|Institutional Source||Beutler Lab|
|Gene Name||EYA transcriptional coactivator and phosphatase 4|
|Essential gene?||Essential (E-score: 1.000)|
|Stock #||R7358 (G1)|
|Chromosomal Location||23102963-23350786 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to T at 23123851 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000090335 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074366] [ENSMUST00000092665] [ENSMUST00000219315] [ENSMUST00000220299]|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may act as a transcriptional activator through its protein phosphatase activity, and it may be important for eye development, and for continued function of the mature organ of Corti. Mutations in this gene are associated with postlingual, progressive, autosomal dominant hearing loss at the deafness, autosomal dominant non-syndromic sensorineural 10 locus. The encoded protein is also a putative oncogene that mediates DNA repair, apoptosis, and innate immunity following DNA damage, cellular damage, and viral attack. Defects in this gene are also associated with dilated cardiomyopathy 1J. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]
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. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Eya4||
(F):5'- TGGAGGCCAATGTCTTCTAAG -3'
(R):5'- GCCTTCTCCAACAATATCTACCGAG -3'
(F):5'- CTCAAGAGCAGGAGTTTGCAGTC -3'
(R):5'- TTTCCAGGATCCCCCAAT -3'