Incidental Mutation 'R0420:Eya4'
ID 37000
Institutional Source Beutler Lab
Gene Symbol Eya4
Ensembl Gene ENSMUSG00000010461
Gene Name EYA transcriptional coactivator and phosphatase 4
Synonyms B130023L16Rik
MMRRC Submission 038622-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0420 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 22978862-23226684 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 23031861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 254 (N254S)
Ref Sequence ENSEMBL: ENSMUSP00000151483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074366] [ENSMUST00000092665] [ENSMUST00000218049] [ENSMUST00000219315] [ENSMUST00000220299]
AlphaFold Q9Z191
Predicted Effect probably benign
Transcript: ENSMUST00000074366
AA Change: N231S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461
AA Change: N231S

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 probably benign
Transcript: ENSMUST00000092665
AA Change: N231S

PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: N231S

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 probably benign
Transcript: ENSMUST00000218049
Predicted Effect possibly damaging
Transcript: ENSMUST00000219315
AA Change: N254S

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000220299
AA Change: N231S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
Meta Mutation Damage Score 0.0698 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.2%
Validation Efficiency 100% (76/76)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,991,050 (GRCm39) V870A probably benign Het
Adam6b A T 12: 113,453,614 (GRCm39) M144L probably benign Het
Adrb2 T A 18: 62,312,610 (GRCm39) I72L possibly damaging Het
Ankrd53 A T 6: 83,740,674 (GRCm39) H99L probably damaging Het
Ap4e1 C T 2: 126,891,280 (GRCm39) T17M probably damaging Het
Arnt T A 3: 95,377,705 (GRCm39) probably benign Het
Atp1a3 C T 7: 24,680,052 (GRCm39) G884E probably benign Het
Atp6v1b1 T C 6: 83,729,826 (GRCm39) probably benign Het
Atp8a2 G T 14: 60,011,193 (GRCm39) T971K probably damaging Het
BC048562 A T 9: 108,323,165 (GRCm39) T167S probably benign Het
Brd9 A G 13: 74,103,592 (GRCm39) M491V probably benign Het
Btnl10 A T 11: 58,814,277 (GRCm39) D319V probably damaging Het
Cadps T A 14: 12,491,800 (GRCm38) R783S probably damaging Het
Ccdc149 A G 5: 52,557,581 (GRCm39) probably benign Het
Ccm2l A T 2: 152,912,782 (GRCm39) D107V probably null Het
Cep192 A G 18: 67,946,964 (GRCm39) E213G possibly damaging Het
Cyp2c37 A C 19: 39,984,238 (GRCm39) N242T probably benign Het
Dnah17 A G 11: 117,930,765 (GRCm39) V3750A probably damaging Het
Ehbp1 T A 11: 22,101,836 (GRCm39) I231L probably benign Het
Emilin3 A G 2: 160,752,799 (GRCm39) probably benign Het
Fam184b A G 5: 45,741,854 (GRCm39) S126P probably damaging Het
Fancd2 T C 6: 113,513,940 (GRCm39) L108P probably damaging Het
Fgf12 A T 16: 27,981,281 (GRCm39) M145K possibly damaging Het
Gabbr1 A G 17: 37,357,654 (GRCm39) N23S possibly damaging Het
Ggt1 T A 10: 75,412,047 (GRCm39) probably benign Het
Gm6434 T A 7: 25,581,786 (GRCm39) noncoding transcript Het
Grik4 A T 9: 42,533,392 (GRCm39) L376* probably null Het
