Incidental Mutation 'IGL03081:Eya1'
ID 417861
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eya1
Ensembl Gene ENSMUSG00000025932
Gene Name EYA transcriptional coactivator and phosphatase 1
Synonyms bor
Accession Numbers
Essential gene? Probably essential (E-score: 0.847) question?
Stock # IGL03081
Quality Score
Status
Chromosome 1
Chromosomal Location 14239178-14380459 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 14253415 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 520 (F520L)
Ref Sequence ENSEMBL: ENSMUSP00000141112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027066] [ENSMUST00000080664] [ENSMUST00000168081] [ENSMUST00000190337]
AlphaFold P97767
Predicted Effect possibly damaging
Transcript: ENSMUST00000027066
AA Change: F520L

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000027066
Gene: ENSMUSG00000025932
AA Change: F520L

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 possibly damaging
Transcript: ENSMUST00000080664
AA Change: F487L

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000079493
Gene: ENSMUSG00000025932
AA Change: F487L

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 possibly damaging
Transcript: ENSMUST00000168081
AA Change: F516L

PolyPhen 2 Score 0.643 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000126383
Gene: ENSMUSG00000025932
AA Change: F516L

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 noncoding transcript
Transcript: ENSMUST00000179783
Predicted Effect possibly damaging
Transcript: ENSMUST00000190337
AA Change: F520L

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000141112
Gene: ENSMUSG00000025932
AA Change: F520L

