous for this allele exhibit decreased stimulated mucin secretion, release of histones in stimulated mast cells and decreased susceptibility to type I hypersensitivity reaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,971,719 Y351H probably damaging Het
5830411N06Rik A G 7: 140,296,573 T537A probably benign Het
Abcd3 A C 3: 121,774,010 I434S probably benign Het
Actr2 C T 11: 20,072,514 R319Q probably damaging Het
Atp13a5 G T 16: 29,293,504 Y606* probably null Het
Baiap3 C T 17: 25,250,082 probably null Het
Cers2 A G 3: 95,320,085 Y8C probably benign Het
Ces1g T A 8: 93,317,079 M411L probably benign Het
Chd6 A G 2: 161,052,384 probably benign Het
Cyp2d40 C A 15: 82,761,521 K94N probably benign Het
Ddx51 T C 5: 110,655,621 V323A possibly damaging Het
Dock1 G A 7: 134,744,298 V190I probably benign Het
Evc2 A G 5: 37,419,157 T1042A probably benign Het
Fat4 T A 3: 38,957,155 S2135T probably damaging Het
Gpat2 T C 2: 127,427,566 F46S probably damaging Het
Klhl38 T A 15: 58,322,455 K293* probably null Het
Map4k4 T C 1: 40,014,188 I916T probably damaging Het
Nrap T A 19: 56,345,533 K964M probably damaging Het
Osbpl5 T C 7: 143,699,334 probably null Het
Perm1 A G 4: 156,217,779 Q260R probably benign Het
Ralgapb T A 2: 158,437,394 N133K possibly damaging Het
Slfn9 T C 11: 82,981,196 S905G probably benign Het
Ssh2 C T 11: 77,453,544 T785I probably damaging Het
Stk16 C A 1: 75,213,004 Q69K probably damaging Het
Stk36 T C 1: 74,622,287 L491P probably benign Het
Tcp11 T C 17: 28,070,516 N194D probably damaging Het
Trio C A 15: 27,830,239 probably benign Het
Ugt2b1 A G 5: 86,921,991 V297A possibly damaging Het
Ugt2b5 T G 5: 87,137,232 H282P probably damaging Het
Usp53 A G 3: 122,933,843 M1030T probably damaging Het
Vmn1r234 T A 17: 21,229,703 I293N probably damaging Het
Vmn2r57 T A 7: 41,428,074 T223S probably benign Het
Wdr20 G T 12: 110,794,308 E543* probably null Het
Zbtb25 T A 12: 76,349,417 N344Y probably damaging Het
Zcchc2 T C 1: 106,030,168 F790L probably damaging Het
Other mutations in Stxbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Stxbp2 APN 8 3636354 critical splice acceptor site probably null
IGL00466:Stxbp2 APN 8 3634065 missense probably benign 0.29
IGL02315:Stxbp2 APN 8 3635607 unclassified probably benign
IGL02508:Stxbp2 APN 8 3632531 missense probably damaging 1.00
IGL02811:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02833:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02868:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02869:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02896:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02926:Stxbp2 APN 8 3635629 missense probably benign 0.31
IGL02927:Stxbp2 APN 8 3642685 missense possibly damaging 0.95
IGL02928:Stxbp2 APN 8 3641736 missense probably damaging 0.99
IGL02943:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02945:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02948:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02951:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02972:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02976:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02977:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL02983:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL03008:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL03009:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL03038:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL03051:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL03061:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL03072:Stxbp2 APN 8 3641971 missense probably benign 0.44
IGL03110:Stxbp2 APN 8 3633342 missense probably damaging 1.00
IGL02988:Stxbp2 UTSW 8 3633267 intron probably benign
R0463:Stxbp2 UTSW 8 3632559 missense probably damaging 1.00
R0608:Stxbp2 UTSW 8 3632559 missense probably damaging 1.00
R0755:Stxbp2 UTSW 8 3642019 missense probably benign 0.01
R1328:Stxbp2 UTSW 8 3642657 missense possibly damaging 0.56
R1771:Stxbp2 UTSW 8 3634064 missense probably benign 0.01
R1962:Stxbp2 UTSW 8 3642672 missense probably benign 0.00
R2195:Stxbp2 UTSW 8 3634615 splice site probably null
R2319:Stxbp2 UTSW 8 3633834 missense possibly damaging 0.95
R3614:Stxbp2 UTSW 8 3631196 missense possibly damaging 0.94
R3870:Stxbp2 UTSW 8 3634079 missense probably damaging 1.00
R3876:Stxbp2 UTSW 8 3633369 critical splice donor site probably null
R4703:Stxbp2 UTSW 8 3632521 missense probably damaging 1.00
R6533:Stxbp2 UTSW 8 3642683 missense probably benign 0.01
R6623:Stxbp2 UTSW 8 3632561 missense probably damaging 1.00
R6665:Stxbp2 UTSW 8 3641998 missense probably benign 0.41
R6798:Stxbp2 UTSW 8 3641180 missense probably benign
R7152:Stxbp2 UTSW 8 3632583 missense probably benign 0.33
R7326:Stxbp2 UTSW 8 3641151 missense
R8237:Stxbp2 UTSW 8 3635695 missense
R8268:Stxbp2 UTSW 8 3632234 missense
R8709:Stxbp2 UTSW 8 3633914 missense possibly damaging 0.50
R8811:Stxbp2 UTSW 8 3639541 missense
R9018:Stxbp2 UTSW 8 3642627 intron probably benign
R9043:Stxbp2 UTSW 8 3634478 missense
R9048:Stxbp2 UTSW 8 3637218 missense
R9212:Stxbp2 UTSW 8 3636220 missense
R9421:Stxbp2 UTSW 8 3632264 missense
Z1177:Stxbp2 UTSW 8 3641123 missense probably benign
Posted On 2016-08-02