Incidental Mutation 'IGL03038:Stxbp2'
ID 408788
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Stxbp2
Ensembl Gene ENSMUSG00000004626
Gene Name syntaxin binding protein 2
Synonyms muSec1, C79054, Sxtp2, Munc18b, Munc-18b, Munc-18-2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03038
Quality Score
Status
Chromosome 8
Chromosomal Location 3680955-3693644 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 3691971 bp (GRCm39)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,030,185 (GRCm39) Y111H probably damaging Het
Arhgef6 C T X: 56,290,966 (GRCm39) V262I probably benign Het
Arsk C A 13: 76,213,632 (GRCm39) probably benign Het
Ces1b T C 8: 93,793,680 (GRCm39) E303G probably benign Het
Chst9 T C 18: 15,628,360 (GRCm39) Q55R probably benign Het
Cntnap3 A T 13: 64,888,839 (GRCm39) D1153E possibly damaging Het
D130043K22Rik A G 13: 25,063,602 (GRCm39) E681G probably damaging Het
Fhad1 T C 4: 141,729,805 (GRCm39) E66G probably benign Het
Flii T C 11: 60,615,658 (GRCm39) T69A probably benign Het
Foxl1 A C 8: 121,855,158 (GRCm39) E153A probably damaging Het
Gstm3 T C 3: 107,873,485 (GRCm39) D162G possibly damaging Het
Gtpbp3 G A 8: 71,941,947 (GRCm39) V96I possibly damaging Het
Insig2 G A 1: 121,247,403 (GRCm39) T56I probably damaging Het
Kif13a A G 13: 46,926,314 (GRCm39) L264P probably damaging Het
Lama3 T G 18: 12,552,307 (GRCm39) C420G probably damaging Het
Lrp2 C T 2: 69,305,808 (GRCm39) G2918S probably damaging Het
Lrrc8b T C 5: 105,629,358 (GRCm39) L568P probably damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Malrd1 G A 2: 16,132,778 (GRCm39) D1900N unknown Het
Mastl C A 2: 23,030,627 (GRCm39) probably benign Het
Med24 T G 11: 98,607,010 (GRCm39) T276P possibly damaging Het
Naip1 A C 13: 100,573,841 (GRCm39) Y239* probably null Het
Nhsl2 A G X: 101,122,491 (GRCm39) K765E probably damaging Het
Npy A G 6: 49,800,588 (GRCm39) N4S probably benign Het
Nsun2 A G 13: 69,767,703 (GRCm39) D188G probably damaging Het
Or6c88 A G 10: 129,406,790 (GRCm39) T89A probably benign Het
Pde1a C A 2: 79,718,290 (GRCm39) probably benign Het
Pik3cb G A 9: 98,947,650 (GRCm39) A509V probably damaging Het
Pou2f2 C T 7: 24,796,577 (GRCm39) S315N probably damaging Het
Prdm2 A C 4: 142,860,571 (GRCm39) S906R probably damaging Het
Prkaca C A 8: 84,721,580 (GRCm39) Q300K probably benign Het
Prox2 T C 12: 85,142,038 (GRCm39) D55G possibly damaging Het
Ryr3 T A 2: 112,498,465 (GRCm39) T3612S possibly damaging Het
S1pr1 T A 3: 115,506,343 (GRCm39) I84L possibly damaging Het
Slc47a1 C T 11: 61,243,918 (GRCm39) V384M probably benign Het
Slc6a20b T C 9: 123,426,394 (GRCm39) N497S possibly damaging Het
Spen C A 4: 141,265,550 (GRCm39) R3L unknown Het
Ttll6 T C 11: 96,042,786 (GRCm39) F444S probably damaging Het
Vwce T A 19: 10,624,035 (GRCm39) Y309N possibly damaging Het
Vwf T C 6: 125,581,120 (GRCm39) L586P possibly damaging Het
Wdr35 T C 12: 9,024,185 (GRCm39) probably benign Het
Other mutations in Stxbp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Stxbp2 APN 8 3,686,354 (GRCm39) critical splice acceptor site probably null
IGL00466:Stxbp2 APN 8 3,684,065 (GRCm39) missense probably benign 0.29
IGL02315:Stxbp2 APN 8 3,685,607 (GRCm39) unclassified probably benign
IGL02508:Stxbp2 APN 8 3,682,531 (GRCm39) missense probably damaging 1.00
