Tecta - SNV Details



 Human Rare Diseases 
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Autosomal dominant nonsyndromic sensorineural deafness type DFNA

 Gene Information 
Gene Name Tecta
Old Gene Names for Tecta Tctna
Gene Description tectorin alpha [Source:MGI Symbol;Acc:MGI:109575]
MGI phenotype Homozygous null mice exhibit a tectorial membrane that is detached from the cochlear epithelium. Though the basilar membranes of mutant mice are tuned, sensitivity is attenuated. Mice with an Y1870C mutation have a disrupted tectorial membrane, elevated neural thresholds and broadened neural tuning.
Uniprot Name
CCDS Name
Gene GO
proteinaceous extracellular matrix; protein binding; sensory perception of sound; cell-matrix adhesion; anchored to membrane; plasma membrane; extracellular matrix structural constituent
Homolog in other species TECTA
Omim http://omim.org/entry/602574
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
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037705
Chromosome 9
Coordinate 42,337,193     (Assembly: GRCm38)    
Ref Base G
Codon Change aCa/aTa
Var Base A
Zygosity Heterozygous
Read Depth 45
Allele Frequency
G:R0.64
A:V0.36
Amino Acid Position 1966
Amino Acid Change T->I (Threonine -> Isoleucine)
Sample ID IGL02010
Median Base Quality 35
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 61 Other Mutations

 Predictions 
Polyphen Score 0.64
Polyphen Prediction Possibly damaging
Sift Score 0.1
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved