ZMP
edem2
Ensembl ID:
ZFIN ID:
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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.
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.
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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 |