Incidental Mutation 'IGL03027:Eya1'
ID408230
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eya1
Ensembl Gene ENSMUSG00000025932
Gene NameEYA transcriptional coactivator and phosphatase 1
Synonymsbor
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.892) question?
Stock #IGL03027
Quality Score
Status
Chromosome1
Chromosomal Location14168954-14310235 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 14170966 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Asparagine at position 576 (H576N)
Ref Sequence ENSEMBL: ENSMUSP00000141112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027066] [ENSMUST00000080664] [ENSMUST00000168081] [ENSMUST00000190337]
Predicted Effect probably damaging
Transcript: ENSMUST00000027066
AA Change: H576N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: H576N

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 56 75 N/A INTRINSIC
low complexity region 240 252 N/A INTRINSIC
low complexity region 295 319 N/A INTRINSIC
PDB:3HB1|D 320 591 1e-172 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000080664
AA Change: H543N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: H543N

DomainStartEndE-ValueType
low complexity region 22 41 N/A INTRINSIC
low complexity region 201 213 N/A INTRINSIC
low complexity region 256 280 N/A INTRINSIC
PDB:3HB1|D 281 552 1e-173 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000168081
AA Change: H572N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: H572N

DomainStartEndE-ValueType
low complexity region 23 42 N/A INTRINSIC
low complexity region 207 219 N/A INTRINSIC
low complexity region 262 286 N/A INTRINSIC
PDB:3HB1|D 287 558 1e-172 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000190337
AA Change: H576N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: H576N

