Busch Lab

ZMP

eif2ak3

Ensembl ID:
ENSDARG00000062139
ZFIN ID:
ZDB-GENE-050414-2
Description:
eukaryotic translation initiation factor 2-alpha kinase 3 [Source:RefSeq peptide;Acc:NP_001070617]
Human Orthologue:
EIF2AK3
Human Description:
eukaryotic translation initiation factor 2-alpha kinase 3 [Source:HGNC Symbol;Acc:3255]
Mouse Orthologue:
Eif2ak3
Mouse Description:
eukaryotic translation initiation factor 2 alpha kinase 3 Gene [Source:MGI Symbol;Acc:MGI:1341830]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa42159 Nonsense Mutation detected in F1 DNA Not yet available
sa4496 Essential Splice Site F2 line generated Not yet available
sa451 Essential Splice Site Confirmed mutation in F2 line Not yet available

Mutation Details

Allele Name:
sa42159
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089501 Nonsense 249 323 5 7
ENSDART00000142997 Nonsense 302 1099 5 17

The following transcripts of ENSDARG00000062139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 13 (position 13843818)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 13851813
GRCz11 13 13982805
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGAGGTCAGACGTGAAGCACAGCGTGTTATCCAGGAGGAGACGGACGCA[C/T]AAACCAAAAATCATGCTAAGATGCACCCAAACTCAGCGCATACTCAGGTA
Long Flanking Sequence:
TTCTATGCAGTTGAAGTATATTTGTTCAGCGGTGGGCTGCAGTCGGTGGGGGGACGAGGAAGGAGAGCCAGAGGACGTATTGTTACTCCAGAGAACACAGAAAACTGTCAGAGCTGTGAGGCCTCGCAACGGGTTTGAGAAGTAAGAAACACCCGCAGGCTTCACTCGCGCTCTGTTGAGTGCTTCGTATGACCTTGCTTTTGATCGTACAAACGAAGCAGAGGTAGATTAGATGCATGAAACGATGGCTTGTGTCAACAATGCACAGCTTGGCAGCGGCTTGTAGAAAAACATTTAAAGATTAGTAGCAGCCCCCGTTAAATGTCAATTGTATTCTGTATTTTGCTAGATGGAACTTCAGCGTGGGAAACTTTGAGCTCAAATTTGTTCCGGAGATTCAGTCCAAACTCAACTTTTTGGAGGGGGAGGCACCAAGTGGAGAAACGTGGCGAGAGGTCAGACGTGAAGCACAGCGTGTTATCCAGGAGGAGACGGACGCA[C/T]AAACCAAAAATCATGCTAAGATGCACCCAAACTCAGCGCATACTCAGGTAGAGGGCTTAGACCTGGTCATTAAGGTTTCTGTGCCGGACTGGAAAGTCATGGCCTTCAGCACCAAACCAGAAGGACAGCTGATCTGGGAGCATCAGGTAAATAGATCTCAACCCATTTTGGTTAAAACATAGGTTTAGCAATTACACATTTCAACCACTGTGTTTTCTCTCTGAAGTTTTGCACACCCATTGCCTCGGCATGGTTGGTTGGAGGGGGGAAGGTGACACCCATTAGCCTGTTTGATGACACCTCGTATAACTCCCAAACTGAGACTGAGACTCAGGAGGATGATGACATCATGGAGGAGGCCCGCGGGGCAACAGAGTCCAGCGTTTACCTGGGTAACATGCATTTGACATTTGTTTTACACACCATACTGTTGAAGACAGAATTATCAGCCCTCTTGTTTTTCTGTTTAACGGAGAGCTTTTTTTAACACATTTTCTAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4496
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089501 Essential Splice Site 323 323 7 7
ENSDART00000142997 None None 1099 None 17
ENSDART00000089501 Essential Splice Site 323 323 7 7
ENSDART00000142997 None None 1099 None 17

