Incidental Mutation 'IGL00987:Eya2'
ID27045
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eya2
Ensembl Gene ENSMUSG00000017897
Gene NameEYA transcriptional coactivator and phosphatase 2
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.843) question?
Stock #IGL00987
Quality Score
Status
Chromosome2
Chromosomal Location165595032-165771727 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 165754481 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 304 (E304G)
Ref Sequence ENSEMBL: ENSMUSP00000085455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063433] [ENSMUST00000088132]
Predicted Effect probably damaging
Transcript: ENSMUST00000063433
AA Change: E304G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000066244
Gene: ENSMUSG00000017897
AA Change: E304G

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
low complexity region 184 195 N/A INTRINSIC
PDB:4EGC|B 247 532 N/A PDB
SCOP:d1lvha_ 367 511 3e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000088132
AA Change: E304G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000085455
Gene: ENSMUSG00000017897
AA Change: E304G

DomainStartEndE-ValueType
low complexity region 73 88 N/A INTRINSIC
low complexity region 184 195 N/A INTRINSIC
Pfam:Hydrolase 262 508 1.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150638
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a member of the eyes absent protein family. The encoded protein is a tyrosine phosphatase which acts as a transcriptional activator during development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot9 T C X: 155,295,181 I241T probably benign Het
Atp5g3 T A 2: 73,909,926 R19* probably null Het
Celf4 T C 18: 25,486,950 D420G probably damaging Het
Cideb C A 14: 55,754,560 R179L possibly damaging Het
Cmtr1 G A 17: 29,697,169 R591H probably benign Het
Dync1li2 A T 8: 104,442,498 S34T possibly damaging Het
Eri2 A G 7: 119,791,166 Y80H probably damaging Het
Fam135a A C 1: 24,055,898 L130V probably damaging Het
Fancb A T X: 164,991,598 K410N probably damaging Het
Gabpb2 A C 3: 95,200,191 V191G probably damaging Het
Gfm1 A G 3: 67,438,560 H197R possibly damaging Het
Gm11595 A G 11: 99,772,539 V105A unknown Het
Hectd3 T A 4: 116,999,643 D462E probably damaging Het
Herc1 G T 9: 66,408,052 V1139L probably benign Het
Itgal T C 7: 127,302,011 F190L probably damaging Het
Krt87 G A 15: 101,438,446 H109Y probably benign Het
Lmf2 T C 15: 89,354,568 Y115C probably benign Het
Papolg T A 11: 23,876,377 Y259F possibly damaging Het
Parn T C 16: 13,667,603 I10V probably benign Het
Pdcd11 T A 19: 47,114,550 probably benign Het
Phldb2 T A 16: 45,763,102 Q1003L possibly damaging Het
Pigg T A 5: 108,342,078 F850I probably damaging Het
Pkp4 T C 2: 59,308,357 L317P probably damaging Het
Polr2a T C 11: 69,743,794 probably benign Het
Prdm16 G A 4: 154,341,969 T453M possibly damaging Het
Rnf144b A T 13: 47,207,493 E36D possibly damaging Het
Ryr2 G A 13: 11,735,502 T1961I probably damaging Het
Sash1 T A 10: 8,751,413 K305I probably damaging Het
Tbc1d7 A T 13: 43,159,321 I32N probably damaging Het
Thop1 T C 10: 81,081,695 F623L probably damaging Het
Thsd7b G A 1: 129,613,279 G297R probably damaging Het
Tln1 C A 4: 43,551,297 probably benign Het
Vmn1r183 A G 7: 24,055,224 N151D probably damaging Het
Other mutations in Eya2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02368:Eya2 APN 2 165763718 missense probably damaging 1.00
IGL02465:Eya2 APN 2 165715952 missense possibly damaging 0.89
IGL02523:Eya2 APN 2 165754436 splice site probably benign
Needle UTSW 2 165763816 missense probably damaging 1.00
R0048:Eya2 UTSW 2 165716011 missense probably damaging 1.00
R0167:Eya2 UTSW 2 165716112 missense possibly damaging 0.89
R0479:Eya2 UTSW 2 165715956 nonsense probably null
R0600:Eya2 UTSW 2 165769237 missense probably damaging 1.00
R0909:Eya2 UTSW 2 165754493 missense probably benign 0.28
R1251:Eya2 UTSW 2 165754484 missense probably damaging 1.00
R1332:Eya2 UTSW 2 165687608 splice site probably benign
R1725:Eya2 UTSW 2 165724685 missense probably benign
R1729:Eya2 UTSW 2 165687663 missense probably damaging 1.00
R1730:Eya2 UTSW 2 165687663 missense probably damaging 1.00
R1739:Eya2 UTSW 2 165687663 missense probably damaging 1.00
R1765:Eya2 UTSW 2 165724803 missense probably damaging 0.99
R1879:Eya2 UTSW 2 165664806 missense probably benign
R1969:Eya2 UTSW 2 165716119 missense probably benign 0.00
R2430:Eya2 UTSW 2 165716130 critical splice donor site probably null
R4285:Eya2 UTSW 2 165724780 missense probably benign 0.01
R5137:Eya2 UTSW 2 165731628 missense probably damaging 1.00
R5574:Eya2 UTSW 2 165763816 missense probably damaging 1.00
R5739:Eya2 UTSW 2 165761937 missense probably damaging 1.00
R5943:Eya2 UTSW 2 165724689 missense probably damaging 0.99
R6259:Eya2 UTSW 2 165716099 missense probably benign 0.00
R6477:Eya2 UTSW 2 165763761 missense probably benign
R6736:Eya2 UTSW 2 165716037 missense possibly damaging 0.80
R7347:Eya2 UTSW 2 165687666 missense probably benign 0.00
R7524:Eya2 UTSW 2 165769326 critical splice donor site probably null
R7563:Eya2 UTSW 2 165716130 critical splice donor site probably null
R7612:Eya2 UTSW 2 165687737 critical splice donor site probably null
Z1177:Eya2 UTSW 2 165685593 missense probably damaging 1.00
Posted On2013-04-17