IGL02811:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02833:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02868:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02869:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02896:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02926:Stxbp2 APN 8 3,685,629 (GRCm39) missense probably benign 0.31
IGL02927:Stxbp2 APN 8 3,692,685 (GRCm39) missense possibly damaging 0.95
IGL02928:Stxbp2 APN 8 3,691,736 (GRCm39) missense probably damaging 0.99
IGL02943:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02945:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02948:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02951:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02972:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02976:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02977:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02983:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL02993:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL03008:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL03009:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL03051:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL03061:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL03072:Stxbp2 APN 8 3,691,971 (GRCm39) missense probably benign 0.44
IGL03110:Stxbp2 APN 8 3,683,342 (GRCm39) missense probably damaging 1.00
IGL02988:Stxbp2 UTSW 8 3,683,267 (GRCm39) intron probably benign
R0463:Stxbp2 UTSW 8 3,682,559 (GRCm39) missense probably damaging 1.00
R0608:Stxbp2 UTSW 8 3,682,559 (GRCm39) missense probably damaging 1.00
R0755:Stxbp2 UTSW 8 3,692,019 (GRCm39) missense probably benign 0.01
R1328:Stxbp2 UTSW 8 3,692,657 (GRCm39) missense possibly damaging 0.56
R1771:Stxbp2 UTSW 8 3,684,064 (GRCm39) missense probably benign 0.01
R1962:Stxbp2 UTSW 8 3,692,672 (GRCm39) missense probably benign 0.00
R2195:Stxbp2 UTSW 8 3,684,615 (GRCm39) splice site probably null
R2319:Stxbp2 UTSW 8 3,683,834 (GRCm39) missense possibly damaging 0.95
R3614:Stxbp2 UTSW 8 3,681,196 (GRCm39) missense possibly damaging 0.94
R3870:Stxbp2 UTSW 8 3,684,079 (GRCm39) missense probably damaging 1.00
R3876:Stxbp2 UTSW 8 3,683,369 (GRCm39) critical splice donor site probably null
R4703:Stxbp2 UTSW 8 3,682,521 (GRCm39) missense probably damaging 1.00
R6533:Stxbp2 UTSW 8 3,692,683 (GRCm39) missense probably benign 0.01
R6623:Stxbp2 UTSW 8 3,682,561 (GRCm39) missense probably damaging 1.00
R6665:Stxbp2 UTSW 8 3,691,998 (GRCm39) missense probably benign 0.41
R6798:Stxbp2 UTSW 8 3,691,180 (GRCm39) missense probably benign
R7152:Stxbp2 UTSW 8 3,682,583 (GRCm39) missense probably benign 0.33
R7326:Stxbp2 UTSW 8 3,691,151 (GRCm39) missense
R8237:Stxbp2 UTSW 8 3,685,695 (GRCm39) missense
R8268:Stxbp2 UTSW 8 3,682,234 (GRCm39) missense
R8709:Stxbp2 UTSW 8 3,683,914 (GRCm39) missense possibly damaging 0.50
R8811:Stxbp2 UTSW 8 3,689,541 (GRCm39) missense
R9018:Stxbp2 UTSW 8 3,692,627 (GRCm39) intron probably benign
R9043:Stxbp2 UTSW 8 3,684,478 (GRCm39) missense
R9048:Stxbp2 UTSW 8 3,687,218 (GRCm39) missense
R9212:Stxbp2 UTSW 8 3,686,220 (GRCm39) missense
R9421:Stxbp2 UTSW 8 3,682,264 (GRCm39) missense
R9643:Stxbp2 UTSW 8 3,686,392 (GRCm39) missense
Z1177:Stxbp2 UTSW 8 3,691,123 (GRCm39) missense probably benign
Posted On 2016-08-02