Busch Lab

ZMP

edem1

Ensembl ID:
ENSDARG00000025094
ZFIN ID:
ZDB-GENE-040426-808
Description:
ER degradation-enhancing alpha-mannosidase-like 1 [Source:RefSeq peptide;Acc:NP_957483]
Human Orthologue:
EDEM1
Human Description:
ER degradation enhancer, mannosidase alpha-like 1 [Source:HGNC Symbol;Acc:18967]
Mouse Orthologue:
Edem1
Mouse Description:
ER degradation enhancer, mannosidase alpha-like 1 Gene [Source:MGI Symbol;Acc:MGI:2180139]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa7046 Nonsense Mutation detected in F1 DNA Not yet available
sa7587 Missense Mutation detected in F1 DNA Not yet available
sa45265 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa31536 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa7046
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003298 Nonsense 100 523 1 13
ENSDART00000088961 Nonsense 103 646 1 14
ENSDART00000147208 Nonsense 100 628 1 12
Genomic Location (Zv9):
Chromosome 6 (position 42880211)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 42951265
GRCz11 6 42948801
KASP Assay ID:
554-4920.1 (used for ordering genotyping assays)
KASP Sequence:
TCGCCMAAGAAGTCCTACCTCAGTTTCTTTGAGGAGGGCAGAGATGAGTA[T/A]GACAGAAAGTACAGCTCTTTCCCGGACGCCCTYAAAGTCAAGATGAGGGC
Long Flanking Sequence:
ACGCCTTCATTACCCAATCGCCTTCTACGTAATGACGTCGCGGGCAGAGGACCACTCAGCGTTGGGCATCAGGGAGGGGCTGGTTTGTTGACAGGAAGTATGGCAGAACTGAAAACAGAAAGAAGAGCTGTGGACTTTTGCGCTTCGTTAAGTCGCAGCGGCTAAGTGAATTATGACTTTGAAGGCCGACAGCAGGCAAAGATGCAATGGAGGTCAATAGTCGTGGGTCTCCTTGTTTTAAGAGTGCTGCTCAATTGCGCGGTGTGGCTCGTGTTTGGACTGGGACCCAGCTGGGGCTTTGACTTCCCCATTAAATTCACGTTCAACTCGCATAAAATTGAACTTTTCAATGATGGCGAAAGAGCCACCGTGAAAACTAACGCCTGGTTGCGGCACCTTTATGACAGCAGAAACCCTCAAGCGAAGACCTGCTCCAAGATCAGCGGGAATTCGCCAAAGAAGTCCTACCTCAGTTTCTTTGAGGAGGGCAGAGATGAGTA[T/A]GACAGAAAGTACAGCTCTTTCCCGGACGCCCTTAAAGTCAAGATGAGGGCCATGGCGCGGGACATGTTTTATTTCGGATATGATAACTACATGAAGTTTGCCTTTCCAGAGGATGAACTGAACCCTATAGCATGTGAAGGTCGAGGGCCTGATGTGCTCAATCCGTAAGTCACTGACTAATTCATAGAAGTTAACCATTTAAGAAACACCTTCATTAAATAACAGTCGTGTGCTCCATATTGTACTGCTTTATATTGGGGTATCGTTAAGTTGGTTTTATATTCGGGCATTCGTTCATTTTTGACCAGTTACTATTTGAGCCAAGCTGCTTTGAATATTTGGTGTGAAATCACATGTAAGTGTGACCTCATAACAACATTAGCACTATTTAATTGGCTGAACATTGTTGTACTTTAATAATCATTGGCTGCTAATGTGATTTCCCCATTTAGAATTACCAAAGAATATTTTCTGAAATTACAATTGGAAGGTGAAAGTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7587
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 > A
