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; signal transduction; fibrillar collagen; fatty acid metabolic process; proteinaceous extracellular matrix; intracellular; collagen fibril organization; protein binding; cell-cell adhesion; elastic fiber assembly; fibril organization; heparin binding; cell-matrix adhesion; extracellular matrix organization; extracellular region; receptor binding; 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 34,685,701     (Assembly: GRCm38)    
Ref Base G
Codon Change Gac/Aac
Var Base A
Zygosity Heterozygous
Read Depth 32
Allele Frequency
G:R0.50
A:V0.50
Amino Acid Position 1147
Amino Acid Change D->N (Aspartic acid -> Asparagine)
Sample ID IGL01473
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Protein domains 
ENSMUSP00000127487:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000127487 Smart 1119
1197 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000127487 Pfam 1123
1194 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000127487 Superfamily 1116
1206 Description available Search pathways
Fibronectin, type III Fibronectin_type3 IPR003961 ENSMUSP00000127487 Prosite_profiles 1119
1205 Description available Search pathways

 Availability Details 
Availability Cryopreserved