Busch Lab

ZMP

LOC560542

Ensembl ID:
ENSDARG00000008377
Human Orthologue:
EPN2
Human Description:
epsin 2 [Source:HGNC Symbol;Acc:18639]
Mouse Orthologue:
Epn2
Mouse Description:
epsin 2 Gene [Source:MGI Symbol;Acc:MGI:1333766]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa33264 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa40131 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa20093 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa33264
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
ENSDART00000055176 Essential Splice Site 198 590 1 8
Genomic Location (Zv9):
Chromosome 3 (position 39659364)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39522724
GRCz11 3 39664582
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTCGGAGGAGTACGGCAAGTCTGAGGGGTCACCTGCATCATATCATGGAT[G/A]TAAGTAGATGTTTCTTTAGCTTGTCAACTTGCCAAACGGAATTGTTTTCA
Long Flanking Sequence:
ATGGGGGCCCTCCAGTTCTCTGATGTCAGAGATCGCTGACCTCACTTACAATGTGGTGGCCTTTTCGGAGATAATGAGCATGATTTGGAAAAGGTTGAATGACCACGGAAAGAACTGGCGACATGTGTACAAGGCCCTGACGTTGCTGGACTACCTGATCAAAACGGGCTCAGAGCGAGTGGCCCTGCAGTGCAAAGAGAACATCTTTGCCATACAGACTCTCAAAGATTTCCAGTATATCGATCGGGATGGAAAAGACCAGGGCATCAACGTCAGAGAAAAGTCCAAGCAGCTTGTTGTGCTGCTGAAAGATGACGACCGTCTGAAAGGGGAGCGATCTCAGGCCCTGAAGACTAAGGAGCGCATGGCACAGGTCGCCACCAGTGTAGGCAGCAACAATCAGATCGGCTTTGGCCGTGGCTCCAGCCAACCCAACCTCTCCACCAGTTACTCGGAGGAGTACGGCAAGTCTGAGGGGTCACCTGCATCATATCATGGAT[G/A]TAAGTAGATGTTTCTTTAGCTTGTCAACTTGCCAAACGGAATTGTTTTCATGTTGCCATATTGCAGTCTAAACTGCTATAGCAGGGATGGGCAAACTCGATCCTGGAGGGCCGGTGCCTTGCATAGTTTTGCACGAACACTAATCAAACACACCTGCCTATAGCTTTCTAGTGATCTTATCACGGTATGTGATAAGTACCTGGATGACTTGCTACTTCCGGCGAGATTCTGAAGTGTGCATTGGATGCACGCTACACTATCCTATCATGTACTGCTAGAAAATTTATGATTGAATGTGAAGCGACGCAACTGACGTGGGTAGGTCACGTGACCATGACGAAATGGCGGATGTAGTACATCCAAGTTTCCGTTTATTCTGCTTACATTCATACTGTATAGAATAGTGGTCACCAAACTTGTTCCTGGAGGGCCGGTGTCCTGCAGATTTTAGCTCTAACCCTAATCAAACACACGTGAACAAGCTAATCAAGGTCTTTGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40131
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055176 Essential Splice Site 314 590 4 8
Genomic Location (Zv9):
Chromosome 3 (position 39673103)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39536463
GRCz11 3 39678321
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGAGCTGCAGCAGCAGCAGGCCCCACCTCAGACCCCTGGCAGTCCTATGG[T/G]AAACACAGACACACACACAAGGAATTTGCTTTCAGTTGGCCGTTATATTT
Long Flanking Sequence:
