Incidental Mutation 'R7793:Eya4'
ID 600057
Institutional Source Beutler Lab
Gene Symbol Eya4
Ensembl Gene ENSMUSG00000010461
Gene Name EYA transcriptional coactivator and phosphatase 4
Synonyms B130023L16Rik
MMRRC Submission 045849-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7793 (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 23102714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 23 (E23D)
Ref Sequence ENSEMBL: ENSMUSP00000090335 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074366] [ENSMUST00000092665] [ENSMUST00000218049] [ENSMUST00000219315] [ENSMUST00000220299]
AlphaFold Q9Z191
Predicted Effect probably benign
Transcript: ENSMUST00000074366
AA Change: E23D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461
AA Change: E23D

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: E23D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: E23D

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 probably benign
Transcript: ENSMUST00000219315
AA Change: E23D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000220299
AA Change: E23D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (94/94)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002J24Rik T G 7: 30,399,368 (GRCm39) I54S probably damaging Het
2310002L09Rik C T 4: 73,861,172 (GRCm39) V143M probably benign Het
Abca1 T C 4: 53,042,367 (GRCm39) I1902V not run Het
Apob A C 12: 8,058,124 (GRCm39) D2202A probably damaging Het
Arhgap44 T A 11: 64,900,750 (GRCm39) S623C probably damaging Het
Arhgef7 T A 8: 11,874,507 (GRCm39) W713R possibly damaging Het
Axdnd1 A C 1: 156,166,313 (GRCm39) probably null Het
Bcl9l C A 9: 44,420,994 (GRCm39) H1467N probably damaging Het
Bcl9l T C 9: 44,420,263 (GRCm39) M1223T probably benign Het
Bltp2 C T 11: 78,164,031 (GRCm39) P1124L possibly damaging Het
Brinp3 A G 1: 146,622,306 (GRCm39) N236S probably benign Het
Cckbr T G 7: 105,082,798 (GRCm39) L54V probably benign Het
Cd6 G A 19: 10,775,722 (GRCm39) Q246* probably null Het
Cep89 G A 7: 35,129,353 (GRCm39) R630H probably damaging Het
Ces3a T A 8: 105,782,293 (GRCm39) probably null Het
Cgnl1 T A 9: 71,632,917 (GRCm39) N145Y probably damaging Het
Col6a5 T C 9: 105,775,934 (GRCm39) D1707G probably damaging Het
Cyp2w1 A G 5: 139,341,895 (GRCm39) T103A probably damaging Het
Dip2a A T 10: 76,114,417 (GRCm39) I1021N probably benign Het
Dnah2 T C 11: 69,386,040 (GRCm39) T981A probably benign Het
Dnah8 A G 17: 31,074,918 (GRCm39) I4546V probably benign Het
E2f8 A C 7: 48,527,823 (GRCm39) F106L probably benign Het
Ecpas T C 4: 58,853,150 (GRCm39) N395S probably damaging Het
Eif4g1 G A 16: 20,507,364 (GRCm39) V1413I probably benign Het
Epha10 G A 4: 124,808,246 (GRCm39) V688I probably benign Het
Exoc2 A T 13: 31,095,161 (GRCm39) V245D probably benign Het
Fbxw10 T A 11: 62,738,213 (GRCm39) W36R possibly damaging Het
Gabbr1 G A 17: 37,358,393 (GRCm39) G44S probably benign Het
Gabrg3 T A 7: 56,829,328 (GRCm39) Q143L probably benign Het
Gm14412 A C 2: 177,007,660 (GRCm39) I78M possibly damaging Het
Gm7298 T C 6: 121,737,563 (GRCm39) probably null Het
Hpse2 A T 19: 43,376,509 (GRCm39) L81Q probably damaging Het
Il18r1 A G 1: 40,510,924 (GRCm39) H3R probably benign Het
Kansl1l T C 1: 66,817,173 (GRCm39) K396E probably damaging Het
Kbtbd3 T A 9: 4,331,221 (GRCm39) S532T probably damaging Het
Lrrtm4 T C 6: 79,999,841 (GRCm39) Y418H probably damaging Het
Mfng G A 15: 78,657,265 (GRCm39) R70C probably damaging Het
Mx2 T A 16: 97,348,083 (GRCm39) I236K probably damaging Het
Mysm1 T C 4: 94,853,369 (GRCm39) Q410R probably damaging Het
