eif5

Ensembl ID:
ENSDARG00000003681
ZFIN ID:
ZDB-GENE-030131-975
Description:
eukaryotic translation initiation factor 5 [Source:RefSeq peptide;Acc:NP_955885]
Human Orthologue:
EIF5
Human Description:
eukaryotic translation initiation factor 5 [Source:HGNC Symbol;Acc:3299]
Mouse Orthologue:
Eif5
Mouse Description:
eukaryotic translation initiation factor 5 Gene [Source:MGI Symbol;Acc:MGI:95309]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa43408 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa43408
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 2017.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019476 Essential Splice Site 295 429 9 12
ENSDART00000137766   None 146 None 4

The following transcripts of ENSDARG00000003681 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 20 (position 18781043)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 18809300
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGAGAACATCCGCGACCAGATTAAGAAGTACAAGCGTCATTTCCTCAGGG[T/A]ACGACCTTGCGTCTGTTAGCATTTGTTTTGTTTTCAAATTGTAGATCACT
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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