Stx11 - SNV Details



 Human Rare Diseases 
Familial hemophagocytic lymphohistiocytosis

 Gene Information 
Gene Name Stx11
Old Gene Names for Stx11 5830405c08rik
Gene Description syntaxin 11 [Source:MGI Symbol;Acc:MGI:1921982]
Uniprot Name
CCDS Name
Gene GO
membrane; intracellular; protein binding; intracellular protein transport; vesicle-mediated transport; SNAP receptor activity
Homolog in other species STX11
Omim http://omim.org/entry/605014
Immgen Expression
MEDIAN(HIGH IN GN.BM)
Gnf Expression
LOW/MEDIAN(HIGH IN IMM GROUP, OSTEO GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039232
Chromosome 10
Coordinate 12,941,480     (Assembly: GRCm38)    
Ref Base T
Codon Change Atc/Gtc
Var Base C
Zygosity Heterozygous
Read Depth 131
Allele Frequency
T:R0.53
C:V0.46
Amino Acid Position 167
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL02096
Median Base Quality 34
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 49 Other Mutations

 Predictions 
Polyphen Score 0.61
Polyphen Prediction Possibly damaging
Sift Score 0.07
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved