Incidental Mutation 'IGL01350:Eya4'
ID75310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eya4
Ensembl Gene ENSMUSG00000010461
Gene NameEYA transcriptional coactivator and phosphatase 4
SynonymsB130023L16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01350
Quality Score
Status
Chromosome10
Chromosomal Location23102963-23350786 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23113974 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 495 (I495F)
Ref Sequence ENSEMBL: ENSMUSP00000151287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074366] [ENSMUST00000092665] [ENSMUST00000219315] [ENSMUST00000220299]
Predicted Effect possibly damaging
Transcript: ENSMUST00000074366
AA Change: I495F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000073970
Gene: ENSMUSG00000010461
AA Change: I495F

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: I495F

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000090335
Gene: ENSMUSG00000010461
AA Change: I495F

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 possibly damaging
Transcript: ENSMUST00000219315
AA Change: I518F

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
Predicted Effect possibly damaging
Transcript: ENSMUST00000220299
AA Change: I495F

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,458 I926T probably benign Het
Adam39 T A 8: 40,825,839 C422* probably null Het
Aldh1l1 A G 6: 90,559,356 N81S probably damaging Het
Amd1 A T 10: 40,290,190 Y264* probably null Het
Axl T C 7: 25,758,750 Y851C probably damaging Het
Ccdc70 T C 8: 21,973,674 L160P probably damaging Het
Cd2ap A T 17: 42,825,921 Y273* probably null Het
Cyb5rl T C 4: 107,084,212 V278A possibly damaging Het
Cyp2c29 T C 19: 39,330,327 F417S probably damaging Het
Dnah7b C A 1: 46,081,432 probably benign Het
Epha4 A T 1: 77,506,855 D172E probably damaging Het
Gpr150 A T 13: 76,056,423 H134Q probably benign Het
Gpr153 T G 4: 152,281,966 probably benign Het
Hipk2 A G 6: 38,818,315 Y333H probably damaging Het
Jakmip1 T C 5: 37,085,431 M21T probably benign Het
Kcnh3 A T 15: 99,241,992 I920F probably benign Het
Lrp2 G A 2: 69,510,984 R951C probably damaging Het
Msi1 A G 5: 115,435,521 K126R possibly damaging Het
Nkx2-6 T A 14: 69,174,773 F130Y probably damaging Het
Olfr1045 A G 2: 86,197,805 *316Q probably null Het
Olfr478 T C 7: 108,031,680 Y221C probably damaging Het
Olfr533 G T 7: 140,466,379 M59I probably damaging Het
Onecut2 T A 18: 64,341,089 L218Q probably damaging Het
Pah T A 10: 87,578,359 probably benign Het
Per2 C T 1: 91,430,861 E602K probably damaging Het
Plb1 C T 5: 32,317,064 T623M probably damaging Het
Prkaa2 T C 4: 105,051,912 probably null Het
Prl7b1 T A 13: 27,602,821 T142S probably damaging Het
Psd3 T C 8: 67,720,892 H1090R probably damaging Het
Siglecf G T 7: 43,355,895 probably benign Het
Tas2r118 A G 6: 23,969,747 V105A probably damaging Het
Thnsl1 T C 2: 21,212,200 V255A probably benign Het
Tmprss5 T A 9: 49,109,457 *84K probably null Het
Trrap C T 5: 144,830,969 L2579F possibly damaging Het
Vdac1 A G 11: 52,385,662 T211A probably benign Het
Vmn1r16 A T 6: 57,322,731 V302D possibly damaging Het
Wdr75 T A 1: 45,818,260 C572* probably null Het
Xpc A G 6: 91,500,011 S369P probably benign Het
Zdhhc20 A G 14: 57,873,987 V52A probably benign Het
Zfp977 T C 7: 42,580,666 Y145C probably damaging Het
Other mutations in Eya4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00435:Eya4 APN 10 23159097 missense probably benign 0.17
IGL00507:Eya4 APN 10 23157536 nonsense probably null
IGL01324:Eya4 APN 10 23116551 critical splice donor site probably null
IGL01397:Eya4 APN 10 23139999 missense probably benign 0.01
IGL02682:Eya4 APN 10 23116600 missense probably damaging 1.00
IGL02688:Eya4 APN 10 23159110 missense probably benign 0.01
IGL03071:Eya4 APN 10 23323073 missense probably benign 0.07
R0420:Eya4 UTSW 10 23155963 missense possibly damaging 0.85
R1688:Eya4 UTSW 10 23123861 missense probably damaging 1.00
R2312:Eya4 UTSW 10 23106264 missense probably damaging 1.00
R3029:Eya4 UTSW 10 23123878 missense probably benign
R3853:Eya4 UTSW 10 23116676 missense probably damaging 1.00
R3872:Eya4 UTSW 10 23155972 missense probably damaging 0.97
R4113:Eya4 UTSW 10 23155951 missense probably damaging 0.98
R4210:Eya4 UTSW 10 23226800 critical splice donor site probably null
R4457:Eya4 UTSW 10 23116668 missense probably damaging 1.00
R4691:Eya4 UTSW 10 23140068 missense probably benign 0.03
R4894:Eya4 UTSW 10 23109854 missense possibly damaging 0.55
R5345:Eya4 UTSW 10 23110048 missense probably benign 0.00
R5473:Eya4 UTSW 10 23163453 missense probably benign 0.02
R5547:Eya4 UTSW 10 23109854 missense possibly damaging 0.55
R5698:Eya4 UTSW 10 23140077 missense possibly damaging 0.50
R5951:Eya4 UTSW 10 23155994 missense probably damaging 1.00
R5953:Eya4 UTSW 10 23151973 missense probably damaging 1.00
R6111:Eya4 UTSW 10 23140055 missense possibly damaging 0.67
R6413:Eya4 UTSW 10 23116826 missense probably damaging 1.00
R6460:Eya4 UTSW 10 23152012 missense probably benign 0.05
R7144:Eya4 UTSW 10 23173045 missense probably benign 0.00
R7169:Eya4 UTSW 10 23155947 missense probably benign 0.42
R7358:Eya4 UTSW 10 23123851 critical splice donor site probably null
R7549:Eya4 UTSW 10 23111658 missense probably damaging 1.00
R7791:Eya4 UTSW 10 23113926 missense probably damaging 1.00
R7793:Eya4 UTSW 10 23226816 missense probably benign
Z1088:Eya4 UTSW 10 23113988 missense probably damaging 1.00
Posted On2013-10-07