Busch Lab

ZMP

LOC570630

Ensembl ID:
ENSDARG00000061268
Human Orthologue:
EIF2C2
Human Description:
eukaryotic translation initiation factor 2C, 2 [Source:HGNC Symbol;Acc:3263]
Mouse Orthologue:
Eif2c2
Mouse Description:
eukaryotic translation initiation factor 2C, 2 Gene [Source:MGI Symbol;Acc:MGI:2446632]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa23583 Essential Splice Site Available for shipment Available now
sa23584 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa23583
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087187 Essential Splice Site 86 873 3 20
Genomic Location (Zv9):
Chromosome 19 (position 42456878)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 41899892
GRCz11 19 41484947
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTATGAAATAGACATCAAGCCTGAGAAATGCCCACGGAGAGTTAACCGG[T/A]AAAATCTTTTGACTCAACCTAAAATTTCCTACTAATTGTTTGGGTGCTCT
Long Flanking Sequence:
CATGTGATGCGATTTCCTAGGTCAGAATTCACCAAGCTTGAACTTTCCAATGCAGCAAACTGCAAACTTGTCGCATGAACTTTCGTTTCCGTTCTGACGCATTCACATGCGTATGAATGGAAATCTATGGGGAGAAAAGGGCAGTGTGACCGCAGCTTTAATAAAGGTACTAGAAACCTACTGAAAGGTGTGTTGAAGCAAGATGGAGCTAAACTCAGCAGGACACCGGCCCTCCAGGACTGAGTTTGGACACCCCTGATATAAATCATTGAATGCATTTGAAAAACCTGACTAATTTGTGCATGTGTCCTGCAGCTCCCGCGTCTCCTCCAGCACCACAAGAATATGTCTTCAAACCACCTCAGCGGCCAGACTTTGGCACAATGGGTAGGACAATCAAGCTTCAGGCCAACTTCTTTGAAATGGAAATTCCCAAGTTGGAGGTTTATCATTATGAAATAGACATCAAGCCTGAGAAATGCCCACGGAGAGTTAACCGG[T/A]AAAATCTTTTGACTCAACCTAAAATTTCCTACTAATTGTTTGGGTGCTCTGTACTTACTCGCTTGTTTTTTTTCTTTCTTTAGTGAAATAGTTGAGCACATGGTCCAGCACTTTAAAACGCAGATCTTTGGAGATCGAAAGCCTGTGTATGATGGGAGGAAGAATCTCTACACTGCCATGCCTTTACCCATTGGAAGAGACAAAGTATGCACCATTGAAGTCTATGTTAGCTTCATTACTCTAAATGCTACTTAAAATGCTGCACTGAAATCTTTACACCGTATAGATGATCATATATCACTGATGTGCCAAACTGCTCTGTTTAGGTGGAGCTGGAGGTCACGATTCCTGGGGAGGGAAAAGACAGGAGCTTTAAAGTCGCTATAAAGTGGATGTCCTGTGTCAGTCTGCAAGCTTTGCATGAAGCACTCTCTGGACGGCTACCAAACATCCCTTTCGAGACCATTCAGGCTCTGGATGTTGTCATGAGACATTTGCCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23584
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000087187 Essential Splice Site 438 873 12 20
Genomic Location (Zv9):
Chromosome 19 (position 42464350)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 41907364
GRCz11 19 41492419
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGCATTTGGTTGAATCCCTGTCTAATTTGGTCATGTCTTTGGCTGTTTC[A/G]GAACAAAGCAATAGCAACCCCAGTCCAGGGCGTGTGGGACATGAGGAACA
Long Flanking Sequence:
GGGCGGGGGGCTCTGTTGGAGCAAAAATTATTTGTCGCTGTTTGTCAAATAATTTTGAAATTAATGTTTTATTGACCAATACATTAATAAAATTTTTTGGAAAAAGTACTGAATAATATTTACAACTGAATAGTATTGTATTTTCAATGGAGTTTCTGTGCTAGCCTGCTTTCATCGGAAGTTCATCATTGGCTGAACAACACTAGCTGTGCATATAGCCCATTGCAACACTGAAAATGGACATTAGTAACAGGTGTGAACCAGAGCATTAAATTTCACCCTTACCTTCATTTGTTTGCAACAGATGAGAAGTGCCAACTTCAATACAGATCCTTATGTGCGTGAGTTTGGAGTCATGGTAAGAGACGATATGACTGAAGTCAATGGTCGGGTTCTTCAAGCACCGTCGATTCTCTATGGTGGAAGGGTAAGAATCTCCTCTGCTCAACTCAGCATTTGGTTGAATCCCTGTCTAATTTGGTCATGTCTTTGGCTGTTTC[A/G]GAACAAAGCAATAGCAACCCCAGTCCAGGGCGTGTGGGACATGAGGAACAAGCAGTTCCACACAGGGATTGAAATCAAAGTTTGGGCCATTGCCTGCTTTGCCCCACAGAGGCAGTGCACAGAACTCCTGCTGAAGTAAGTCAACTTTAAAGTACACATGAACCAGAAGCTGCGTTCGCTTTTTTTTTTTCATATTGTGATGCAGTCGCTATAGAAACAGAATATTAAATAAGAAATCAGTTGCCGTGACTTGTTTTTTCTGCTGCAAGCTGATTGGATGTAGCAAAGTAGGCATTTCATTCAGAAAGATCAGGAAAGGGCTTCGGGAGAGTTATTATAATCTAACAGTCATCACCTCATCAGTTCTGTTGGCTGTCAAAATTGACAGCTGAAGGAGAGTTGAGTATGTTGGCCACGCCCAATACCTTAGACAAACGTAATCTGAGAAGTTAACCAAAAAACCAGGAAGTGCATTTTCAGATTTCAATTATTAATTATTA
Associated Phenotype:
Not determined