Incidental Mutation 'IGL01145:Eya3'
ID 50981
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eya3
Ensembl Gene ENSMUSG00000028886
Gene Name EYA transcriptional coactivator and phosphatase 3
Synonyms
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # IGL01145
Quality Score
Status
Chromosome 4
Chromosomal Location 132366303-132452076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 132437306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 389 (I389V)
Ref Sequence ENSEMBL: ENSMUSP00000078157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020197] [ENSMUST00000079157] [ENSMUST00000081726] [ENSMUST00000180250]
AlphaFold P97480
Predicted Effect probably damaging
Transcript: ENSMUST00000020197
AA Change: I295V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: I295V

DomainStartEndE-ValueType
low complexity region 19 38 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
PDB:4EGC|B 132 416 1e-136 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000079157
AA Change: I389V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: I389V

DomainStartEndE-ValueType
low complexity region 72 89 N/A INTRINSIC
low complexity region 113 132 N/A INTRINSIC
low complexity region 165 177 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
PDB:4EGC|B 226 510 1e-135 PDB
SCOP:d1lvha_ 345 507 8e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000081726
AA Change: I405V

PolyPhen 2 Score 0.758 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: I405V

DomainStartEndE-ValueType
low complexity region 88 105 N/A INTRINSIC
low complexity region 129 148 N/A INTRINSIC
low complexity region 181 193 N/A INTRINSIC
low complexity region 208 219 N/A INTRINSIC
Pfam:Hydrolase 256 502 5.5e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130833
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142301
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145668
Predicted Effect probably damaging
Transcript: ENSMUST00000180250
AA Change: I295V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: I295V