AAGTTGAAAAGAACATAATTTAACTATTTCTTTATAACATCTTAAGGTCACTTAATTCAACTTTGCTGAATGAAAATCTTATTTTTGAGTGGTATTATAATTTTTATAGCACCTTTTTACCCTCAGTTGTTGATTTTTCATAGACCTCTAGTGTGAGTCTGACCTTTGTTTAAAAGCTGTAGTATATTTCTTTAATCTCTTCGGTTTAACTTATTTTTTCCCTTTTCTCTTTTTGCGGACTGATTTTCTCATAATGTGAGTATGTCTGTTCACATTGGCTGCTAAATTCTTGTTTTCTCTAGCTAATGTGATTTCTTTGGATGGTTTCTGTAGGCACTAATGTCAGTTGTTGTGGGTGTGTGTGCGCAGCCTCCCCAGTCTTCTCTGATGGATCTGATGGACGCTGTTCCTGAGGGCCATGCCAATCAAGGGACTGACCCTTGGGGAGCAGGAGCTGCAGCAGCAGCAGGCCCCACCTCAGACCCCTGGCAGTCCTATGG[T/G]AAACACAGACACACACACAAGGAATTTGCTTTCAGTTGGCCGTTATATTTCCTTAAGTTCCTTACACATTGTTTTCTATGAATGTACGCACACTGGTGCGTGCCTAAACCCAACCACAACTCTTAGAATGCTGTCAGAATTTCTTGCCACGTCACAATGTCTCCTGTATAGTTTAAATATATGTTTGATTTCCGGTTTTAAATGCGGATGGATAGACGTGTATAGCTCATCGTCCTGAAAGATTTATTTTTCTTTTTAGTTAACAATCCTCTTGACCAGTTGAATTTATTCTAATGCCGTAGGTAAACATATTTGACATCTTAGGAAGCAGAAAATTACATCTTAATCCATCGAACGAGAGGAAAATGCAACCAAATTTAAAATATACATGTGTAAATAATGTGTCCGTTGTACAATACCCCAAACTATCATAGGTTTCTACTTAAATATTCACCTAAGTATTATTCACTTAAGTATTTAACTTAAATATTTTATCTTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20093
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055176 Essential Splice Site 400 590 6 8
Genomic Location (Zv9):
Chromosome 3 (position 39678311)
Other Location(s):
Assembly Chromosome Position
GRCz10 3 39541671
GRCz11 3 39683529
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGGAGGACTTCTCTGAGTTTGACAGCATTCGCTCCTCAGCACTGACAGG[T/C]AAACGATGACTACCACGACTTCGTTTTTCAAATTAGAAAATGGGTCATTG
Long Flanking Sequence:
CTCTCATGCAAGATTGTCCAGCTGCTGCCCTCTTTCCAAAAAAAAAAAAAAGTCTTCCCCTCCTGCCTAGCAAAAGTAATTTTTTTTCTAAATTCATCGGCTGCTGCATCAGTCTTTCTATTGTTTCAGGCATTTCCTGTTGAATATAAATAAAAAATTCATTGAATATAAATTCGGTTCATCTTATTTGTGTTGAATTGGATGGAATAATGAACGAGGACACGACCAAGCATCTTTTTAGAACATAGTCTGGACAGCCTGAATTAGGCTAATACATAAATATCTAAATTTTCAAATCTAAATTAAGTGCAGGTCTCTACACTACATGAAGAACTTTCTGATGTCTTATTTGTTAAAAGCCTAAGCTCTGTCTTGATTATAAATCCCATCTCATCTGTCTTTACCTCAGTTGGTAGCTTTGACCTTTTCTCCACACCAAATGGTAGTTCCAGGGAGGACTTCTCTGAGTTTGACAGCATTCGCTCCTCAGCACTGACAGG[T/C]AAACGATGACTACCACGACTTCGTTTTTCAAATTAGAAAATGGGTCATTGAAATTGATCATGCTGACACATTGTTTTTTTTAAAGGTGATGGAAGAGGAAGCTCTGCCTTACCATCGCAAGCCAGCTTGTCGATTGGCTCAGATCTGTTTGAAGTTCCAAGCGGCCCAACCAGAAAAACTCCAGAATCTTTCCTGGGTCCCAACGCTGCTCTGGTCAATCTAGACTCACTGGTCAGCAAGCCTCTTCAGCAGGCTCCGGTCTCCAACCCCTTCCTTGCTGGAGGTAAAAACACTTCACCAAAAACATGCTTGCACTTGGTATTTGCATAACAAGAGATCTGTTCATCTGGTGTTAACATGCATTCATATGCATTTTTTTGTGGCCACCTTAGTTTGGATTAATAGCATTTTGGTACAGATGCAAAGCCAATTATTCTCAGGTACAAGATTGCTTGATTATATGGTCTGTTTGATCATAGGTCTAAATTATTGTTCTAACC
Associated Phenotype:
Not determined