Incidental Mutation 'R5547:Eya4'
ID 436353
Institutional Source Beutler Lab
Gene Symbol Eya4
Ensembl Gene ENSMUSG00000010461
Gene Name EYA transcriptional coactivator and phosphatase 4
Synonyms B130023L16Rik
MMRRC Submission 043105-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5547 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 22978862-23226684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22985753 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 583 (E583G)
Ref Sequence ENSEMBL: ENSMUSP00000090335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074366] [ENSMUST00000092665] [ENSMUST00000219315] [ENSMUST00000220299]
AlphaFold Q9Z191
Predicted Effect probably benign
Transcript: ENSMUST00000074366
SMART Domains Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461

DomainStartEndE-ValueType
low complexity region 49 72 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
PDB:4EGC|B 336 616 1e-163 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000092665
AA Change: E583G

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: E583G

DomainStartEndE-ValueType
low complexity region 49 72 N/A INTRINSIC
low complexity region 231 243 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
PDB:4EGC|B 336 616 1e-172 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218867
Predicted Effect probably benign
Transcript: ENSMUST00000219315
AA Change: E606G

PolyPhen 2 Score 0.411 (Sensitivity: 0.89; Specificity: 0.90)
Predicted Effect probably benign
Transcript: ENSMUST00000220299
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype 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
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A G 18: 56,661,356 (GRCm39) S492P probably damaging Het
Arfgef1 A T 1: 10,231,201 (GRCm39) D1133E probably damaging Het
Avpi1 T C 19: 42,113,382 (GRCm39) K25R probably damaging Het
Bank1 T C 3: 135,772,110 (GRCm39) S708G probably damaging Het
C1qtnf2 A G 11: 43,381,794 (GRCm39) E202G probably damaging Het
C6 T A 15: 4,837,970 (GRCm39) V860E probably benign Het
Cbr1 T A 16: 93,406,698 (GRCm39) V138E probably damaging Het
Cdip1 A G 16: 4,587,988 (GRCm39) S2P probably damaging Het
Cep126 T C 9: 8,100,428 (GRCm39) N702S probably damaging Het
Chek1 T C 9: 36,623,400 (GRCm39) I381V probably benign Het
Clock G A 5: 76,378,185 (GRCm39) P572S probably benign Het
Cryz C T 3: 154,317,194 (GRCm39) R138* probably null Het
Ctsll3 T A 13: 60,948,551 (GRCm39) M103L probably benign Het
Daxx TGATGATGACGATGATGACGATGATGA TGATGATGACGATGATGA 17: 34,131,615 (GRCm39) probably benign Het
Daxx CGATGATGATGA CGA 17: 34,131,633 (GRCm39) probably benign Het
Dsg1a T G 18: 20,469,097 (GRCm39) probably null Het
Flt1 T A 5: 147,591,948 (GRCm39) S505C probably damaging Het
Gpr161 C A 1: 165,133,982 (GRCm39) F81L possibly damaging Het
H2-T15 G A 17: 36,368,796 (GRCm39) H95Y possibly damaging Het
Hmcn1 A G 1: 150,613,257 (GRCm39) V1390A possibly damaging Het
Ifi44l C T 3: 151,467,142 (GRCm39) V63I unknown Het
Klhl3 C T 13: 58,250,243 (GRCm39) probably null Het
Lekr1 T A 3: 65,576,601 (GRCm39) probably null Het
Lhx5 A G 5: 120,572,675 (GRCm39) Q98R probably benign Het
Nuggc A G 14: 65,879,330 (GRCm39) K681E possibly damaging Het
Numa1 G T 7: 101,663,137 (GRCm39) A735S probably damaging Het
Oog3 A T 4: 143,884,598 (GRCm39) L446Q probably benign Het
Or5ac19 G A 16: 59,089,479 (GRCm39) L184F probably benign Het
Otogl C T 10: 107,617,909 (GRCm39) E1735K possibly damaging Het
Pcsk5 T C 19: 17,729,488 (GRCm39) D119G probably benign Het
Pgpep1 T C 8: 71,105,069 (GRCm39) K64E probably benign Het
Prr19 A C 7: 25,003,388 (GRCm39) D334A probably damaging Het
Ptprh G T 7: 4,557,221 (GRCm39) S691* probably null Het
Recql4 G A 15: 76,589,994 (GRCm39) R684* probably null Het
Rnf112 C T 11: 61,341,854 (GRCm39) V317I possibly damaging Het
Rnf40 T C 7: 127,188,302 (GRCm39) probably null Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Spag17 T C 3: 99,963,468 (GRCm39) V1062A probably benign Het