DomainStartEndE-ValueType
low complexity region 8 23 N/A INTRINSIC
low complexity region 56 75 N/A INTRINSIC
low complexity region 240 252 N/A INTRINSIC
low complexity region 295 319 N/A INTRINSIC
PDB:3HB1|D 320 591 1e-172 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 play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mutations in this locus affect inner ear morphology and hearing, and result in dysmorphic or absent kidneys. Hypomorphs are deaf and circle. Null homozygotes additionally show agenesis of thymus and parathyroid and thyroid hypoplasia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf1 A T 17: 43,296,714 Y108F probably damaging Het
Afap1 T C 5: 35,961,750 I243T probably benign Het
Ano5 A G 7: 51,566,277 D320G probably damaging Het
Arhgef1 T A 7: 24,923,732 I423K probably damaging Het
Casp9 A G 4: 141,812,273 E410G probably benign Het
Ccdc39 A C 3: 33,830,118 H358Q probably benign Het
Ces5a A T 8: 93,523,114 probably null Het
Clip1 A T 5: 123,621,856 M935K probably benign Het
Col12a1 A G 9: 79,641,551 Y2171H probably benign Het
Cyp2f2 A T 7: 27,132,571 N417I possibly damaging Het
Dock3 G A 9: 106,993,478 P579L probably damaging Het
Dock7 T C 4: 99,070,213 T334A possibly damaging Het
Dock7 T C 4: 98,977,927 M1209V probably benign Het
Dst A T 1: 34,186,025 I1171F possibly damaging Het
Fam117a A G 11: 95,377,573 T267A probably benign Het
Fam43a C T 16: 30,601,104 R169C probably damaging Het
Gabra6 T C 11: 42,315,153 H291R probably damaging Het
Gm7145 T C 1: 117,967,687 S27P probably benign Het
Gpt C T 15: 76,698,089 probably benign Het
Grip2 A G 6: 91,778,871 I586T probably benign Het
Hif1a C T 12: 73,940,477 P448L probably benign Het
Hmcn1 C T 1: 150,808,539 V427I probably benign Het
Ipo8 C A 6: 148,777,239 V954L probably benign Het
Kdm5a G T 6: 120,374,990 probably null Het
Klhl36 T A 8: 119,876,490 S495T probably benign Het
Lpar5 T A 6: 125,082,240 L308Q probably damaging Het
Lrp2 T G 2: 69,537,553 D205A probably benign Het
Lrriq1 A G 10: 103,227,196 I83T probably benign Het
Mapk8ip2 A T 15: 89,458,107 D507V probably damaging Het
Mical1 T C 10: 41,479,505 probably benign Het
Myef2 T A 2: 125,089,034 H539L possibly damaging Het
Myh7 T C 14: 54,983,550 E972G probably damaging Het
Naip5 A G 13: 100,223,016 Y571H probably benign Het
Nfasc T A 1: 132,610,469 N478I probably damaging Het
Olfr786 A G 10: 129,436,911 Y33C probably damaging Het
Pde2a A T 7: 101,481,420 Q89L probably benign Het
Ppard C A 17: 28,299,791 T422K possibly damaging Het
Ppp1r13b G T 12: 111,830,396 Y904* probably null Het
Ptx4 T A 17: 25,125,048 I424K possibly damaging Het
Rab19 A G 6: 39,383,993 D25G probably damaging Het
Rbl2 T A 8: 91,078,906 I197N possibly damaging Het
Rttn A G 18: 88,979,690 D273G probably damaging Het
Sec16a G A 2: 26,423,589 R1920C probably benign Het
Sec23b A T 2: 144,587,545 N731I possibly damaging Het
Serpinb9d G A 13: 33,202,715 W255* probably null Het
Sim2 G A 16: 94,109,492 probably benign Het
Tbl3 T C 17: 24,701,193 probably null Het
Tcrg-C1 G T 13: 19,214,393 G97* probably null Het
Tmem176b C T 6: 48,835,639 A131T probably damaging Het
Tmem181a T A 17: 6,298,219 V332D probably damaging Het
Tuba3b T A 6: 145,619,391 L195Q probably damaging Het
Ubc A T 5: 125,387,501 V254D probably damaging Het
Ube4b G T 4: 149,381,277 P239T probably damaging Het
Vars G T 17: 35,013,687 M862I probably damaging Het
Vmn2r66 T C 7: 84,995,569 probably benign Het
Wdr59 G A 8: 111,462,192 A720V probably damaging Het
Zfhx3 G A 8: 108,793,188 R314Q probably damaging Het
Other mutations in Eya1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Eya1 APN 1 14270701 splice site probably benign
IGL01110:Eya1 APN 1 14283130 missense probably damaging 1.00
IGL02266:Eya1 APN 1 14184501 missense possibly damaging 0.63
IGL03081:Eya1 APN 1 14183191 missense possibly damaging 0.76
IGL03291:Eya1 APN 1 14184348 critical splice donor site probably null
IGL03353:Eya1 APN 1 14179527 missense probably damaging 1.00
R0042:Eya1 UTSW 1 14184489 missense probably damaging 0.98
R0042:Eya1 UTSW 1 14184489 missense probably damaging 0.98
R1428:Eya1 UTSW 1 14304414 splice site probably benign
R1521:Eya1 UTSW 1 14274550 missense probably damaging 0.99
R1571:Eya1 UTSW 1 14208917 missense probably damaging 1.00
R1768:Eya1 UTSW 1 14253075 missense possibly damaging 0.95
R1785:Eya1 UTSW 1 14170974 missense probably benign 0.16
R1840:Eya1 UTSW 1 14229504 nonsense probably null
R2114:Eya1 UTSW 1 14270774 missense probably damaging 1.00
R2131:Eya1 UTSW 1 14170974 missense probably benign 0.16
R2212:Eya1 UTSW 1 14274209 critical splice acceptor site probably null
R2416:Eya1 UTSW 1 14270703 critical splice donor site probably null
R2424:Eya1 UTSW 1 14270848 splice site probably benign
R3085:Eya1 UTSW 1 14274090 missense probably benign 0.01
R3158:Eya1 UTSW 1 14304467 start gained probably benign
R3412:Eya1 UTSW 1 14274209 critical splice acceptor site probably null
R3413:Eya1 UTSW 1 14274209 critical splice acceptor site probably null
R3693:Eya1 UTSW 1 14229501 missense probably damaging 1.00
R3694:Eya1 UTSW 1 14229501 missense probably damaging 1.00
R3899:Eya1 UTSW 1 14270747 missense probably benign 0.04
R4454:Eya1 UTSW 1 14183196 missense probably damaging 0.98
R4455:Eya1 UTSW 1 14183196 missense probably damaging 0.98
R4456:Eya1 UTSW 1 14183196 missense probably damaging 0.98
R4458:Eya1 UTSW 1 14183196 missense probably damaging 0.98
R4761:Eya1 UTSW 1 14302821 missense probably damaging 1.00
R5011:Eya1 UTSW 1 14184358 missense probably damaging 1.00
R5013:Eya1 UTSW 1 14184358 missense probably damaging 1.00
R5613:Eya1 UTSW 1 14302929 intron probably benign
R5687:Eya1 UTSW 1 14183252 missense probably damaging 0.99
R6052:Eya1 UTSW 1 14283150 missense probably damaging 1.00
R6181:Eya1 UTSW 1 14302872 missense probably damaging 0.99
R6378:Eya1 UTSW 1 14302803 missense possibly damaging 0.93
R6805:Eya1 UTSW 1 14183277 missense probably benign 0.00
R6863:Eya1 UTSW 1 14270975 intron probably null
R7032:Eya1 UTSW 1 14283200 critical splice acceptor site probably null
R7044:Eya1 UTSW 1 14231410 splice site probably null
R7078:Eya1 UTSW 1 14231412 critical splice donor site probably null
R7179:Eya1 UTSW 1 14302852 missense probably damaging 1.00
R7384:Eya1 UTSW 1 14229512 missense probably damaging 1.00
R7462:Eya1 UTSW 1 14231414 missense probably null 0.99
Z1176:Eya1 UTSW 1 14252430 missense probably benign
Z1176:Eya1 UTSW 1 14302868 missense probably damaging 1.00
Z1177:Eya1 UTSW 1 14184429 missense probably damaging 0.98
Z1177:Eya1 UTSW 1 14253090 missense possibly damaging 0.68
Posted On2016-08-02