Busch Lab

ZMP

LOC100329385

Ensembl ID:
ENSDARG00000038996
Human Orthologue:
EGLN1
Human Description:
egl nine homolog 1 (C. elegans) [Source:HGNC Symbol;Acc:1232]
Mouse Orthologue:
Egln1
Mouse Description:
EGL nine homolog 1 (C. elegans) Gene [Source:MGI Symbol;Acc:MGI:1932286]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa22384 Nonsense Available for shipment Available now
sa11386 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa22384
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056927 Nonsense 55 328 1 5
Genomic Location (Zv9):
Chromosome 13 (position 50154393)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 48885431
GRCz11 13 49176109
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCAGCAAAGAGCATCAAAAGGAGCACTGGAAAAAGCACAAACTCACCTGC[A/T]GAGAGGCTGACAAACACAACACTGTGCCCCAAACCCAACAACAGCACCCC
Long Flanking Sequence:
TCTCCCGCCTTCAGTAGTGTGTGAAATGTGAATGAAGCGAGGCGGGGCGTATTTATCATGTCACATCTGTAACCACGCCCTCCCTCAGTGACGTCAGAGGTTTGGTTTGTACTTGCGACGTGCAGAACGCAGAGCAACACAGCCACGCGCTTGTAGAGGAGAGCGCAGCGGGATGGAGCGCGCGCGCTGCACGGTGTCGATCCCGACCCCTGTGGTTTATTTAACGGGAATATCTTACCGTGATGAACGGACGCGGTTGTTCGTTCGTATATGTTGATGCTGACGCGTTGTGCGTGAAAGTTGACCGGTGGAAGCACCGGATTTAAAGGGTCGGTGACATGGAGAAGTGCCCGACAGTTCTGGATCCCGACGGGGATAAGCAGTACTGCGAGCTGTGTGGGAAGATGGAAAACCTGCTAAAATGCGGTAGGTGCAGGATCTCATTTTACTGCAGCAAAGAGCATCAAAAGGAGCACTGGAAAAAGCACAAACTCACCTGC[A/T]GAGAGGCTGACAAACACAACACTGTGCCCCAAACCCAACAACAGCACCCCAAAACTGCCCATCCAGAGAAAAACAACCTGATCTGCAGCTCAGAAGCTGATCTGAAAGCCAAACCCCACACACAGAAGCTGGCCACCGATTATATAATCCCATGTATGAACAAGCATGGCATCTGTGTGGTGGACAACTTTCTGGGGGAAGACATGGGACTGTCCATTTTGGAGGATGTGAAGGCTCTTCATCAGACGGGTAAATTCACTGACGGTCAGCTGGTCAGTCAGAAAAGTGACTCTTCGAAGGACATACGGGGGGATAAAATCACCTGGATTGAGGGGAAGGAGCCTGGATGCGAGAAAATCTGCTTCTTGATGAGCCGCATGGATGACCTGGTCAGGAATTGCAATGGGAAACTGGGAAACTACATAATTAATGGAAGGACTAAAGTAAGTATCTGTCTGTCAACTGTGTGCATGCTGTATTTTAGGGTTATGGTGATGTCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa11386
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
Order Allele From EZRC
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000056927 Nonsense 234 328 2 5
Genomic Location (Zv9):
Chromosome 13 (position 50173249)
Other Location(s):
Assembly Chromosome Position
GRCz10 13 48904287
GRCz11 13 49194965
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CATGTGGAYAACCCGAATGGCGATGGGAGATGCGTCACGTRCATTTATTA[T/A]CTTAATAAGAATTGGGATGCCAAGGYATGCAAGAAATCACAGATGYYATT
Long Flanking Sequence:
TAACTAAGTATAAAAATACGATTATTAAACACATTTTAAATATGTTTGTAAGTCAAGAATAGAGCATTTGTAGCTGCAGTTATAAGCTGCTTACTAACGCTTATTAATGTAGAGTTAATGCTTAACAGATGATGATTTCACTATTTGCTAATGCTTAATAAATGATTTATAGTGTGTAGTTATTATAAAGTGTTACCTATTTTTTTTTCTGCTGTTAAACTCTGCAAAAAGTCAACAGGAGGGTTAAAACAGACGTCCTTTGGGAACATCATTTTGAAGTTGGATAAAGGGTTATACATTTACAATATTTCCCAAGGATATTGTAATATATTTAAAATCGCATCATGACACAAGTGATAATATCAACCCTGCTGACCTGTGAGTGTTTTCTGTGTTTTCTGGCAGGCGATGGTGGCGTGTTATCCGGGTAAAGGCACGGGTTATGTGCGCCATGTGGACAACCCGAATGGCGATGGGAGATGCGTCACGTGCATTTATTA[T/A]CTTAATAAGAATTGGGATGCCAAGGTATGCAAGAAATCACAGATGTTATTTAATCCTCAAAGCTTCGACCTGAAAAAAAATTGTTATTAAAAGGGACTCTCAAAATACACATTTGTTTACGTTTTTTTTTTCTTCTATTATTATTATTTAGTTTGACTAATTAACCTAGTTAAGCCTTTAAATGTCACTGTAAGCTGAATACTAGTATCTTGAAGAATATTTAGTCAAATATTATGTGCTTCCATCATGAAAAGACAAAGGAAATTAGTTATTAAAACTAATGCTAAAAATTAATACGTTAACAGTGTTATAAATTCAGATGTCTTTATTTATTTCATTCATTTATTTTCCGTCAGCTTAGTCCCTTATTTATCAGTGGAATGAACCACCAACTAATCCAGTGTATGTTTTACACAACATATGCCCTTCCAGCAGCAACCCTGAACTGGAAAACACCTATACACTTTCACATTCACACACACACACACTCGTACACTACG
Associated Phenotype:
Not determined