Eya4 - SNV Details



 Human Rare Diseases 
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Sensorineural deafness with dilated cardiomyopathy

 Gene Information 
Gene Name Eya4
Old Gene Names for Eya4 B130023l16rik
Gene Description eyes absent 4 homolog (Drosophila) [Source:MGI Symbol;Acc:MGI:1337104]
MGI phenotype Homozygous null mice show strain background-dependent postnatal lethality, reduced body weight, male sterility, a delay in palate bone fusion, developmental defects in the eustachian tube and middle ear cavity, early-onset hearing deficits, and profound susceptibility to otitis media with effusion.
Uniprot Name
CCDS Name
Gene GO
inner ear development; regulation of transcription
DNA-templated; cytoplasm; metal ion binding; middle ear morphogenesis; DNA repair; protein tyrosine phosphatase activity; nucleus; sensory perception of sound; chromatin modification; cellular_component; peptidyl-tyrosine dephosphorylation; multicellular organismal development; transcription
DNA-templated; molecular_function
Homolog in other species EYA4
Omim http://omim.org/entry/603550
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN C2C12, M1)
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000010461
Chromosome 10
Coordinate 23,159,110     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.58
G:V0.42
Amino Acid Change S->P (Serine -> Proline)
Sample ID IGL02688
Median Base Quality 36
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 25 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign

 Availability Details 
Availability Cryopreserved