Incidental Mutation 'IGL01104:Eya3'
ID50900
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eya3
Ensembl Gene ENSMUSG00000028886
Gene NameEYA transcriptional coactivator and phosphatase 3
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.687) question?
Stock #IGL01104
Quality Score
Status
Chromosome4
Chromosomal Location132638987-132724765 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132711929 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 455 (F455L)
Ref Sequence ENSEMBL: ENSMUSP00000080425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020197] [ENSMUST00000079157] [ENSMUST00000081726] [ENSMUST00000180250]
Predicted Effect probably damaging
Transcript: ENSMUST00000020197
AA Change: F345L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020197
Gene: ENSMUSG00000028886
AA Change: F345L

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: F439L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000078157
Gene: ENSMUSG00000028886
AA Change: F439L

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: F455L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080425
Gene: ENSMUSG00000028886
AA Change: F455L

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 noncoding transcript
Transcript: ENSMUST00000153809
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157029
Predicted Effect probably damaging
Transcript: ENSMUST00000180250
AA Change: F345L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136812
Gene: ENSMUSG00000028886
AA Change: F345L

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
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agap1 T A 1: 89,726,075 probably benign Het
AU015836 A T X: 93,971,887 D15V probably damaging Het
Capns2 G T 8: 92,901,755 D91Y probably damaging Het
Chd6 C T 2: 160,961,927 R2071Q probably damaging Het
Col4a4 G T 1: 82,466,545 P1334T unknown Het
Dusp12 T G 1: 170,874,473 H319P probably damaging Het
Emilin3 A T 2: 160,909,783 V112E probably damaging Het
F10 G A 8: 13,055,686 G417D probably damaging Het
Fat3 A C 9: 16,375,728 V833G possibly damaging Het
Fat3 A T 9: 15,998,460 L2082H probably damaging Het
Golga5 T A 12: 102,493,814 M667K probably damaging Het
Gpr50 T A X: 71,667,227 L305H probably damaging Het
Grhl1 A G 12: 24,584,454 K217R probably damaging Het
Itgb2 A G 10: 77,547,194 probably null Het
Jag1 T A 2: 137,084,378 I1035L probably benign Het
Kdm2a A G 19: 4,356,738 probably benign Het
Lima1 A C 15: 99,843,700 S32A probably damaging Het
Lmod1 C T 1: 135,364,784 T459I probably damaging Het
Mtch1 T C 17: 29,336,222 D284G probably damaging Het
Mtus2 C T 5: 148,077,009 probably null Het
Olfr371 A G 8: 85,231,184 T230A probably benign Het
Ppl T C 16: 5,094,491 Q742R probably benign Het
Reln T C 5: 21,986,967 R1492G probably damaging Het
Rsad1 T C 11: 94,543,640 T323A possibly damaging Het
Slc22a8 A G 19: 8,607,965 T293A possibly damaging Het
Smc4 T C 3: 69,027,584 I677T possibly damaging Het
Ufd1 T C 16: 18,814,837 F4S probably damaging Het
Usp9x T C X: 13,160,903 V16A probably damaging Het
Vmn2r31 A T 7: 7,396,566 C131S probably damaging Het
Vmn2r65 A G 7: 84,940,788 I640T possibly damaging Het
Vwf T C 6: 125,683,556 C2676R probably damaging Het
Other mutations in Eya3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00479:Eya3 APN 4 132704398 missense probably damaging 1.00
IGL01109:Eya3 APN 4 132693000 nonsense probably null
IGL01145:Eya3 APN 4 132709995 missense probably damaging 1.00
IGL02364:Eya3 APN 4 132710055 missense probably damaging 1.00
IGL03008:Eya3 APN 4 132706983 missense probably damaging 1.00
IGL03144:Eya3 APN 4 132693142 missense probably benign 0.07
IGL03176:Eya3 APN 4 132711922 missense possibly damaging 0.90
R0279:Eya3 UTSW 4 132719247 missense probably damaging 1.00
R0621:Eya3 UTSW 4 132694802 missense probably benign 0.00
R0893:Eya3 UTSW 4 132689786 missense probably benign 0.01
R1416:Eya3 UTSW 4 132707129 splice site probably benign
R1834:Eya3 UTSW 4 132707118 missense probably damaging 0.99
R1903:Eya3 UTSW 4 132721352 unclassified probably null
R4696:Eya3 UTSW 4 132670232 nonsense probably null
R4739:Eya3 UTSW 4 132721387 utr 3 prime probably benign
R4758:Eya3 UTSW 4 132694885 critical splice donor site probably null
R5061:Eya3 UTSW 4 132704378 missense probably damaging 1.00
R5411:Eya3 UTSW 4 132689779 missense probably damaging 0.99
R5479:Eya3 UTSW 4 132672933 missense possibly damaging 0.91
R6117:Eya3 UTSW 4 132711862 missense probably damaging 1.00
R6343:Eya3 UTSW 4 132672910 missense probably damaging 0.96
R6443:Eya3 UTSW 4 132711927 missense probably damaging 1.00
R6460:Eya3 UTSW 4 132680863 missense probably damaging 0.97
R7116:Eya3 UTSW 4 132694799 missense probably benign 0.00
R7418:Eya3 UTSW 4 132680848 missense possibly damaging 0.92
R7594:Eya3 UTSW 4 132694825 missense probably benign
R7624:Eya3 UTSW 4 132672951 missense probably benign 0.41
Posted On2013-06-21