Incidental Mutation 'IGL03008:Eya3'
ID 407670
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 # IGL03008
Quality Score
Status
Chromosome 4
Chromosomal Location 132366303-132452076 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 132434294 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 325 (D325A)
Ref Sequence ENSEMBL: ENSMUSP00000078157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020197] [ENSMUST00000079157] [ENSMUST00000081726] [ENSMUST00000180250]
AlphaFold P97480
Predicted Effect possibly damaging
Transcript: ENSMUST00000020197
AA Change: D231A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: D231A

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: D325A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: D325A

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 probably damaging
Transcript: ENSMUST00000081726
AA Change: D341A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: D341A

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 possibly damaging
Transcript: ENSMUST00000180250
AA Change: D231A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: D231A

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: ENSMUST00000157029
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153809
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aga T C 8: 53,964,861 (GRCm39) S8P probably benign Het
Ankrd34c C T 9: 89,612,337 (GRCm39) M1I probably null Het
Ankrd44 T C 1: 54,805,968 (GRCm39) H146R probably damaging Het
Bst1 A G 5: 43,983,604 (GRCm39) probably null Het
Btbd8 T G 5: 107,639,464 (GRCm39) probably null Het
Cdh12 A T 15: 21,480,416 (GRCm39) I211F probably damaging Het
Cenpj G T 14: 56,764,406 (GRCm39) D1335E probably benign Het
Clpx G A 9: 65,230,057 (GRCm39) V502I possibly damaging Het
Cntnap4 T C 8: 113,500,222 (GRCm39) S505P probably benign Het
Cog2 T C 8: 125,262,131 (GRCm39) probably benign Het
Cped1 A G 6: 22,233,601 (GRCm39) Q819R probably benign Het
Cspg4 A G 9: 56,805,759 (GRCm39) E2190G possibly damaging Het
Ctsa G A 2: 164,679,368 (GRCm39) R359Q probably damaging Het
Cul9 A G 17: 46,813,623 (GRCm39) probably benign Het
Dab1 G T 4: 104,584,777 (GRCm39) V306F probably damaging Het
Dysf A G 6: 84,050,876 (GRCm39) I438V probably benign Het
Eif4g3 G T 4: 137,847,699 (GRCm39) G380W probably damaging Het
Exd1 T A 2: 119,350,862 (GRCm39) K466N probably benign Het
Fmn1 A G 2: 113,195,445 (GRCm39) T382A unknown Het
Fry T A 5: 150,269,021 (GRCm39) D106E possibly damaging Het
Gm21957 T A 7: 124,818,733 (GRCm39) noncoding transcript Het
Gm44511 A G 6: 128,761,059 (GRCm39) probably benign Het
Itga4 A G 2: 79,155,982 (GRCm39) I983V probably benign Het
Lrpprc A T 17: 85,058,675 (GRCm39) D5E probably benign Het
Lrrc37 T C 11: 103,511,293 (GRCm39) E225G unknown Het
Ltbp4 G T 7: 27,023,789 (GRCm39) N747K probably damaging Het
Minar1 A G 9: 89,478,731 (GRCm39) Y772H probably damaging Het
Mlh3 T C 12: 85,287,625 (GRCm39) Q1308R probably benign Het
Mtfr2 T A 10: 20,229,185 (GRCm39) C63S possibly damaging Het
Myh11 T A 16: 14,022,617 (GRCm39) M1661L probably benign Het
Myo1c T C 11: 75,549,240 (GRCm39) M137T probably benign Het
Myocd A C 11: 65,078,392 (GRCm39) L340V probably damaging Het
Napsa A T 7: 44,235,220 (GRCm39) Q335L possibly damaging Het
Nlrp4b C A 7: 10,448,516 (GRCm39) Q240K probably benign Het
Npepps A C 11: 97,128,984 (GRCm39) F400C probably damaging Het
Nxpe4 A T 9: 48,304,738 (GRCm39) E275V probably benign Het
Ofd1 T C X: 165,192,530 (GRCm39) D501G probably benign Het
Or13a19 T C 7: 139,903,445 (GRCm39) Y278H probably damaging Het
Or4f6 A G 2: 111,838,868 (GRCm39) I221T possibly damaging Het
Or5p79 T G 7: 108,221,490 (GRCm39) L157R probably damaging Het
Or8k41 A T 2: 86,313,678 (GRCm39) M136K probably damaging Het
P2ry1 A T 3: 60,910,947 (GRCm39) T29S probably benign Het
Papss1 T C 3: 131,290,860 (GRCm39) V201A possibly damaging Het
Paxip1 A G 5: 27,957,764 (GRCm39) V864A probably benign Het
Pcdhgc5 T A 18: 37,954,887 (GRCm39) H720Q probably benign Het
Pdxdc1 T C 16: 13,694,023 (GRCm39) N133S possibly damaging Het
Prkar1a T C 11: 109,544,690 (GRCm39) I27T probably damaging Het
Rnf10 G T 5: 115,389,355 (GRCm39) H271N possibly damaging Het
Scn9a A G 2: 66,392,855 (GRCm39) S246P probably damaging Het
Sertad2 G T 11: 20,597,798 (GRCm39) probably benign Het
Slc22a27 A G 19: 7,887,067 (GRCm39) I274T possibly damaging Het
Slc22a5 A T 11: 53,782,058 (GRCm39) V103E probably damaging Het
Slc5a9 A T 4: 111,748,138 (GRCm39) F225I probably benign Het
Slc6a3 G A 13: 73,706,404 (GRCm39) probably null Het
Smcr8 A G 11: 60,669,287 (GRCm39) E145G probably damaging Het
Spen A T 4: 141,203,448 (GRCm39) D1726E possibly damaging Het
Sphkap A T 1: 83,254,552 (GRCm39) S779T probably damaging Het
Stag1 A T 9: 100,658,844 (GRCm39) N144Y probably damaging Het
Strada T C 11: 106,061,783 (GRCm39) H156R probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tas2r138 A C 6: 40,590,116 (GRCm39) D43E probably damaging Het
Tdpoz3 A T 3: 93,733,642 (GRCm39) K106* probably null Het
Trbv13-1 A G 6: 41,093,229 (GRCm39) D54G probably damaging Het
Ttc39b A G 4: 83,165,932 (GRCm39) V218A probably benign Het
Ttn G A 2: 76,611,203 (GRCm39) T15697I probably damaging Het
Ugt2b38 G A 5: 87,560,282 (GRCm39) T344I probably benign Het
Vmn2r94 T C 17: 18,477,908 (GRCm39) M168V probably benign Het
Wdr11 T C 7: 129,208,715 (GRCm39) probably benign Het
Wipf2 T C 11: 98,783,554 (GRCm39) probably benign Het
Zranb2 T A 3: 157,252,302 (GRCm39) probably null 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
IGL01145:Eya3 APN 4 132,437,306 (GRCm39) missense probably damaging 1.00
IGL02364:Eya3 APN 4 132,437,366 (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 2016-08-02