The following transcripts of ENSDARG00000062139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 13 (position 13865154)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 13873149
GRCz11 13 14004141
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAAAATCACTCTGTAACCCACGTCAGGGACCACTTTGTGAGTCTTCACCT[C/T]GTAAGCTGTATCTGTGAAGYGTCCCGGTGAAGATCCTTTTTGTTCAAGAT
Long Flanking Sequence:
GTGACCAAAAAAGAATAATACTAATAATAATCAACCTGAATGAGAAGTGCTTTGACTAATCACACAACGAGAATAAGGATTCTGGAGGAATCGCCTCGACCAAATATTCAGCACACACTCTTAATTGTAACATATCAGGTAATTACTGATTGTATGGCTTTGTTTTCTTACCAGTTTTGATTAGAGGGACTGAATTTCCTTTTGTATATGATGGAATTTTCTGTATAGTAACTGCTTTTTATGACGTTTTTCAACTTCTTTGGATGTATTTTTTTTCTTAAGAGTTGTTTGAGAGAGTGGATCTTTCCAGTTTGACGGACTGGATCTGTGGTGGTGTTAAAGAGCAGTTTGTGTGTGTCTGTCTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTTTGCTGCAGAACGGACATGAGATTATGACCTACAATCCTTAAAATCACTCTGTAACCCACGTCAGGGACCACTTTGTGAGTCTTCACCT[C/T]GTAAGCTGTATCTGTGAAGTGTCCCGGTGAAGATCCTTTTTGTTCAAGATCACTGTGGCAAATCCTTCCATCAGGTTTTTCCCTGCTGTCTTTTTGCTTTTAAATCCATTGTATTCATGCTTTTGTTATGGTAGCGTTTTGGTTTTGATGTTCAGATTCTTCAGTGTCCTTTGGAGGGTTTGTTTTTCTGTTGAAATCCCAGGTTCTTGTTCTCTAGCCCAGCCAGTCTCCTGCCGTCTATGTAAATATGTTTATTTGTTTTTATTTATGTTGAGTACAATAATCAGTCCGTTGGATTGGTTGAGGTATAAATAAGGTATATTAATGCGCTTCATCCATTGGAGTGCATTGAAATATTGTGACTTCTTACAAGTCAGAATTTAATAAACGTTCTATGATGTTTGTAAAAGTGTTTGTGTTTTTCTGTATGAAAGAAAACATCTCTGAAGCTTATTTAAAAAATACATATTTTCAAATTTATTATTTATAAAATTTTAATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa451
Status:
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089501 Essential Splice Site 323 323 7 7
ENSDART00000142997 None None 1099 None 17
ENSDART00000089501 Essential Splice Site 323 323 7 7
ENSDART00000142997 None None 1099 None 17

The following transcripts of ENSDARG00000062139 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 13 (position 13865154)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 13873149
GRCz11 13 14004141
KASP Assay ID:
554-0378.1 (used for ordering genotyping assays)
KASP Sequence:
TAAAATCACTCTGTAACCCACGTCAGGGACCACTTTGTGAGTCTTCACCT[C/T]GTAAGCTGTATCTGTGAAGTGTCCCGGTGAAGATCCTTTTTGTTCAAGAT
Long Flanking Sequence:
GTGACCAAAAAAGAATAATACTAATAATAATCAACCTGAATGAGAAGTGCTTTGACTAATCACACAACGAGAATAAGGATTCTGGAGGAATCGCCTCGACCAAATATTCAGCACACACTCTTAATTGTAACATATCAGGTAATTACTGATTGTATGGCTTTGTTTTCTTACCAGTTTTGATTAGAGGGACTGAATTTCCTTTTGTATATGATGGAATTTTCTGTATAGTAACTGCTTTTTATGACGTTTTTCAACTTCTTTGGATGTATTTTTTTTCTTAAGAGTTGTTTGAGAGAGTGGATCTTTCCAGTTTGACGGACTGGATCTGTGGTGGTGTTAAAGAGCAGTTTGTGTGTGTCTGTCTGTCTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGATTTTTGCTGCAGAACGGACATGAGATTATGACCTACAATCCTTAAAATCACTCTGTAACCCACGTCAGGGACCACTTTGTGAGTCTTCACCT[C/T]GTAAGCTGTATCTGTGAAGTGTCCCGGTGAAGATCCTTTTTGTTCAAGATCACTGTGGCAAATCCTTCCATCAGGTTTTTCCCTGCTGTCTTTTTGCTTTTAAATCCATTGTATTCATGCTTTTGTTATGGTAGCGTTTTGGTTTTGATGTTCAGATTCTTCAGTGTCCTTTGGAGGGTTTGTTTTTCTGTTGAAATCCCAGGTTCTTGTTCTCTAGCCCAGCCAGTCTCCTGCCGTCTATGTAAATATGTTTATTTGTTTTTATTTATGTTGAGTACAATAATCAGTCCGTTGGATTGGTTGAGGTATAAATAAGGTATATTAATGCGCTTCATCCATTGGAGTGCATTGAAATATTGTGACTTCTTACAAGTCAGAATTTAATAAACGTTCTATGATGTTTGTAAAAGTGTTTGTGTTTTTCTGTATGAAAGAAAACATCTCTGAAGCTTATTTAAAAAATACATATTTTCAAATTTATTATTTATAAAATTTTAATA
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461