DomainStartEndE-ValueType
low complexity region 19 38 N/A INTRINSIC
low complexity region 71 83 N/A INTRINSIC
low complexity region 98 109 N/A INTRINSIC
PDB:4EGC|B 132 416 1e-136 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157029
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 and have a role during development. It can act as a mediator of chemoresistance and cell survival in Ewing sarcoma cells, where this gene is up-regulated via a micro-RNA that binds to the 3' UTR of the transcript. A similar protein in mice acts as a transcriptional activator. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit abnormal heart function, decreased grip strength and increased exploratory behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 78,749,030 (GRCm39) D1267A probably damaging Het
Ankrd44 A G 1: 54,801,418 (GRCm39) probably null Het
Arap3 T C 18: 38,122,232 (GRCm39) M619V probably benign Het
C8b A T 4: 104,637,777 (GRCm39) Y83F probably benign Het
Capn15 A G 17: 26,182,024 (GRCm39) V595A probably damaging Het
Cbx1 A T 11: 96,692,392 (GRCm39) D93V probably benign Het
Cyp2c66 G T 19: 39,159,405 (GRCm39) E285D probably benign Het
Dkk4 T A 8: 23,115,402 (GRCm39) V84D probably damaging Het
Dnah17 T A 11: 117,937,999 (GRCm39) I3343F possibly damaging Het
Dus3l T C 17: 57,074,627 (GRCm39) probably benign Het
Ecpas A C 4: 58,811,501 (GRCm39) D1467E probably null Het
Eif6 A G 2: 155,668,355 (GRCm39) probably benign Het
Gm5916 A T 9: 36,031,998 (GRCm39) D95E unknown Het
Gucy2d T A 7: 98,099,170 (GRCm39) S329T probably benign Het
Hook3 C T 8: 26,549,372 (GRCm39) M157I probably benign Het
Iapp C A 6: 142,249,090 (GRCm39) R48S probably damaging Het
Ints11 A G 4: 155,969,583 (GRCm39) Y153C probably damaging Het
Layn G A 9: 50,985,346 (GRCm39) T62I probably benign Het
Llgl2 A G 11: 115,744,631 (GRCm39) H876R probably benign Het
Lrp4 T C 2: 91,317,396 (GRCm39) I840T probably damaging Het
Myo9a T A 9: 59,762,658 (GRCm39) F796L probably benign Het
Naip1 A G 13: 100,545,629 (GRCm39) S1300P probably benign Het
Nfat5 T A 8: 108,093,847 (GRCm39) I602N probably damaging Het
Omt2a T C 9: 78,220,238 (GRCm39) M64V probably benign Het
Pcnx1 T C 12: 82,038,809 (GRCm39) S2025P probably damaging Het
Pemt A G 11: 59,874,293 (GRCm39) L62P probably damaging Het
Polrmt A G 10: 79,576,971 (GRCm39) V399A probably benign Het
Rasgrp4 T C 7: 28,850,898 (GRCm39) S77P possibly damaging Het
Rrm2b G A 15: 37,944,804 (GRCm39) P111L probably damaging Het
Slc10a4-ps A T 5: 72,743,547 (GRCm39) probably null Het
Thap12 A G 7: 98,362,110 (GRCm39) *121W probably null Het
Tnik A G 3: 28,658,316 (GRCm39) probably benign Het
Trio G A 15: 27,818,253 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,310,407 (GRCm39) E930G probably damaging Het
Zfp335 G T 2: 164,749,422 (GRCm39) T299K probably benign Het
Other mutations in Eya3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Eya3 APN 4 132,431,709 (GRCm39) missense probably damaging 1.00
IGL01104:Eya3 APN 4 132,439,240 (GRCm39) missense probably damaging 1.00
IGL01109:Eya3 APN 4 132,420,311 (GRCm39) nonsense probably null
IGL02364:Eya3 APN 4 132,437,366 (GRCm39) missense probably damaging 1.00
IGL03008:Eya3 APN 4 132,434,294 (GRCm39) missense probably damaging 1.00
IGL03144:Eya3 APN 4 132,420,453 (GRCm39) missense probably benign 0.07
IGL03176:Eya3 APN 4 132,439,233 (GRCm39) missense possibly damaging 0.90
R0279:Eya3 UTSW 4 132,446,558 (GRCm39) missense probably damaging 1.00
R0621:Eya3 UTSW 4 132,422,113 (GRCm39) missense probably benign 0.00
R0893:Eya3 UTSW 4 132,417,097 (GRCm39) missense probably benign 0.01
R1416:Eya3 UTSW 4 132,434,440 (GRCm39) splice site probably benign
R1834:Eya3 UTSW 4 132,434,429 (GRCm39) missense probably damaging 0.99
R1903:Eya3 UTSW 4 132,448,663 (GRCm39) splice site probably null
R4696:Eya3 UTSW 4 132,397,543 (GRCm39) nonsense probably null
R4739:Eya3 UTSW 4 132,448,698 (GRCm39) utr 3 prime probably benign
R4758:Eya3 UTSW 4 132,422,196 (GRCm39) critical splice donor site probably null
R5061:Eya3 UTSW 4 132,431,689 (GRCm39) missense probably damaging 1.00
R5411:Eya3 UTSW 4 132,417,090 (GRCm39) missense probably damaging 0.99
R5479:Eya3 UTSW 4 132,400,244 (GRCm39) missense possibly damaging 0.91
R6117:Eya3 UTSW 4 132,439,173 (GRCm39) missense probably damaging 1.00
R6343:Eya3 UTSW 4 132,400,221 (GRCm39) missense probably damaging 0.96
R6443:Eya3 UTSW 4 132,439,238 (GRCm39) missense probably damaging 1.00
R6460:Eya3 UTSW 4 132,408,174 (GRCm39) missense probably damaging 0.97
R7116:Eya3 UTSW 4 132,422,110 (GRCm39) missense probably benign 0.00
R7418:Eya3 UTSW 4 132,408,159 (GRCm39) missense possibly damaging 0.92
R7594:Eya3 UTSW 4 132,422,136 (GRCm39) missense probably benign
R7624:Eya3 UTSW 4 132,400,262 (GRCm39) missense probably benign 0.41
R7811:Eya3 UTSW 4 132,439,272 (GRCm39) missense possibly damaging 0.64
R9140:Eya3 UTSW 4 132,428,411 (GRCm39) missense possibly damaging 0.55
R9642:Eya3 UTSW 4 132,426,374 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21