Gvin3 T A 7: 106,203,090 (GRCm39) L51F probably damaging Het
Gzf1 A G 2: 148,525,753 (GRCm39) T75A probably benign Het
Hcn1 T C 13: 118,111,911 (GRCm39) I625T unknown Het
Hhat C T 1: 192,235,242 (GRCm39) probably null Het
Ifit1bl1 T C 19: 34,571,914 (GRCm39) E181G probably damaging Het
Kif21a T C 15: 90,852,257 (GRCm39) probably benign Het
Lrrc45 A C 11: 120,606,045 (GRCm39) S118R probably damaging Het
Mcm9 T C 10: 53,424,623 (GRCm39) I656V probably benign Het
Ms4a5 A G 19: 11,261,018 (GRCm39) L47S probably damaging Het
Mynn A T 3: 30,661,608 (GRCm39) N230I probably benign Het
Nck2 T C 1: 43,593,278 (GRCm39) S162P probably damaging Het
Nfat5 T C 8: 108,094,093 (GRCm39) F259S probably damaging Het
Obox1 T G 7: 15,290,178 (GRCm39) S174A possibly damaging Het
Ociad1 T A 5: 73,470,772 (GRCm39) probably null Het
Pgbd1 A T 13: 21,607,336 (GRCm39) V286E possibly damaging Het
Phlpp2 T C 8: 110,666,567 (GRCm39) V1032A probably damaging Het
Ppm1e C T 11: 87,131,440 (GRCm39) A318T probably damaging Het
Prex1 T A 2: 166,431,491 (GRCm39) D757V probably benign Het
Ptpdc1 C A 13: 48,742,595 (GRCm39) probably null Het
Rbbp5 T G 1: 132,421,582 (GRCm39) I94R possibly damaging Het
Rnpc3 A G 3: 113,415,518 (GRCm39) V173A probably benign Het
Sgsm1 A T 5: 113,411,625 (GRCm39) N700K probably benign Het
Slco1a8 T G 6: 141,931,203 (GRCm39) probably benign Het
Sox14 T A 9: 99,757,175 (GRCm39) H188L probably damaging Het
Spmip11 A G 15: 98,468,975 (GRCm39) S17G probably benign Het
Supt5 T A 7: 28,016,754 (GRCm39) probably benign Het
Synpo A G 18: 60,735,490 (GRCm39) S819P probably damaging Het
Tenm2 A G 11: 36,097,951 (GRCm39) probably benign Het
Tenm4 T C 7: 96,522,973 (GRCm39) V1468A possibly damaging Het
Tiam2 A G 17: 3,553,193 (GRCm39) N83S probably benign Het
Tle6 T C 10: 81,431,145 (GRCm39) probably benign Het
Tm2d2 T G 8: 25,508,130 (GRCm39) N91K probably damaging Het
Tmem132d T G 5: 127,941,710 (GRCm39) Q463H probably benign Het
Tmf1 A G 6: 97,153,102 (GRCm39) S324P probably damaging Het
Tnc T C 4: 63,918,396 (GRCm39) T1172A probably benign Het
Usp17lb A T 7: 104,489,746 (GRCm39) C393S probably benign Het
Usp42 G A 5: 143,700,616 (GRCm39) L1136F probably damaging Het
Vmn2r92 T G 17: 18,389,183 (GRCm39) M499R probably benign Het
Vps54 T A 11: 21,261,071 (GRCm39) probably benign Het
Wdr6 C T 9: 108,450,300 (GRCm39) R1076H probably benign Het
Wdr72 T A 9: 74,118,039 (GRCm39) M917K possibly damaging Het
Wee2 T C 6: 40,433,929 (GRCm39) V281A probably benign Het
Zc3h6 A G 2: 128,856,747 (GRCm39) D609G probably benign Het
Zfp345 G A 2: 150,315,163 (GRCm39) H125Y possibly damaging Het
Zhx2 A G 15: 57,685,236 (GRCm39) K202E probably damaging Het
Zic2 CCCACCACCACCATCACCACCACCACC CCCACCATCACCACCACCACC 14: 122,713,776 (GRCm39) 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
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
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'- TTGCAAGAGAGCAAGAACATGAG -3'
(R):5'- CCTCATCCATCACACAGCTACAA -3'

Sequencing Primer
(F):5'- AAGGGAGGGAGAAAAGGATG -3'
(R):5'- CAAGTGACCAGGTTTCAGTC -3'
Posted On 2013-05-09