Tbc1d1 A G 5: 64,481,887 (GRCm39) D696G possibly damaging Het
Tdo2 T C 3: 81,866,247 (GRCm39) R339G probably damaging Het
Tmem245 C T 4: 56,910,156 (GRCm39) probably null Het
Trim24 A G 6: 37,942,485 (GRCm39) E965G probably damaging Het
Trmt112 T C 19: 6,888,156 (GRCm39) S103P probably damaging Het
Trpv6 A T 6: 41,613,088 (GRCm39) V26D possibly damaging Het
Zfp850 A G 7: 27,688,844 (GRCm39) C455R probably damaging Het
Zfp946 T C 17: 22,673,873 (GRCm39) I209T probably benign Het
Zfp957 T C 14: 79,451,406 (GRCm39) N131S probably benign Het
Other mutations in Eya4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Eya4 APN 10 23,034,995 (GRCm39) missense probably benign 0.17
IGL00507:Eya4 APN 10 23,033,434 (GRCm39) nonsense probably null
IGL01324:Eya4 APN 10 22,992,449 (GRCm39) critical splice donor site probably null
IGL01350:Eya4 APN 10 22,989,873 (GRCm39) missense possibly damaging 0.88
IGL01397:Eya4 APN 10 23,015,897 (GRCm39) missense probably benign 0.01
IGL02682:Eya4 APN 10 22,992,498 (GRCm39) missense probably damaging 1.00
IGL02688:Eya4 APN 10 23,035,008 (GRCm39) missense probably benign 0.01
IGL03071:Eya4 APN 10 23,198,971 (GRCm39) missense probably benign 0.07
R0420:Eya4 UTSW 10 23,031,861 (GRCm39) missense possibly damaging 0.85
R1688:Eya4 UTSW 10 22,999,759 (GRCm39) missense probably damaging 1.00
R2312:Eya4 UTSW 10 22,982,163 (GRCm39) missense probably damaging 1.00
R3029:Eya4 UTSW 10 22,999,776 (GRCm39) missense probably benign
R3853:Eya4 UTSW 10 22,992,574 (GRCm39) missense probably damaging 1.00
R3872:Eya4 UTSW 10 23,031,870 (GRCm39) missense probably damaging 0.97
R4113:Eya4 UTSW 10 23,031,849 (GRCm39) missense probably damaging 0.98
R4210:Eya4 UTSW 10 23,102,698 (GRCm39) critical splice donor site probably null
R4457:Eya4 UTSW 10 22,992,566 (GRCm39) missense probably damaging 1.00
R4691:Eya4 UTSW 10 23,015,966 (GRCm39) missense probably benign 0.03
R4894:Eya4 UTSW 10 22,985,753 (GRCm39) missense possibly damaging 0.55
R5345:Eya4 UTSW 10 22,985,947 (GRCm39) missense probably benign 0.00
R5473:Eya4 UTSW 10 23,039,351 (GRCm39) missense probably benign 0.02
R5698:Eya4 UTSW 10 23,015,975 (GRCm39) missense possibly damaging 0.50
R5951:Eya4 UTSW 10 23,031,892 (GRCm39) missense probably damaging 1.00
R5953:Eya4 UTSW 10 23,027,871 (GRCm39) missense probably damaging 1.00
R6111:Eya4 UTSW 10 23,015,953 (GRCm39) missense possibly damaging 0.67
R6413:Eya4 UTSW 10 22,992,724 (GRCm39) missense probably damaging 1.00
R6460:Eya4 UTSW 10 23,027,910 (GRCm39) missense probably benign 0.05
R7144:Eya4 UTSW 10 23,048,943 (GRCm39) missense probably benign 0.00
R7169:Eya4 UTSW 10 23,031,845 (GRCm39) missense probably benign 0.42
R7358:Eya4 UTSW 10 22,999,749 (GRCm39) critical splice donor site probably null
R7549:Eya4 UTSW 10 22,987,557 (GRCm39) missense probably damaging 1.00
R7791:Eya4 UTSW 10 22,989,825 (GRCm39) missense probably damaging 1.00
R7793:Eya4 UTSW 10 23,102,714 (GRCm39) missense probably benign
R8550:Eya4 UTSW 10 22,982,157 (GRCm39) missense probably damaging 1.00
R8553:Eya4 UTSW 10 22,982,157 (GRCm39) missense probably damaging 1.00
R8556:Eya4 UTSW 10 22,982,157 (GRCm39) missense probably damaging 1.00
R8703:Eya4 UTSW 10 23,039,340 (GRCm39) missense probably benign 0.00
R9332:Eya4 UTSW 10 22,989,845 (GRCm39) missense probably damaging 0.97
R9361:Eya4 UTSW 10 22,985,766 (GRCm39) missense probably damaging 1.00
R9408:Eya4 UTSW 10 22,999,805 (GRCm39) missense
R9497:Eya4 UTSW 10 22,987,458 (GRCm39) critical splice donor site probably null
R9713:Eya4 UTSW 10 23,027,870 (GRCm39) nonsense probably null
Z1088:Eya4 UTSW 10 22,989,887 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTATTTGCAGGCCCACATCG -3'
(R):5'- TCAGGCAAGGAAAGCTGTTTTG -3'

Sequencing Primer
(F):5'- GGCCCACATCGACTCTCTCATG -3'
(R):5'- GTGTCCAGATTTGGCACTAAC -3'
Posted On 2016-10-24