Busch Lab

ZMP

edem2

Ensembl ID:
ENSDARG00000028448
ZFIN ID:
ZDB-GENE-060519-1
Description:
Edem2 protein [Source:UniProtKB/TrEMBL;Acc:Q7ZVI0]
Human Orthologue:
EDEM2
Human Description:
ER degradation enhancer, mannosidase alpha-like 2 [Source:HGNC Symbol;Acc:15877]
Mouse Orthologue:
Edem2
Mouse Description:
ER degradation enhancer, mannosidase alpha-like 2 Gene [Source:MGI Symbol;Acc:MGI:1915540]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa15242 Nonsense Available for shipment Available now
sa37613 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa45786 Nonsense Mutation detected in F1 DNA Not yet available
sa1793 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa15242
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
ENSDART00000033774 Nonsense 91 599 2 11
Genomic Location (Zv9):
Chromosome 23 (position 7093892)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 7048429
GRCz11 23 6982401
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTCACAGGGACAGAGTAAAGTCCATGTTTTATCATGCATATAACAGCTA[T/A]CTGGACAATGCRTATCCATATGATGAGCTGAGGCCGCTGACCTGTGATGG
Long Flanking Sequence:
CACCTCCATGTAGCCGGGAATTATTGTATTATTTACCTCTGTTCACATCTCGTTACTTCATGCTTACTTTCCTTTTCTCCGCCATTTTCTGCGCCGCGTACCTGTCTCCGATCATCAGTCATGTTAAAGGCAGAGACTTTACTGAGCAGGAAATGTCTCATTACAGGTGACATCTACTTATTTATGCACCCAGCATTAATTACTGAGTTGGTGAGATAATTATGGTGTCGTATAGAAATAATTAAGTGTTTCGAATTAAGTGACAATTAAATAATCCAAGTCGTGGGTTTTCATGGAGAGGTATTTAACGTTTGTCAATGAGATTAGCCATATGTTCATGTGTCAGTGTGTACTATCTAGTGCACTCTATCTTGCGTGTCACCTTTAAAGACGTGTAATTGAAGGAAATTGGAAAGTCATTAGCTGCTTAACAGTTGTATGTTACTTTAATTTCACAGGGACAGAGTAAAGTCCATGTTTTATCATGCATATAACAGCTA[T/A]CTGGACAATGCATATCCATATGATGAGCTGAGGCCGCTGACCTGTGATGGACAGGACACCTGGGGCAGGTATGAACTTATTATGATAGAGGTAAAGTTGGTTTTATATTCGTACATTCATTCATTTAGCAGTCTCTATATTGTTTACTGTGTTACTTTGAATAATCAATTGGAATTAGCATGCCAGTATGACTTCTAAACAACATTACCACTGTCTAGTTCACTGTTAACAATGTTGTAATTTGATAGTCATTTGCTGCTAATATGATTTCCCTATTTAGAATTTGCAAAGTTTTCTGAAATTCTCCTTAATAATGTAATGTCTGAATATCCGAATATAAAACCTACTTTACCTCTATCTTACTATGTTGTGACCAGAAGGAAACAGGACATTTTCTAGTTCAGTGGTCAACATAGTATTAAAGTCTCTCTTATGACTAGTGTCAGACAGAATCTGCAGACGTTTTTGCTATTTCAGCAACGAATTTTGTATAAAATCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37613
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033774 Essential Splice Site 205 599 5 11
Genomic Location (Zv9):
Chromosome 23 (position 7078240)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 7032777
GRCz11 23 6966749
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGACCCCTTCTGCGCATGGCAGAGGACGCCGCTCGAAAACTGCTTCCTGG[T/C]GAGGGACTGACATTTACCAAATCCTATTTTGGTCACACTTAATTTTAATG
Long Flanking Sequence:
GCATCGTGATTTCCGCTTGATGCTTTCCTCATTTATAAGTCACTTATAAAAAAATACACTGTAATTGTGGCGCAAAACCAAATATTTGTAGTAGACAAGTGTGAAAATAATGATAAAAACTAAACTCGTACTCTAGATTCACACAAACTGAGGAAGTCAAAAAGTGTGAGGTTGTGCTGCGCTCTGCTAAATCTACTTTATTTATTGTTTCAAAACAATATTGAAACAATATTTATTTATTGTTTAAAAAAATGTTGCATTTATTTTTGAGTGAAATATGACTTGGCAAACTCATTTCTTGTCATTTGAATTGTAATACTGGGCTGTCCTCCAGTTTGCATAGTGTTTGTGATGATCTTGCGTTTGTCTGCAGTGGTCGGTGGGCTTCTCTCGGCTCATCTGCTCTCCAAGCGTGCTGGGATGAAGGTGGAGGAGGGCTGGCCCTGCTCTGGACCCCTTCTGCGCATGGCAGAGGACGCCGCTCGAAAACTGCTTCCTGG[T/C]GAGGGACTGACATTTACCAAATCCTATTTTGGTCACACTTAATTTTAATGTGCAATTCACGCTATAAACAAGATTTTCAGCTAAATAAATTACTCACTAGTTGCTTATTAGTTGCAATGCTTGATGGAAATTTGTTATGGAATTAAAAAAGGAGTAACATTGAGATGACCAAAAGAATAAGCTGAAGAAACCAGGCTCAGTTGGGCATGACCATTTCTCTTATGGCTGCAATCTAGGCACCGGAGGACTCGCCGCGAAGACACATTTGTCACTGTGATCTTTCAGGAATCCATCTCATTATCTCCATTCCTCCATGACCACCACAGCAGCTGCTCAGAATTCGGATTTGTCCAGGATTATGAAAATCTCAGGAATAAAAAAAAAAAAAATACTAGCATAAGCGGAGATGCTGTTCAAATTATAATGTCTTTAGGGAAGTGTTCCCAGCTCCGGTTGCCCTAAATAATGCAGACTAACAATCGTCCAAAGACGTATGGTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45786
