eya4

Ensembl ID:
ENSDARG00000012397
ZFIN ID:
ZDB-GENE-050327-93
Description:
eyes absent 4 [Source:RefSeq peptide;Acc:NP_001014387]
Human Orthologue:
EYA4
Human Description:
eyes absent homolog 4 (Drosophila) [Source:HGNC Symbol;Acc:3522]
Mouse Orthologue:
Eya4
Mouse Description:
eyes absent 4 homolog (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1337104]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa39420 Nonsense Mutation detected in F1 DNA During 2016
sa44021 Essential Splice Site Mutation detected in F1 DNA During 2016
sa29968 Missense, Nonsense Mutation detected in F1 DNA During 2016
sa13475 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa39420
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045433 Nonsense 46 248 3 20
ENSDART00000126920 Nonsense 54 634 3 19
ENSDART00000131352 Nonsense 54 613 3 18
ENSDART00000133002 Nonsense 54 636 3 19
ENSDART00000138625 Nonsense 54 636 3 19
ENSDART00000143425 Nonsense 54 613 4 19
Genomic Location (Zv9):
Chromosome 23 (position 31716468)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 31551358
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGTCCAGCACTCTGTTAACAGTGGCAGTGACGGCACTTCCAAACTGGAC[A/T]AAAACATCCTCAGCAACAACATCACGACCAATGGAACCGGAGGTAAGACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44021
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045433 Essential Splice Site 156 248 6 20
ENSDART00000126920 Essential Splice Site 187 634 7 19
ENSDART00000131352 Essential Splice Site 164 613 6 18
ENSDART00000133002 Essential Splice Site 187 636 7 19
ENSDART00000138625 Essential Splice Site 187 636 7 19
ENSDART00000143425 Essential Splice Site 164 613 7 19
Genomic Location (Zv9):
Chromosome 23 (position 31709763)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 31544653
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TACACGCCCTATTCGCAAACGACTCCACCCTACGGCCTCTCCACCTATGG[T/A]AGGTTTTTACCATTGTTTTTATACTGTATAAAAAAATTTAGAGACCACTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29968
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > A
Consequence:
Missense, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045433 Missense 245 248 10 20
ENSDART00000126920 Nonsense 283 634 10 19
ENSDART00000131352 Nonsense 262 613 9 18
ENSDART00000133002 Nonsense 285 636 10 19
ENSDART00000138625 Nonsense 285 636 10 19
ENSDART00000143425 Nonsense 262 613 10 19
Genomic Location (Zv9):
Chromosome 23 (position 31702348)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 31537238
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACAACTTTTGGGCAGAATCAGTATGCTCAGTATTACTCCACCTCCTCCTA[C/A]GGCTCCTATATGACATCTAACAGCTCATTGGATGGCACAGGTTCAGTCTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13475
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000045433 Essential Splice Site None 248 10 20
ENSDART00000126920 Essential Splice Site 318 634 10 19
ENSDART00000131352 Essential Splice Site 297 613 9 18
ENSDART00000133002 Essential Splice Site 320 636 10 19
ENSDART00000138625 Essential Splice Site 320 636 10 19
ENSDART00000143425 Essential Splice Site 297 613 10 19
Genomic Location (Zv9):
Chromosome 23 (position 31702241)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 31537131
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCAGCTGCAGGACCCCATCATGACAGGGCAAGCAGCTGACCTGAATCCAG[G/A]TAAACGGCGAACAGTTTCAGWGTTTCTCTTTWCAWTTAARCTTAAAAACT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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