Incidental Mutation 'R6111:Eya4'
ID 484852
Institutional Source Beutler Lab
Gene Symbol Eya4
Ensembl Gene ENSMUSG00000010461
Gene Name EYA transcriptional coactivator and phosphatase 4
Synonyms B130023L16Rik
MMRRC Submission 044260-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6111 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 22978862-23226684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 23015953 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 338 (D338V)
Ref Sequence ENSEMBL: ENSMUSP00000151483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074366] [ENSMUST00000092665] [ENSMUST00000219315] [ENSMUST00000220299]
AlphaFold Q9Z191
Predicted Effect probably benign
Transcript: ENSMUST00000074366
AA Change: D315V

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461
AA Change: D315V

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: D315V

PolyPhen 2 Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: D315V

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 possibly damaging
Transcript: ENSMUST00000219315
AA Change: D338V

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000220299
AA Change: D315V

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
Meta Mutation Damage Score 0.0733 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A G 13: 77,476,021 (GRCm39) E1110G possibly damaging Het
Abcd4 G A 12: 84,661,888 (GRCm39) T79I probably damaging Het
Acd A G 8: 106,424,919 (GRCm39) M407T probably benign Het
Adcy2 T A 13: 68,877,360 (GRCm39) H460L probably damaging Het
Atad2 G A 15: 57,971,487 (GRCm39) H752Y probably benign Het
Bmal2 T C 6: 146,722,097 (GRCm39) F223L probably benign Het
Camsap2 A G 1: 136,209,036 (GRCm39) S819P probably benign Het
Col24a1 C A 3: 145,019,815 (GRCm39) T62K probably damaging Het
Cpne6 G A 14: 55,752,091 (GRCm39) V283M probably benign Het
D630003M21Rik A G 2: 158,055,368 (GRCm39) S590P probably damaging Het
Daam1 T A 12: 71,989,038 (GRCm39) M146K unknown Het
Dclk2 A G 3: 86,712,968 (GRCm39) Y495H probably benign Het
Ddx4 A T 13: 112,757,766 (GRCm39) C330* probably null Het
Dlec1 T C 9: 118,931,692 (GRCm39) L37P possibly damaging Het
Dock2 G A 11: 34,599,614 (GRCm39) P322S probably damaging Het
Espl1 A G 15: 102,208,323 (GRCm39) E443G probably damaging Het
Fcmr A G 1: 130,805,566 (GRCm39) I267V probably damaging Het
Gfra3 T A 18: 34,823,927 (GRCm39) H349L probably damaging Het
Gm25747 A G 12: 113,392,703 (GRCm39) probably benign Het
Gria4 G A 9: 4,502,430 (GRCm39) R368C probably damaging Het
H2-Q5 A T 17: 35,613,885 (GRCm39) I145F possibly damaging Het
Hace1 A T 10: 45,465,606 (GRCm39) K54I possibly damaging Het
Ift122 T A 6: 115,852,247 (GRCm39) I79N probably damaging Het
Ino80b A G 6: 83,101,347 (GRCm39) V121A probably damaging Het
Kcnq1 A G 7: 142,661,474 (GRCm39) T63A probably benign Het
Map4k4 C A 1: 40,050,822 (GRCm39) Q762K probably benign Het
Mios G A 6: 8,214,836 (GRCm39) A11T probably benign Het
Nfatc1 A G 18: 80,741,125 (GRCm39) S278P probably damaging Het
Notch2 T C 3: 98,053,609 (GRCm39) S2091P probably benign Het
Nudt19 T A 7: 35,254,952 (GRCm39) D93V probably benign Het
Or8b12b T C 9: 37,684,228 (GRCm39) I91T probably damaging Het
Osbpl2 A G 2: 179,791,994 (GRCm39) T233A probably benign Het
P3h1 C T 4: 119,098,329 (GRCm39) R369* probably null Het
Pcdhb3 A T 18: 37,435,242 (GRCm39) I403L probably benign Het
Pigo T C 4: 43,019,724 (GRCm39) D935G probably benign Het
Plpp1 A G 13: 113,003,451 (GRCm39) H224R probably damaging Het
Rai1 T A 11: 60,078,732 (GRCm39) M932K probably damaging Het
Rexo2 A T 9: 48,384,412 (GRCm39) F122L probably damaging Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Sdc3 A G 4: 130,546,153 (GRCm39) T77A unknown Het
Skint5 T C 4: 113,562,845 (GRCm39) T786A unknown Het
Smok3c C A 5: 138,063,365 (GRCm39) P284Q probably damaging Het
Spg11 A G 2: 121,923,963 (GRCm39) V786A probably damaging Het
Tmem273 T C 14: 32,528,755 (GRCm39) I40T possibly damaging Het
Tnfrsf10b T A 14: 70,020,007 (GRCm39) C380S possibly damaging Het
Tsen54 T C 11: 115,710,956 (GRCm39) V176A possibly damaging Het
Ttll4 A T 1: 74,736,698 (GRCm39) K1141M possibly damaging Het
Ttpa A T 4: 20,014,772 (GRCm39) I116F probably damaging Het
Tubgcp6 T C 15: 88,985,123 (GRCm39) D1655G possibly damaging Het
Usp38 A G 8: 81,740,551 (GRCm39) V172A probably damaging Het
Vmn2r73 A G 7: 85,520,997 (GRCm39) S324P probably benign Het
Wdr72 T C 9: 74,117,607 (GRCm39) M773T probably benign Het
Xirp2 T A 2: 67,342,161 (GRCm39) H1467Q possibly damaging Het
Zdhhc8 G T 16: 18,042,762 (GRCm39) S479R probably damaging Het
Zfp423 A G 8: 88,509,315 (GRCm39) V322A probably damaging Het
Zfp87 T G 13: 74,520,504 (GRCm39) E191D probably benign Het
Zfp933 T C 4: 147,913,217 (GRCm39) T14A probably damaging 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
R5547:Eya4 UTSW 10 22,985,753 (GRCm39) missense possibly damaging 0.55
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
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'- GTAGTTACATTTCACAGAGCTCAC -3'
(R):5'- CTGGGTTCTATGAGGAAGTCAATG -3'

Sequencing Primer
(F):5'- GTTACATTTCACAGAGCTCACAAATG -3'
(R):5'- GTCACAAAGAGGTCATTAATG -3'
Posted On 2017-08-16