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
ENSDART00000033774 Nonsense 398 599 9 11
Genomic Location (Zv9):
Chromosome 23 (position 7067329)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 7021866
GRCz11 23 6955838
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACAGCGTGTGGCGGCAGTTTGGAGGTCTCCCAGAATTCTACAGCATTCCT[C/T]AAGGTTACACAGTGGACAAGCGAGAGGGATATCCACTGCGGCCAGGTATA
Long Flanking Sequence:
GTAAGAGAGTTGACAGTATCAGAATTGACAGAAACAGTTGGCAGTGACAGAGTTGGCAGCTTTTTCTATCAGTGATTTTTAAACCGGACCACCCGGAGGAAACCCACGCAAACACAGGGAGAACATGGGAACTCCACACAGAAATGCCAACTGACCCAGCTGAGGCTCGAACCAGTGATGTTCTTGCTGTGAGGCGAACGTGTTACCCGCTACGCCACCCAGCAGCCCATTATTCAAAACTGCTTCAGAAAAGTTTTGGAAAAATAAAAGAATGTTTATCCAGAAGACTTAAAATGTACCCACAACAGAATCACCCATAAAGCACATTCACCACCTATATTTGCATTGGAAAGCAGATCCCCGTGGCATCTGGTAATGTCAATGTGTTTGTTTGATATCAGAGTTTAATAGGTGATATTTCCAGTGCTACAAAGAGCTTCCACAACTACTACAGCGTGTGGCGGCAGTTTGGAGGTCTCCCAGAATTCTACAGCATTCCT[C/T]AAGGTTACACAGTGGACAAGCGAGAGGGATATCCACTGCGGCCAGGTATATAGAAGCCCCACAGCACCAGACAGCCATGCGCACATAAAAAAAAAAACTTAGGCCCTGTTTACACTGTCAGGCCTTGATGCCCAATTTCGATTTGTTGCCTATATCTGATTTGTTTGTCTGTCTGTTTACACGTTGTTTTAATTGTGACCAATATCCAATTCATGCGTTTACACTTGCCATACAATTTACGATGTCGCGCATGCATAAAGGCGGGTTCTAGCATCTGTGCCACACTAGCCATGATGAAAGAAATTGTCTTGTTTTTAGCTCTGCGAAATATGCGAATTGTAGTATAAGCAGTGAATGGTTTAGTCCAGATTTACCCCCACGCAGTTCATGTAATGGTATTGCTCTGATGTGTGTGTGTGTAGTTGAAGATGTAGCCTTTGCCTGTGTGCGCACTGGTGTTGGAGAGCATATTCTATGTGTAGCCCTTTATTTTACAGTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1793
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033774 Nonsense 477 599 11 11
Genomic Location (Zv9):
Chromosome 23 (position 7062921)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 7017458
GRCz11 23 6951430
KASP Assay ID:
554-1785.1 (used for ordering genotyping assays)
KASP Sequence:
GACAACCGCATGGAATCCTTCTTCCTAGCCGAGACCATTAAATACCTCTA[C/A]CTCCTCTTCGATCCTGACAACTTCCTTCACAACACGGGCACAGAGTTTGA
Long Flanking Sequence:
CAATTCAGAAATGCAGAGTAATAGTCATATTCAAATCCGTGATTTATCCGAGGTCACCACAGAGTAATGAACCGCCAGCTATTCCAGCATATGTTTTACACAGCGGATGCCCTTCCAGCTGCAACCCAGTACTGGGATACACTCATACATTCACACATGCACTCATACACTACAGCTAATTTAGTTTATTAAATTCACCTATAGGGCATATGTTTGGTGGGCGAGGAATTGAGAACCACTGGCCTACTGTGATATACCTAAAACACGGATTGCTGTAAAAACCCGCCAATGGCAGGCAAGCGTTTTCTCTTAACTGATGAGTTATTTCATTAATGGCTGGAAAAGAGGTAATGTTTAGCAATTTTAATGCCATTTGTAAAGAAACCTACCCAACACAGCTGCTCATTCATCTTTTCTCATAAGGTAAAGGATGTAAGGGACCACAAGTTGGACAACCGCATGGAATCCTTCTTCCTAGCCGAGACCATTAAATACCTCTA[C/A]CTCCTCTTCGATCCTGACAACTTCCTTCACAACACGGGCACAGAGTTTGAGCTGGGGGGTCTGCGGGGTGACTGTATTCTCAGCGCGGGGGGCTATGTGTTCAACACAGAGGCTCATCCGCTGGACCCCGCCGCACTCCACTGCTGCAGCCGAGAGCAGCAGGACCGCAGGGAGATTCAGGACATCCTCCTCAGCTTCTCGCAGCCGCAAACAGAGGAGCCACCACGGGACCAGAACGCAGGTGGCTCTCCGGAGAGCATTGCACTGAAGCCGGGAGAGCAGAGGAAAGCGCCGGTGCTCTCCTGCCCTACGCAGCCCTTTAGTGCCAAACTGGCCGTCATGGGTCAGGTCTTCTCTGACAACTCTTGAACACTGTCCTACCGTGCGTAAAGATGTAGATTTACCTTTGTAATTTAACTTTGGAGAGATTAAATGTTTTCTAAATATGTGTGGAGTTTTTTCCACTCCTTTTATTAAAACTATTAAGGGACTGTTTCATA
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461