Nlrp12 T C 7: 3,294,030 (GRCm39) N100S probably benign Het
Nlrp4b T A 7: 10,459,001 (GRCm39) H773Q probably benign Het
Nlrp5 T A 7: 23,123,343 (GRCm39) S735T possibly damaging Het
Nt5c2 G A 19: 46,880,020 (GRCm39) R363W probably benign Het
Or12k8 A G 2: 36,974,933 (GRCm39) F276L possibly damaging Het
Or3a10 T A 11: 73,935,614 (GRCm39) H162L possibly damaging Het
Otud7b A T 3: 96,062,528 (GRCm39) Y589F probably benign Het
P2rx1 T A 11: 72,900,079 (GRCm39) C165* probably null Het
Pax8 T C 2: 24,319,609 (GRCm39) D354G possibly damaging Het
Pdcd11 G A 19: 47,094,871 (GRCm39) V552I probably benign Het
Pde6c G T 19: 38,148,201 (GRCm39) C485F possibly damaging Het
Pex5 T C 6: 124,376,300 (GRCm39) Y434C probably benign Het
Ppargc1a T C 5: 51,619,851 (GRCm39) probably null Het
Prss2 A T 6: 41,501,886 (GRCm39) D224V possibly damaging Het
Psd2 A G 18: 36,136,032 (GRCm39) N440S probably benign Het
Psmb3 T A 11: 97,603,265 (GRCm39) D159E probably benign Het
Ptgr2 T G 12: 84,354,575 (GRCm39) L252R probably damaging Het
Ptpro A T 6: 137,393,818 (GRCm39) N829Y probably damaging Het
Rhobtb2 C A 14: 70,034,280 (GRCm39) R315L probably benign Het
Rimbp2 A T 5: 128,866,759 (GRCm39) V520D possibly damaging Het
Schip1 A T 3: 68,401,911 (GRCm39) Y24F probably benign Het
Sdha A T 13: 74,479,555 (GRCm39) V432E probably damaging Het
Sez6 T C 11: 77,868,426 (GRCm39) L929P probably damaging Het
Shcbp1l A G 1: 153,323,571 (GRCm39) I466V probably benign Het
Skor1 T C 9: 63,052,167 (GRCm39) S601G probably damaging Het
Slc6a7 A C 18: 61,138,851 (GRCm39) L219R probably damaging Het
Smok2a T C 17: 13,444,513 (GRCm39) M30T possibly damaging Het
Sp8 A G 12: 118,813,144 (GRCm39) D333G probably damaging Het
Spp1 G A 5: 104,588,200 (GRCm39) D201N probably damaging Het
Sstr3 A T 15: 78,424,588 (GRCm39) L53Q probably damaging Het
Tacc2 T A 7: 130,224,843 (GRCm39) N509K probably benign Het
Tdrd1 T C 19: 56,852,809 (GRCm39) V1030A probably damaging Het
Tfrc A G 16: 32,437,985 (GRCm39) K346R probably benign Het
Tgm3 G A 2: 129,854,330 (GRCm39) probably null Het
Tomm5 C A 4: 45,106,651 (GRCm39) L88F unknown Het
Trak1 T A 9: 121,245,264 (GRCm39) C46* probably null Het
Trim8 A T 19: 46,504,053 (GRCm39) D535V probably damaging Het
Trpm7 A T 2: 126,665,995 (GRCm39) Y870* probably null Het
Tspoap1 T C 11: 87,655,136 (GRCm39) L286P probably benign Het
Ttll3 AAGTA AAGTAGAGTA 6: 113,376,120 (GRCm39) probably null Het
Ttn T A 2: 76,562,389 (GRCm39) I28819F probably damaging Het
Twf2 T C 9: 106,089,079 (GRCm39) S89P probably damaging Het
Ulk4 C T 9: 121,092,734 (GRCm39) E168K possibly damaging Het
Unc13b T A 4: 43,172,737 (GRCm39) N1188K unknown Het
Utp6 C T 11: 79,828,556 (GRCm39) V528I probably benign Het
Vmn1r78 T C 7: 11,887,241 (GRCm39) F284S probably benign Het
Vmn2r54 T A 7: 12,366,196 (GRCm39) Q246L probably damaging Het
Vmn2r87 A G 10: 130,313,413 (GRCm39) M451T probably benign Het
Vwf C T 6: 125,663,483 (GRCm39) P2808L Het
Wdr97 T C 15: 76,243,307 (GRCm39) L989P Het
Wwc1 T C 11: 35,759,936 (GRCm39) Q693R probably benign Het
Zfp582 C T 7: 6,356,886 (GRCm39) S233L probably damaging Het
Zfp658 T A 7: 43,224,108 (GRCm39) H794Q possibly damaging Het
Zfp882 A G 8: 72,666,985 (GRCm39) D8G 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
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
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'- TTGCCAGATATGCACTCTATCTGTC -3'
(R):5'- TTGGCAGCTGTTCCTGTGAC -3'

Sequencing Primer
(F):5'- AGATATGCACTCTATCTGTCTATCC -3'
(R):5'- GCAGCTGTTCCTGTGACAATAATG -3'
Posted On 2019-11-26