Busch Lab

ZMP

EDEM3

Ensembl ID:
ENSDARG00000074129
Description:
ER degradation enhancer, mannosidase alpha-like 3 [Source:HGNC Symbol;Acc:16787]
Human Orthologue:
EDEM3
Human Description:
ER degradation enhancer, mannosidase alpha-like 3 [Source:HGNC Symbol;Acc:16787]
Mouse Orthologue:
Edem3
Mouse Description:
ER degradation enhancer, mannosidase alpha-like 3 Gene [Source:MGI Symbol;Acc:MGI:1914217]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa12132 Nonsense Available for shipment Available now
sa21258 Nonsense Available for shipment Available now
sa10752 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa12132
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
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Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111710 Nonsense 235 889 8 21
Genomic Location (Zv9):
Chromosome 8 (position 20020690)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 19450587
GRCz11 8 19481307
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGAGACAGAGGAACAGTAATCTAGTGGGAACAACCATCAACATCCACTCT[G/T]GAGAATGGGTCCGCAGGGGTGAGCCTGAAACGTACCTAACAACCCAGCCA
Long Flanking Sequence:
ACTTGCATAATACATATTTATTTCTTAGAATCTTCATTTCACTTTCAGAGAAGTGTAATTACATTTATTATAATTCATGTTGATTAGAGCATTTGAGGTCACAAGGCTCGTAGAAACACTGTTGTGGTTGTTTTAACAAACAAAAGAATGCTGAGGTTATTTCAACCCAAAGTGTTGAATCCTGGAATCTTAGTTCTCATTCAATCTTCACAATTGTAACACAAATCTCTTCTGACATAACTGTGGCGTCTGTAAAACAGAAAACATTGGCTTGACCCGCTGTGCACTTTGAAAAGTATTATGAGGTTAGGAATGTTCTGATTGTGTGTGTGTGGCGAAAGAGACTTACAATGCTTTAATCATTTTAAGTAGGCCAGTATTTAGGTGTTGGTGTTTTGTTTGATTGTTTACAGGCTCATGCAAGAAGGGCTCTTGATTTCCTTTGGGAAAAGAGACAGAGGAACAGTAATCTAGTGGGAACAACCATCAACATCCACTCT[G/T]GAGAATGGGTCCGCAGGGGTGAGCCTGAAACGTACCTAACAACCCAGCCACAACATAAACGACTTTCAAAATCAGTCAAGTCTGAGTCTTGTTTGTGTGTGTCATTGTTTCTTTGCCAGACAGTGGAGTTGGGGCAGGCATCGATTCTTATTATGAGTACTTGATGAAGGCATATATATTATTGGGCGATGACCAACTTTTACTACGCTTTAACACTGTGAGTATTACCATACTGTTGTTAAAGTTGTCATAATCCTGTAATAGCTTGTTGTTGTACTGTAACAAGTCTCTTCTCTTTACGTCACCAATCTGGGTTTTTTTTCATCCCAAACATGATATATTTTGAGAAAACTTTGATTAAAATTAGGTCAAATTTCAGTTGCACAAGAGTTTCAGACACCATTTCATGCTGAAGAGGCTGACTTTGCTAATTTCATATGCATGATTGCTCAAGTGGATACACAAACGCACTGTGTAGGAGTAAAATTTAAATTTGAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa21258
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
ENSDART00000111710 Nonsense 332 889 11 21
Genomic Location (Zv9):
Chromosome 8 (position 20019014)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 19448911
GRCz11 8 19479539
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTTAAAGGGAGATATCCGGCCAGCCATAGAGACTCATGAAATGCTTTA[T/A]CAGGTTACCAAGAAACACAACTTTCTCCCTGAGGTACCTTTTTCTACCTT
