Incidental Mutation 'IGL02948:Stxbp2'
ID364845
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp2
Ensembl Gene ENSMUSG00000004626
Gene Namesyntaxin binding protein 2
SynonymsmuSec1, Munc18b, Munc-18-2, C79054, Sxtp2, Munc-18b
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02948
Quality Score
Status
Chromosome8
Chromosomal Location3630955-3643644 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3641971 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 538 (I538F)
Ref Sequence ENSEMBL: ENSMUSP00000125405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160708]
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,094,319 probably benign Het
Ano3 A T 2: 110,697,018 probably benign Het
Arpp21 T C 9: 112,176,200 Y193C probably damaging Het
Atm G A 9: 53,453,440 probably benign Het
Ceacam13 C T 7: 18,011,063 probably benign Het
Cenpi T A X: 134,349,268 C599S possibly damaging Het
Clec7a A C 6: 129,465,478 D195E possibly damaging Het
Cnksr1 T C 4: 134,235,106 probably null Het
Cntn1 A G 15: 92,246,010 T285A probably benign Het
Dusp4 G T 8: 34,818,572 G329V probably damaging Het
Emb C A 13: 117,273,066 probably benign Het
Esyt1 A T 10: 128,519,171 S496T probably damaging Het
Evpl T C 11: 116,221,822 T1681A probably damaging Het
Fam131b A C 6: 42,320,992 probably benign Het
Fam162b T C 10: 51,587,296 M92V probably damaging Het
Fbxw2 T C 2: 34,805,711 *455W probably null Het
Gm12886 A G 4: 121,423,037 L14P unknown Het
Gpc4 A T X: 52,074,301 V235E probably damaging Het
Gss A G 2: 155,577,621 L170P probably damaging Het
Hbs1l C T 10: 21,341,711 probably benign Het
Hhatl T C 9: 121,789,791 M92V probably benign Het
Hhla1 A T 15: 65,942,693 L194H probably damaging Het
Hivep2 C A 10: 14,129,013 R452S probably benign Het
Homer2 C A 7: 81,649,645 W24L probably damaging Het
Lhcgr A T 17: 88,742,622 L492H probably damaging Het
Lrba C A 3: 86,310,384 probably null Het
Lrp2 G T 2: 69,487,837 P2090Q probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Madd T A 2: 91,142,827 M1497L probably benign Het
Naprt C T 15: 75,892,357 R336Q probably damaging Het
Nars A G 18: 64,505,195 C266R possibly damaging Het
Olfr1420 T A 19: 11,896,781 Y253* probably null Het
Olfr175-ps1 T A 16: 58,824,088 Q207L probably benign Het
Pard3 A T 8: 127,306,494 T190S probably benign Het
Pstpip2 A G 18: 77,854,807 N86S probably benign Het
Ptgfrn T C 3: 101,072,819 T402A probably benign Het
Rnf130 T C 11: 50,052,771 probably benign Het
Ropn1l T C 15: 31,451,179 D53G possibly damaging Het
Rps6ka2 G A 17: 7,254,450 probably null Het
Rtn2 T C 7: 19,293,111 S17P probably damaging Het
Shank2 T C 7: 144,409,636 V327A probably benign Het
Slc22a16 T G 10: 40,573,962 Y131* probably null Het
Slc28a2 T A 2: 122,457,977 M583K possibly damaging Het
Slco1a6 G T 6: 142,133,235 probably null Het
Slfn8 T A 11: 83,003,252 I854F probably damaging Het
Strip1 T C 3: 107,613,266 R823G probably benign Het
Tcl1b5 C T 12: 105,179,014 T79M probably benign Het
Tmem104 G T 11: 115,197,296 A36S probably damaging Het
Trim55 T A 3: 19,670,952 L211Q probably damaging Het
Trim80 T C 11: 115,441,593 W204R possibly damaging Het
Ttbk1 G A 17: 46,446,330 T1126I probably benign Het
Ubqln2 C T X: 153,499,696 Q415* probably null Het
Unc13a C T 8: 71,650,549 R931H possibly damaging Het
Utp4 T A 8: 106,894,641 S17T probably benign 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
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
IGL02993: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
Z1177:Stxbp2 UTSW 8 3641123 missense probably benign
Posted On2015-12-18