Busch Lab

ZMP

si:ch1073-93e12.2

Ensembl ID:
ENSDARG00000059044
ZFIN ID:
ZDB-GENE-100922-143
Human Orthologue:
EPM2A
Human Description:
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) [Source:HGNC Symbol;Acc:3413]
Mouse Orthologue:
Epm2a
Mouse Description:
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha Gene [Source:MGI Symbol;Acc:MGI:1341085]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa17655 Essential Splice Site Available for shipment Available now
sa24236 Nonsense Available for shipment Available now
sa13005 Nonsense Available for shipment Available now
sa24235 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17655
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082045 Essential Splice Site 142 322 3 5
ENSDART00000136436 Essential Splice Site 141 310 3 5
Genomic Location (Zv9):
Chromosome 23 (position 1571705)
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CCAACTTCTACTTCAGYATAGCMGGACAGCAGGCCATGCACTTCTCTCAG[T/G]AYGTGCGAATAAACTTCCTATCCTYTAGGTCAGGRCTATCAGTCCTTTNAG
Long Flanking Sequence:
CTGTTGTGGCGACCCGAGATTAATAAAGGGAATAAGCCGACAAGAAAATGAATGAATGAATGAATGAGATAAGAAAACAACAGAAACAGAATGTCAAAAAAGCTCTTTTATTTGCATAATCCACACAAAAAAAGCATTTGACATATACGAAATATTAATGAAAAATGCTTTTGCACATCACACATGCAGTCACATGAGATTTCTAAGACATTATATCAATGATTTTGTTGAAATGGCGAGAATTCTAGGCAGTTAATACAGTAGGTTTCTTCTCATCCTCTCATTTATCCCAGTTTGAAGTGTTGTGTTGATGTCTGTCTGTAGGCAGTGGGCCACATCACAACCGGTGCTGTGTGTATGATGACAGAAACATGGTGGATGGGATTCACTGTCATCCGATTGGTCACTGGATCCAGGAGACGGGCCACACAGATGAGATGAAACACACCACCAACTTCTACTTCAGCATAGCAGGACAGCAGGCCATGCACTTCTCTCAG[T/G]ACGTGCGAATAAACTTCCTATCCTCTAGGTCAGGACTATCAGTCCTTTAGGGTGGAGCTATTAGTCCTTTAAGGAGGGGCTATCAGGATTTTTAGGGTGGATCTCTCAGTCATTTAGGGCTGGGCTATTAGTTCTTTTGAAGGGAGCTGTAAGTCCTTTAGGGCAGGGCTATCAGTCATTTAGGGTGGTGCTATGACTGCATTAGGGCGGAGCTATCAGTTATTGTGGGTGGAGCTTTCATTATGTTAGTGCAGGGCTATCAAGTCATTTTGGATGGGGCTGTAAGTTCTTTAGGGCAGGGCGATCAGTCATTGAAGGCAGAATTATAAGTGTCTTAGGCCGGGGCTATCATTAATTTTGGATGGGGCTGTAAGTCCTTTAGGGGGGCGGAGCGATCAGTGTTTTAGGGGCCGATTCTCAAATCCACAAATAGTAGCATCTAATTACCCAGAAGCATTTGTATTTTATTTCCCTGCTCTCTCTTTAATCGTGTGTGTGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24236
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
ENSDART00000082045 Nonsense 185 322 4 5
ENSDART00000136436 Nonsense 184 310 4 5
Genomic Location (Zv9):
Chromosome 23 (position 1551276)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 1519651
GRCz11 23 1528758
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTCACGGCGGTGATGAACTTTCAGACCGAGTGGGACGTGATAAACAACT[C/A]GCACGGCTGCCGGCGAGACCTCAGTCAACCCATGACCCCCGAGACCATGA
Long Flanking Sequence:
TCTGCGTCTTGCTACTGAATCTCATAATAATACTATGAAGCGCTGGGGTGATTGTGTTATTGAGGTGGTGCATCATGAGGATGTGTGTTTTGTAAGAACGTTGACCTGCGTACAACATCTATCCAGCCAATCTAATAGATTTCATGACCTCTTTCACCTCAGATCTTCAAAATAAAATAACAAACGTAGAGAAATGACAATAAAGCTCAACTTGAACTTGAACACATTCTGAGGACAACGATTATTTACACAATATGTCTACTTTAACTGATTTCTGGGGGCTTAGCCTTTCTTGTCTCCTCTGAAGAGCTGTGTTGTTTACACACGATAGTTTAAGCTCTGTCTTCATTCGTGCGTCTGTTTTCTCTTTAGGGTGCTGCCGCGTGTCTGGTTAGGCAGCTGTCCTCGACGGGTTGAACATGTAACCCTGAAGCTAAAACAAGAGCTGGGTGTCACGGCGGTGATGAACTTTCAGACCGAGTGGGACGTGATAAACAACT[C/A]GCACGGCTGCCGGCGAGACCTCAGTCAACCCATGACCCCCGAGACCATGATGCATCTGTACAGAGACTCTGGCCTTTCTTACATCTGGATGCCCACGCAGGACATGAGCACAGAGGGTTAGTGTGTGTGTACTTGTTTTTATATCCTGCTGGGGACTTAAACCTGAATACGCATAGAATCATGGAGACGTGTGTCACTGTGGGGACCAAACTTGAGGTCCTGATGGGTAAACATGCTTGTAAATCAGACAGAAGGAAGTATTTTGAAGATGTAAAAGTGCAGATTGTTTGCTGTGAAGGTTGGTTTAGTGGTAGGGTTGGAAGAGGGGAAAGAATATACAGTTTGTTTAGTAGAAACATCATCACTTTACTTACTTCAGCCGCATGTCAGTAGAGTTTTAAAGAAGACGCTTCAATCCCGGTTTGTTGACGTTAAATCAGGTTCATTTTGTGCACTAACATAACGGATATCCATACAGCTGTGGATATTAACCTGTATCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13005