Long Flanking Sequence:
ATTGATTTTTCTTGTAATGTTTTTTCTTGAGTTGTTTTGATTTCTCTTGTTTGTTGTCTTGCCTTGATTTGTCTTAATTTTTTAGATTTGGCTTGTTTTGTTTTGTTTTGTTTTGTCTTGTCTTGTTTTTTCTTGATTTGTTTTATTTTCCAGACTCTTTTTTTATACGTTATCTTTTGCAACTTAATTTTTATTGTTGTTTTATGTGTATTTTTAAGTTGTGACTGCTTGACATATTTTCCAGCACTATGCATCCATTATGAAGTATATCAGCCAACCTCCTCTACTACTGGATGTCCACATCCACAAACCCCTGCTTCCAGCACGCACATGGATGGACTCCTTGCTTGCCTTTTTCCCTGGACTGCAGGTGAGAAATGAGTATATTCGTGGTCTTTTTTTATTGACTAAATCTCTAAACACAATCATACATCTTTTTGGTCTCTGCAGGTGTTAAAGGGAGATATCCGGCCAGCCATAGAGACTCATGAAATGCTTTA[T/A]CAGGTTACCAAGAAACACAACTTTCTCCCTGAGGTACCTTTTTCTACCTTTTAATACCTTGTACATATCATCACTGCCTGTTGTTTACAAAATCTTCTTGACTCAGAGTCTCGTACTGTCTTGCCAGGCATTCACCACTGATTTCAGGGTTCACTGGGCTCAGCACCCCCTGCGGCCAGAGTTTGCAGAAAGCACTTACTTCCTTTACAAGGTAAAAAGTTATCACTTGTTTCTCAGATAAATATCAATGCAACATTTTCATCTTTTCATCTGTTAAGACCCTCAAATGTAACTGCTTTCAGGCTGAATTGCAAAGTTTGTTTCAGGGCACTAATAACACTGATGTTATCTGGATAAAAGGCCAAAACGAAATTAAACTTGTGTTGATTGACCAAAATCTATTGCCATGTTGATAGGGCTTGAGAATCATTAATATTGTTATTGATGAAATCATAATTTTTCTGCCTATTTTAGGAAAAAAATAATAATTTGAAGAATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10752
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000111710 Essential Splice Site 632 889 17 21
Genomic Location (Zv9):
Chromosome 8 (position 20014365)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 19444262
GRCz11 8 19474034
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CGCAGGCCCCGCRCAGTTTGGAATGGACCTTTCCAAAAGCAGCTCTGGAG[T/C]GAGAATGATTAACRSWGACCTTTTATGATAAAACTTTCTCACCGGCTATT
Long Flanking Sequence:
AACATATATAAATAAACATTTTCTTTAATATATGCATGTCTGTGTGTATTTATATGCATAACAAATATACACAGTACACACACTTAAATCATATCAAAACACTTTAATTTTGGATGCTATTCATTTTTGCCCAGCACCAATCAATACAAAAGCATAAACCAGCCAATGTGCTAGTACAAAACACACTTCTTGACAAAATGTAATTATCATTATCTGAAAAACATTTAATTTATTAAGATAATTTACATGAGACAATGCAGTTAGTATTTTGAATCTGCAACTCAAGTCCTGTTCTTCCTCTCTCCAGGCGGTGAGTGCAGTTGCTGCAGAGGACGGCATGCGCTTTATGCAGGAAATGATGGAGCTTTCTAGCCAGCAGCAGAAAGAACAGCTTCCTCCACGTGCTGTTCAGATCGTCTCACACCCCTTTTTCGGCAGAGTGGTTCTGACCGCAGGCCCCGCGCAGTTTGGAATGGACCTTTCCAAAAGCAGCTCTGGAG[T/C]GAGAATGATTAACGCTGACCTTTTATGATAAAACTTTCTCACCGGCTATTTCTGTGTCATTCTTGGTCTTTTCTAGCTAAAGGGAGTCCATTTATTAGTCATACTGTTCTCTTTTTTCCCCTCTACCTCAGGTGCGTGGGTTTGTGACTGTAGCAGAGCCCTATAATGGCTGTTCTGAGTTGAGTAATGGTGAGATTGTGGCAGGTCGTATCGCTCTGCTGCAGAGAGGCCAGTGCATGTTTGCAGAAAAGGCAAGGCATGTGCAGAAAGCTGGAGCCATCGGAGGAATTGTCATTGGTGAGAAATACTTTAGGGTTCACTAAATGTAATGGTCCTCTTTTAAAAAGCTGTTCAAGCTCAATTGTTAAAATATCATCTAAGAAATATTTACTGTTTATTAAATTGCTAAAAGTCTTGTAGGACTAGAATTTGGTGTTTAACGCTCTTTTTTTTTCCAAATCTTTTTATTAACATTTTGGTACATAAAACATCAATTTCAA
Associated Phenotype:
Not determined