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 C A 19: 43,770,841 (GRCm39) probably benign Het
Acan T G 7: 78,748,291 (GRCm39) S1021A probably benign Het
Adamts6 A G 13: 104,581,464 (GRCm39) probably benign Het
Apc2 A G 10: 80,148,086 (GRCm39) K1018E probably damaging Het
Arhgef28 A T 13: 98,165,881 (GRCm39) probably benign Het
Atp2b1 T C 10: 98,830,675 (GRCm39) probably benign Het
Cct6b A T 11: 82,654,995 (GRCm39) L20* probably null Het
Cd300ld2 G A 11: 114,903,368 (GRCm39) probably benign Het
Cdc23 T G 18: 34,769,757 (GRCm39) K454T probably damaging Het
Cdh20 A T 1: 104,868,982 (GRCm39) I158F probably damaging Het
Cdk14 C T 5: 4,999,527 (GRCm39) probably benign Het
Ces1d C A 8: 93,896,346 (GRCm39) probably null Het
Clec2i A T 6: 128,871,728 (GRCm39) Y113F probably damaging Het
Dmpk T A 7: 18,821,458 (GRCm39) S239T probably damaging Het
Dnah8 T C 17: 30,905,347 (GRCm39) probably benign Het
Exoc2 A G 13: 31,084,885 (GRCm39) Y359H probably benign Het
Fgfr1op2 A T 6: 146,498,817 (GRCm39) I217F probably damaging Het
Gm12258 A G 11: 58,749,085 (GRCm39) N87D probably benign Het
Gp6 A G 7: 4,374,647 (GRCm39) S225P probably benign Het
Hdac7 T C 15: 97,696,187 (GRCm39) Y619C probably damaging Het
Lars1 A G 18: 42,343,156 (GRCm39) I1087T probably benign Het
Lrrc37a G T 11: 103,347,421 (GRCm39) H3091Q unknown Het
Mcm3ap T C 10: 76,306,150 (GRCm39) S88P possibly damaging Het
Mrps23 G A 11: 88,101,043 (GRCm39) R117Q probably benign Het
Nbea T C 3: 55,987,339 (GRCm39) S384G probably damaging Het
Ndufs4 A T 13: 114,444,373 (GRCm39) I135N possibly damaging Het
Noto T C 6: 85,401,091 (GRCm39) F40S probably damaging Het
Nr5a1 A T 2: 38,600,544 (GRCm39) V41D possibly damaging Het
Or8b50 C T 9: 38,518,166 (GRCm39) A135V probably benign Het
Papola T A 12: 105,785,114 (GRCm39) H415Q probably damaging Het
Pcm1 C T 8: 41,728,097 (GRCm39) T557I probably damaging Het
Pde11a A T 2: 75,906,274 (GRCm39) probably benign Het
Pls1 A G 9: 95,655,696 (GRCm39) V352A probably damaging Het
Pygm T C 19: 6,438,851 (GRCm39) S226P possibly damaging Het
Rnf17 T A 14: 56,671,828 (GRCm39) S273R probably benign Het
Scamp2 T C 9: 57,494,410 (GRCm39) V261A possibly damaging Het
Slc7a12 T A 3: 14,546,315 (GRCm39) F153L probably benign Het
Smchd1 A T 17: 71,667,186 (GRCm39) D1735E probably damaging Het
Stk40 A G 4: 126,017,507 (GRCm39) probably null Het
Tas2r124 C T 6: 132,732,497 (GRCm39) L269F possibly damaging Het
Tmem260 A C 14: 48,733,750 (GRCm39) I216L probably benign Het
Ubr1 C A 2: 120,791,637 (GRCm39) A116S possibly damaging Het
Unc13a T C 8: 72,102,193 (GRCm39) K991R probably damaging Het
Vmn2r66 T C 7: 84,657,138 (GRCm39) Y89C probably benign Het
Vps13b A C 15: 35,875,966 (GRCm39) I2784L probably damaging Het
Zbtb26 T A 2: 37,326,612 (GRCm39) K141N possibly damaging Het
Zranb1 T A 7: 132,552,126 (GRCm39) M259K probably damaging Het
Other mutations in Eya1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00978:Eya1 APN 1 14,340,925 (GRCm39) splice site probably benign
IGL01110:Eya1 APN 1 14,353,354 (GRCm39) missense probably damaging 1.00
IGL02266:Eya1 APN 1 14,254,725 (GRCm39) missense possibly damaging 0.63
IGL03027:Eya1 APN 1 14,241,190 (GRCm39) missense probably damaging 1.00
IGL03291:Eya1 APN 1 14,254,572 (GRCm39) critical splice donor site probably null
IGL03353:Eya1 APN 1 14,249,751 (GRCm39) missense probably damaging 1.00
R0042:Eya1 UTSW 1 14,254,713 (GRCm39) missense probably damaging 0.98
R0042:Eya1 UTSW 1 14,254,713 (GRCm39) missense probably damaging 0.98
R1428:Eya1 UTSW 1 14,374,638 (GRCm39) splice site probably benign
R1521:Eya1 UTSW 1 14,344,774 (GRCm39) missense probably damaging 0.99
R1571:Eya1 UTSW 1 14,279,141 (GRCm39) missense probably damaging 1.00
R1768:Eya1 UTSW 1 14,323,299 (GRCm39) missense possibly damaging 0.95
R1785:Eya1 UTSW 1 14,241,198 (GRCm39) missense probably benign 0.16
R1840:Eya1 UTSW 1 14,299,728 (GRCm39) nonsense probably null
R2114:Eya1 UTSW 1 14,340,998 (GRCm39) missense probably damaging 1.00
R2131:Eya1 UTSW 1 14,241,198 (GRCm39) missense probably benign 0.16
R2212:Eya1 UTSW 1 14,344,433 (GRCm39) critical splice acceptor site probably null
R2416:Eya1 UTSW 1 14,340,927 (GRCm39) critical splice donor site probably null
R2424:Eya1 UTSW 1 14,341,072 (GRCm39) splice site probably benign
R3085:Eya1 UTSW 1 14,344,314 (GRCm39) missense probably benign 0.01
R3158:Eya1 UTSW 1 14,374,691 (GRCm39) start gained probably benign
R3412:Eya1 UTSW 1 14,344,433 (GRCm39) critical splice acceptor site probably null
R3413:Eya1 UTSW 1 14,344,433 (GRCm39) critical splice acceptor site probably null
R3693:Eya1 UTSW 1 14,299,725 (GRCm39) missense probably damaging 1.00
R3694:Eya1 UTSW 1 14,299,725 (GRCm39) missense probably damaging 1.00
R3899:Eya1 UTSW 1 14,340,971 (GRCm39) missense probably benign 0.04
R4454:Eya1 UTSW 1 14,253,420 (GRCm39) missense probably damaging 0.98
R4455:Eya1 UTSW 1 14,253,420 (GRCm39) missense probably damaging 0.98
R4456:Eya1 UTSW 1 14,253,420 (GRCm39) missense probably damaging 0.98
R4458:Eya1 UTSW 1 14,253,420 (GRCm39) missense probably damaging 0.98
R4761:Eya1 UTSW 1 14,373,045 (GRCm39) missense probably damaging 1.00
R5011:Eya1 UTSW 1 14,254,582 (GRCm39) missense probably damaging 1.00
R5013:Eya1 UTSW 1 14,254,582 (GRCm39) missense probably damaging 1.00
R5613:Eya1 UTSW 1 14,373,153 (GRCm39) intron probably benign
R5687:Eya1 UTSW 1 14,253,476 (GRCm39) missense probably damaging 0.99
R6052:Eya1 UTSW 1 14,353,374 (GRCm39) missense probably damaging 1.00
R6181:Eya1 UTSW 1 14,373,096 (GRCm39) missense probably damaging 0.99
R6378:Eya1 UTSW 1 14,373,027 (GRCm39) missense possibly damaging 0.93
R6805:Eya1 UTSW 1 14,253,501 (GRCm39) missense probably benign 0.00
R6863:Eya1 UTSW 1 14,341,199 (GRCm39) splice site probably null
R7032:Eya1 UTSW 1 14,353,424 (GRCm39) critical splice acceptor site probably null
R7044:Eya1 UTSW 1 14,301,634 (GRCm39) splice site probably null
R7078:Eya1 UTSW 1 14,301,636 (GRCm39) critical splice donor site probably null
R7179:Eya1 UTSW 1 14,373,076 (GRCm39) missense probably damaging 1.00
R7384:Eya1 UTSW 1 14,299,736 (GRCm39) missense probably damaging 1.00
R7462:Eya1 UTSW 1 14,301,638 (GRCm39) missense probably null 0.99
R8490:Eya1 UTSW 1 14,254,899 (GRCm39) missense possibly damaging 0.90
R8527:Eya1 UTSW 1 14,322,672 (GRCm39) missense probably damaging 1.00
R8724:Eya1 UTSW 1 14,279,206 (GRCm39) missense probably benign 0.01
R9462:Eya1 UTSW 1 14,299,775 (GRCm39) missense probably damaging 1.00
R9608:Eya1 UTSW 1 14,373,029 (GRCm39) missense probably benign 0.10
Z1176:Eya1 UTSW 1 14,373,092 (GRCm39) missense probably damaging 1.00
Z1176:Eya1 UTSW 1 14,322,654 (GRCm39) missense probably benign
Z1177:Eya1 UTSW 1 14,323,314 (GRCm39) missense possibly damaging 0.68
Z1177:Eya1 UTSW 1 14,254,653 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02