Consequence:
Missense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003298 Missense 122 523 1 13
ENSDART00000088961 Missense 125 646 1 14
ENSDART00000147208 Missense 122 628 1 12
Genomic Location (Zv9):
Chromosome 6 (position 42880146)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 42951200
GRCz11 6 42948736
KASP Assay ID:
554-4305.1 (used for ordering genotyping assays)
KASP Sequence:
CTCTTTCCCGGACGCCCTYAAAGTCAAGATGAGGGCCATGGCGCGGGACA[T/A]GTTTTATTTCGGATATGATAAYTACATGAAGTTTGCCTTTCCAGAGGAWG
Long Flanking Sequence:
GCATCAGGGAGGGGCTGGTTTGTTGACAGGAAGTATGGCAGAACTGAAAACAGAAAGAAGAGCTGTGGACTTTTGCGCTTCGTTAAGTCGCAGCGGCTAAGTGAATTATGACTTTGAAGGCCGACAGCAGGCAAAGATGCAATGGAGGTCAATAGTCGTGGGTCTCCTTGTTTTAAGAGTGCTGCTCAATTGCGCGGTGTGGCTCGTGTTTGGACTGGGACCCAGCTGGGGCTTTGACTTCCCCATTAAATTCACGTTCAACTCGCATAAAATTGAACTTTTCAATGATGGCGAAAGAGCCACCGTGAAAACTAACGCCTGGTTGCGGCACCTTTATGACAGCAGAAACCCTCAAGCGAAGACCTGCTCCAAGATCAGCGGGAATTCGCCAAAGAAGTCCTACCTCAGTTTCTTTGAGGAGGGCAGAGATGAGTATGACAGAAAGTACAGCTCTTTCCCGGACGCCCTTAAAGTCAAGATGAGGGCCATGGCGCGGGACA[T/A]GTTTTATTTCGGATATGATAACTACATGAAGTTTGCCTTTCCAGAGGATGAACTGAACCCTATAGCATGTGAAGGTCGAGGGCCTGATGTGCTCAATCCGTAAGTCACTGACTAATTCATAGAAGTTAACCATTTAAGAAACACCTTCATTAAATAACAGTCGTGTGCTCCATATTGTACTGCTTTATATTGGGGTATCGTTAAGTTGGTTTTATATTCGGGCATTCGTTCATTTTTGACCAGTTACTATTTGAGCCAAGCTGCTTTGAATATTTGGTGTGAAATCACATGTAAGTGTGACCTCATAACAACATTAGCACTATTTAATTGGCTGAACATTGTTGTACTTTAATAATCATTGGCTGCTAATGTGATTTCCCCATTTAGAATTACCAAAGAATATTTTCTGAAATTACAATTGGAAGGTGAAAGTTCACATGTGTGAATATAAAACCAACTTTACCTTAATCTGCTTTATCTTGAGCATAATATCTTGGCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa45265
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003298 Essential Splice Site 179 523 2 13
ENSDART00000088961 Essential Splice Site 182 646 2 14
ENSDART00000147208 Essential Splice Site 179 628 2 12
Genomic Location (Zv9):
Chromosome 6 (position 42878651)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 42949705
GRCz11 6 42947241
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCTTGGAAACTACTCTTTAACTCTCATCGATACTCTTGATACACTGTTG[G/A]TAAGTAAACATGTATTTATTTACTCTCCTTTAGACCATCCAAGATGTTGG
Long Flanking Sequence:
