Incidental Mutation 'R1903:Eya3'
ID 209911
Institutional Source Beutler Lab
Gene Symbol Eya3
Ensembl Gene ENSMUSG00000028886
Gene Name EYA transcriptional coactivator and phosphatase 3
Synonyms
MMRRC Submission 039923-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.780) question?
Stock # R1903 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 132366303-132452076 bp(+) (GRCm39)
Type of Mutation splice site (3545 bp from exon)
DNA Base Change (assembly) T to A at 132448663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000041205 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020197] [ENSMUST00000045550] [ENSMUST00000079157] [ENSMUST00000081726] [ENSMUST00000180250]
AlphaFold P97480
Predicted Effect probably damaging
Transcript: ENSMUST00000020197
AA Change: F415Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: F415Y

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 null
Transcript: ENSMUST00000045550
SMART Domains Protein: ENSMUSP00000041205
Gene: ENSMUSG00000037752

DomainStartEndE-ValueType
Pfam:XK-related 14 345 2.3e-87 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000079157
AA Change: F509Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: F509Y

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: F525Y

PolyPhen 2 Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: F525Y

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 probably damaging
Transcript: ENSMUST00000180250
AA Change: F415Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: F415Y

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: ENSMUST00000145668
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157029
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.7%
  • 10x: 95.0%
  • 20x: 91.8%
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: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A C 9: 57,165,635 (GRCm39) S246R possibly damaging Het
Abca13 C T 11: 9,416,411 (GRCm39) R4058C probably benign Het
Acacb A T 5: 114,303,795 (GRCm39) R73* probably null Het
Adam22 C T 5: 8,184,525 (GRCm39) C489Y probably damaging Het
Agap3 A T 5: 24,698,011 (GRCm39) K460I probably damaging Het
Ak4 T C 4: 101,320,833 (GRCm39) I214T possibly damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Arrb2 T A 11: 70,328,808 (GRCm39) H221Q probably damaging Het
Atl1 T G 12: 70,006,049 (GRCm39) F452V probably damaging Het
Atp8b5 A G 4: 43,357,063 (GRCm39) T604A probably damaging Het
Bglap3 T C 3: 88,276,068 (GRCm39) I95V probably benign Het
Ccdc88a G T 11: 29,411,788 (GRCm39) M532I probably benign Het
Ccnl1 A G 3: 65,854,332 (GRCm39) S430P possibly damaging Het
Cdhr18 C T 14: 13,829,657 (GRCm38) S695N possibly damaging Het
Cdk5rap2 A T 4: 70,321,791 (GRCm39) probably null Het
Cep126 A T 9: 8,120,748 (GRCm39) Y92N possibly damaging Het
Cfap44 A C 16: 44,242,737 (GRCm39) T714P probably benign Het
Cnga1 T G 5: 72,774,068 (GRCm39) D90A possibly damaging Het
Cnot1 T C 8: 96,469,749 (GRCm39) I1369V possibly damaging Het
Coq3 T C 4: 21,910,466 (GRCm39) S314P probably damaging Het
Crhr1 A G 11: 104,060,675 (GRCm39) R151G probably damaging Het
Crybg2 A G 4: 133,806,167 (GRCm39) I930V probably damaging Het
