Tnxb - SNV Details



 Human Rare Diseases 
Ehlers-Danlos syndrome, hypermobility type
Ehlers-Danlos syndrome, classic-like type

 Gene Information 
Gene Name Tnxb
Old Gene Names for Tnxb Tnx
Gene Description tenascin XB [Source:MGI Symbol;Acc:MGI:1932137]
MGI phenotype Homozygous null mice have stretchy skin, similar to patients with human Ehlers-Danlos syndrome.
Uniprot Name
CCDS Name
Gene GO
lipid metabolic process; extracellular matrix; fatty acid metabolic process; proteinaceous extracellular matrix; defense response; intracellular; collagen fibril organization; protein binding; single organismal cell-cell adhesion; elastic fiber assembly; extracellular vesicular exosome; extracellular fibril organization; heparin binding; fibrillar collagen trimer; cell-matrix adhesion; extracellular matrix organization; extracellular region; triglyceride metabolic process; collagen metabolic process; extracellular space; regulation of JUN kinase activity; collagen binding
Homolog in other species TNXB
Omim http://omim.org/entry/600985
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033327
Chromosome 17
Coordinate 34,709,654     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 158
Allele Frequency
T:R0.47
A:V0.53
Amino Acid Change Y->N (Tyrosine -> Asparagine)
Sample ID IGL02965
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 

 Availability Details 
Availability Progeny Cryopreserved