ZMP
edem1
Ensembl ID:
ZFIN ID:
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.
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.
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.
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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