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082045 Nonsense 267 322 5 5
ENSDART00000136436 Nonsense 266 310 5 5
Genomic Location (Zv9):
Chromosome 23 (position 1549358)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 1517733
GRCz11 23 1526840
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATGCAGGAGTGGGTCGCWCCACTGCTGCCGTCTGTGGACTTCTCATGTA[C/A]GTGTTCGGGTGGAAACTCAGGAAAGTGCAGTACTTCCYCACCGCCAGAAG
Long Flanking Sequence:
TCTCTGGGAAACATCCATACACACTCATTCACACTCATACACTATGGCTAATTTAGTTCATCAATTGCCCTATAGCGAATGTGTTTGGACTGTGGGGGAAACCCACGCCAACACGGGGAGAACATGCAAACTCCACACAGAAACGGCAACTGACCCAGCTGAGGCTCGAACCAGTGACCTTCTTGCTGTGAGGCGACAGCACTACCTACTGCACCACTGCGTCTTCCCTATAAATAAATCATTTTAAATCAAATTATGGCTCTGATAGAAACTAATAACCTTAAGTTTTCTGAATGTCATTGTGATGCAATGTAATGCTGCTTTGCAATAATAATTATAAAAAGCATTGAATACTTCTCTATCTCTGCAGGGCGTATACAGATGCTGCCCCAGGCAGTGTTTCTGCTGTTTGGGCTGCTGGAAAACGGTCACAGCGTCTACGTCCACTGTAATGCAGGAGTGGGTCGCTCCACTGCTGCCGTCTGTGGACTTCTCATGTA[C/A]GTGTTCGGGTGGAAACTCAGGAAAGTGCAGTACTTCCTCACCGCCAGAAGGGCGGCAGTCTATATCGATGAGGAGGCCCTGCTGAGGGCCCGAGATGACTTTCATATGAAGTTTGGACAGCTCTGTCCATCTGTCCGCAACACAGAGACGCAAGACAGCACCCTCTAGTGCAATGAACGACTGCAGTTCAGTCATATCAAGGTTTAAAGGATTATGCAATAATCACTATTATAAGGGGTTTACACACAGTTGTGTGTCAGCAGTGTGTGAATATAAGCAGCATCTAATGGTCAAAATTAATTGTTTTTACTAATCAGACTTGATAAAATCAGTCTGCAGAAACTCTTTGATTGACATTCTCACTTTGTACGTGTCATCAGAGGGGGAAAGCCCCGCCCACTAGTAACCATCTCTCTCTTATTAGCATAGGACGTTAGTCTTGTTTTTGAATCTGCCACTATGCTGTCACACAGGCGTTTGTAGCTCCGCCCTCTTCTGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24235
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000082045 Nonsense 271 322 5 5
ENSDART00000136436 Nonsense 270 310 5 5
Genomic Location (Zv9):
Chromosome 23 (position 1549346)
Other Location(s):
Assembly Chromosome Position
GRCz10 23 1517721
GRCz11 23 1526828
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTCGCTCCACTGCTGCCGTCTGTGGACTTCTCATGTACGTGTTCGGGTG[G/A]AAACTCAGGAAAGTGCAGTACTTCCTCACCGCCAGAAGGGCGGCAGTCTA
Long Flanking Sequence:
ATCCATACACACTCATTCACACTCATACACTATGGCTAATTTAGTTCATCAATTGCCCTATAGCGAATGTGTTTGGACTGTGGGGGAAACCCACGCCAACACGGGGAGAACATGCAAACTCCACACAGAAACGGCAACTGACCCAGCTGAGGCTCGAACCAGTGACCTTCTTGCTGTGAGGCGACAGCACTACCTACTGCACCACTGCGTCTTCCCTATAAATAAATCATTTTAAATCAAATTATGGCTCTGATAGAAACTAATAACCTTAAGTTTTCTGAATGTCATTGTGATGCAATGTAATGCTGCTTTGCAATAATAATTATAAAAAGCATTGAATACTTCTCTATCTCTGCAGGGCGTATACAGATGCTGCCCCAGGCAGTGTTTCTGCTGTTTGGGCTGCTGGAAAACGGTCACAGCGTCTACGTCCACTGTAATGCAGGAGTGGGTCGCTCCACTGCTGCCGTCTGTGGACTTCTCATGTACGTGTTCGGGTG[G/A]AAACTCAGGAAAGTGCAGTACTTCCTCACCGCCAGAAGGGCGGCAGTCTATATCGATGAGGAGGCCCTGCTGAGGGCCCGAGATGACTTTCATATGAAGTTTGGACAGCTCTGTCCATCTGTCCGCAACACAGAGACGCAAGACAGCACCCTCTAGTGCAATGAACGACTGCAGTTCAGTCATATCAAGGTTTAAAGGATTATGCAATAATCACTATTATAAGGGGTTTACACACAGTTGTGTGTCAGCAGTGTGTGAATATAAGCAGCATCTAATGGTCAAAATTAATTGTTTTTACTAATCAGACTTGATAAAATCAGTCTGCAGAAACTCTTTGATTGACATTCTCACTTTGTACGTGTCATCAGAGGGGGAAAGCCCCGCCCACTAGTAACCATCTCTCTCTTATTAGCATAGGACGTTAGTCTTGTTTTTGAATCTGCCACTATGCTGTCACACAGGCGTTTGTAGCTCCGCCCTCTTCTGAAAAGTGCACAATC
Associated Phenotype:
Not determined