Ctcf T A 8: 106,402,620 (GRCm39) probably null Het
Dct T C 14: 118,271,690 (GRCm39) N380S probably benign Het
Decr2 A T 17: 26,306,387 (GRCm39) L83Q probably damaging Het
Depdc5 CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT 5: 33,067,751 (GRCm39) probably benign Het
Dgkb T C 12: 38,216,776 (GRCm39) probably null Het
Dnah1 T C 14: 31,041,716 (GRCm39) D85G probably damaging Het
Dnah7a T C 1: 53,574,637 (GRCm39) D1709G probably damaging Het
Dnajc13 A C 9: 104,106,136 (GRCm39) L346R probably damaging Het
Dsc1 A T 18: 20,229,045 (GRCm39) V415D probably damaging Het
Duox2 T A 2: 122,125,832 (GRCm39) I296F probably damaging Het
Ece2 T A 16: 20,463,922 (GRCm39) L890H probably damaging Het
Ecsit A G 9: 21,987,815 (GRCm39) S75P possibly damaging Het
Enpp3 A G 10: 24,654,687 (GRCm39) C664R probably damaging Het
Evpl G T 11: 116,117,854 (GRCm39) D778E probably damaging Het
Fam217b A T 2: 178,062,374 (GRCm39) I113F probably benign Het
Galnt6 G A 15: 100,613,999 (GRCm39) P101S possibly damaging Het
Gm379 G A X: 107,707,870 (GRCm39) Q210* probably null Het
Grk4 A T 5: 34,833,531 (GRCm39) probably null Het
Gtf3c4 A G 2: 28,729,968 (GRCm39) V91A probably benign Het
Hcfc2 G T 10: 82,538,392 (GRCm39) G143V probably damaging Het
Heatr4 A C 12: 84,005,221 (GRCm39) H710Q probably damaging Het
Htr3a A T 9: 48,817,681 (GRCm39) D97E probably damaging Het
Htr4 T G 18: 62,561,193 (GRCm39) F151L probably benign Het
Il22ra1 A T 4: 135,478,219 (GRCm39) Q430L probably damaging Het
Invs T A 4: 48,402,824 (GRCm39) probably null Het
Ip6k1 G A 9: 107,918,195 (GRCm39) E77K possibly damaging Het
Irs1 T C 1: 82,267,182 (GRCm39) S345G probably damaging Het
Kdm4a A G 4: 118,017,596 (GRCm39) V490A probably benign Het
Kif26a C T 12: 112,141,974 (GRCm39) R743C probably damaging Het
Kif28 A G 1: 179,530,088 (GRCm39) V691A possibly damaging Het
Klhl5 T A 5: 65,324,330 (GRCm39) L696Q probably benign Het
Krtap5-1 T C 7: 141,850,084 (GRCm39) probably benign Het
Lama2 A C 10: 27,064,395 (GRCm39) D1195E probably damaging Het
Lamb1 T G 12: 31,379,209 (GRCm39) L1722R probably damaging Het
Lrp11 T A 10: 7,499,544 (GRCm39) L245Q probably damaging Het
Ltbp2 T C 12: 84,876,879 (GRCm39) E422G probably benign Het
Man2b1 T A 8: 85,813,451 (GRCm39) D214E probably damaging Het
Mlxipl A T 5: 135,162,422 (GRCm39) D628V possibly damaging Het
Msantd5f6 T A 4: 73,321,675 (GRCm39) Y120F probably damaging Het
Myo18b G A 5: 112,840,624 (GRCm39) R2390C probably damaging Het
Mypn T A 10: 62,959,176 (GRCm39) R1048S probably benign Het
Napepld A G 5: 21,870,270 (GRCm39) S383P probably damaging Het
Napsa A G 7: 44,231,160 (GRCm39) T130A probably damaging Het
Nbr1 T C 11: 101,465,978 (GRCm39) I716T probably damaging Het
Nexn A T 3: 151,953,818 (GRCm39) M212K probably damaging Het
Nlrp9b T A 7: 19,757,182 (GRCm39) S140T probably benign Het
Nxpe2 T C 9: 48,230,906 (GRCm39) T488A probably benign Het
Or10g3 T G 14: 52,610,174 (GRCm39) Q112P possibly damaging Het
Or10v1 A T 19: 11,873,913 (GRCm39) Y176F probably benign Het
Or5ac25 A T 16: 59,182,526 (GRCm39) D18E probably benign Het
Or7g12 A T 9: 18,900,192 (GRCm39) K303* probably null Het