ATGTCTTTGGACTGTGAGGGAAACTGGAGCACCCGTCGGAAACCCACGCAAATATGGGGAGAACATACAAACCCCACACAGAAATGCCAACTGGCCTAGTCGGGACTCGAACCAGCAACCATCTTGCTGTGAGGCAACAGTGCTAACCACTGAGCCACCTTGCCACAAATTTGCAAATAATACATTTCTGAAATTATATGATTAGGGAGAAAGTTTGAATGAGCGAATAGAAAGCCAACCTTGTCCCAATAACCTTTTGATAAGTTAGAAAACTAAAGAAACTTTCTAAATTAGTCACAATGCCTGTGCAAAACAGAACTTTCATGGCAAAAGCAGAAATATCTCTTTCATAGTCTGCACCACAGATGTTGTTGTTGTTGTTTCTATTGTTGTTTTCATTGTAACTGAATTGAATTGTTCCTCTTAGGTCAAATATCAACATTAATGATGTTCTTGGAAACTACTCTTTAACTCTCATCGATACTCTTGATACACTGTTG[G/A]TAAGTAAACATGTATTTATTTACTCTCCTTTAGACCATCCAAGATGTTGGTGACTTTATTATTATTCGTTATTCATCAGTGACTGACCAAAGAAACAATAAAAGCATGAAAAAAATATTTAATACCTTTAATGCACCTCATCCTGAAGTGGAAAAGTGACTGAACATTATTTACAACGTTATTACTTTTGATCTACAGCCTAAACAAATGGTCTCAAGTGCATCTTGTAGCCTTTCAATATGTAGATAAAAATTTTTATTTGTAACTTATTAAATGATCTAGGTTACAGCATCAAGGATTAGTTTATGTATGTAATATTTTGATGCACAATGCAACGATCACATTCTCCCTCTACTATAAACAAACAGTATCAGGTCATTGAATTATGTGACAGGACACTGATGCAGTAGTTTAAAGAATATAATGGTGAAAATCAGTTGATTCACTTAAAAAGATCTATGGTTATTGTCAGGAGTTAAGAGTATTAATTTTGTTTTGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa31536
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:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000003298 None None 523 13 13
ENSDART00000088961 Nonsense 623 646 14 14
ENSDART00000147208 Nonsense 605 628 12 12
Genomic Location (Zv9):
Chromosome 6 (position 42865635)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 42936689
GRCz11 6 42934225
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACCTGTTTTTGACAAATGTTTATTTGTGCAATAGTGTGACCGGATTCCT[G/T]AAGAGAGACGTTATGGTCTTCCACTAAAGAGCATGTACATGAGGCAAATA
Long Flanking Sequence:
AATAAGTGAAGTTTCACTATCTAATTTTGAGAGGAGCACATGATATGATTGATCGCAGCTGGTCTTTCATTTGTTATCGGCAATAATCCAATCAGATTGATTTAAGCCTACAATAAATTGATCTATTTTGATCTATAGCCATATCTTCGGTTTGAAAGAATCCCCTTTTCCACCCCATCTCCTCCTCTTTCATCTTTTACCAGGGGAAGCTCTCGAGACCTACCTGATCTCGGATCCCCTTATATGCTTATTGACCAGGCGGGAGCTCTGGGCTCAATTATCTCCGAGTTCGGGGTTCTCTCCTGGAGCAGCATGCTAATCCTGCTAATAGCTTCAAGCAATATCTGTGTGAATTCTTGAAAGACTATATTCTACTATCATTTTGAATATTTATAATTTTCTTCCAAAAAAAAAAGAAAAAAAAGAGGTATTTATTGGCGATGTAAATATGACCTGTTTTTGACAAATGTTTATTTGTGCAATAGTGTGACCGGATTCCT[G/T]AAGAGAGACGTTATGGTCTTCCACTAAAGAGCATGTACATGAGGCAAATAGACCACATGGTGGGGCTGTCCTGACGTCAGTCCTGCCTCCTGTAGGTCTGACATACACACAAACCCCCTGGAGGTACTCAACAACTCTCCAAACAGAACTTTTTAGTCTCATTTTGCACATTGAGATTTTTTTTTTATCAACAAATCAACTAGCACCAATTGTTCTTTTTTTTGTTCCAGTGTGTCTTTTTTGTGGCATGAAAGTGTCACTCTTAAGTTAGATCAGGTATTTGGATTTGGTTACATTTTCGGATCCAGCCAGCAAACATCCACAGCATAAAGCAAACTTGTTCAGGGCAGTTCGGCTGTTCAGAATTGTAACAACAGTTATTATTATTATTTTTTTTATTCTTGGGCTGATTTCTATATTGTGCAATCGAGTGTGTTTACACACCCAGTGTTACACGGTTTCTTCAGTGCCATGTTTAATGAAACTTGATCTAGTATTAC
Associated Phenotype:
Not determined