Or8k20 C T 2: 86,106,190 (GRCm39) V214I probably benign Het
Osbpl5 T C 7: 143,256,918 (GRCm39) D404G possibly damaging Het
Pan2 T G 10: 128,144,237 (GRCm39) L162R probably damaging Het
Parp1 G T 1: 180,416,235 (GRCm39) V545F probably damaging Het
Pcdh18 A G 3: 49,709,896 (GRCm39) V473A probably benign Het
Plb1 A T 5: 32,448,582 (GRCm39) N350I probably damaging Het
Polr1a A G 6: 71,944,898 (GRCm39) K1318R probably benign Het
Ppp1r18 C T 17: 36,184,738 (GRCm39) P130S probably damaging Het
Prss48 C T 3: 85,905,614 (GRCm39) W86* probably null Het
Rab3c A T 13: 110,220,744 (GRCm39) I137N probably damaging Het
Rab3gap2 G C 1: 184,954,099 (GRCm39) R57P probably benign Het
Rad54l2 A C 9: 106,570,916 (GRCm39) probably null Het
Ralgapb C A 2: 158,337,483 (GRCm39) N1147K probably benign Het
Rfx7 C T 9: 72,524,093 (GRCm39) R428C probably damaging Het
Robo1 A G 16: 72,757,092 (GRCm39) Q351R probably null Het
Samd4 T C 14: 47,311,585 (GRCm39) F81S probably damaging Het
Shprh T A 10: 11,059,541 (GRCm39) Y1097* probably null Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc24a4 T A 12: 102,097,876 (GRCm39) D79E probably benign Het
Slc7a13 A T 4: 19,839,254 (GRCm39) I286F probably benign Het
Smarca1 G A X: 46,938,840 (GRCm39) Q723* probably null Het
Spata31d1b T C 13: 59,865,882 (GRCm39) L1010P probably damaging Het
Sult2a1 T C 7: 13,569,900 (GRCm39) S111G possibly damaging Het
Tecpr2 C T 12: 110,914,346 (GRCm39) T1219M probably damaging Het
Tesk1 T C 4: 43,446,998 (GRCm39) M462T probably benign Het
Thoc2l T A 5: 104,666,196 (GRCm39) S239R probably benign Het
Tmem171 C A 13: 98,822,924 (GRCm39) G292* probably null Het
Tmtc2 G T 10: 105,025,969 (GRCm39) T833N probably benign Het
Tnc G T 4: 63,918,299 (GRCm39) T1204K probably benign Het
Tnfaip3 T C 10: 18,883,937 (GRCm39) K148E probably benign Het
Tnrc18 G A 5: 142,800,895 (GRCm39) S21F probably damaging Het
Tns4 T C 11: 98,966,401 (GRCm39) T425A probably damaging Het
Tox T A 4: 6,688,948 (GRCm39) Y472F probably damaging Het
Trak2 A T 1: 58,958,014 (GRCm39) probably null Het
Trim33 T A 3: 103,244,760 (GRCm39) Y716N probably damaging Het
Trrap T G 5: 144,752,863 (GRCm39) I1813R probably damaging Het
Ttc29 A G 8: 78,978,361 (GRCm39) E137G probably benign Het
Ube2j2 A G 4: 156,033,483 (GRCm39) K19R probably benign Het
Ubxn2b T C 4: 6,208,889 (GRCm39) I206T possibly damaging Het
Usp40 A G 1: 87,909,778 (GRCm39) F559L probably benign Het
Utp4 T A 8: 107,638,982 (GRCm39) probably null Het
Vac14 A G 8: 111,409,166 (GRCm39) N524S probably benign Het
Vps13c T C 9: 67,801,334 (GRCm39) S605P probably damaging Het
Vwa5b2 G T 16: 20,423,582 (GRCm39) S1165I possibly damaging Het
Zdhhc19 C T 16: 32,317,231 (GRCm39) R28* probably null Het
Zfp106 T C 2: 120,357,329 (GRCm39) I1189V probably benign Het
Zfp189 C T 4: 49,529,511 (GRCm39) Q205* 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
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
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
Predicted Primers PCR Primer
(F):5'- TGACTTGATGCTTCAGTCCTG -3'
(R):5'- CTGCAGCTCACTCAGAATAACTG -3'

Sequencing Primer
(F):5'- CAGTCCTGTGAGGTGGGCAAG -3'
(R):5'- GCTCACTCAGAATAACTGCAGTTG -3'
Posted On 2014-06-30