Busch Lab

ZMP

epn1

Ensembl ID:
ENSDARG00000010411
ZFIN ID:
ZDB-GENE-040426-2680
Description:
epsin 1 [Source:RefSeq peptide;Acc:NP_998527]
Human Orthologue:
EPN1
Human Description:
epsin 1 [Source:HGNC Symbol;Acc:21604]
Mouse Orthologue:
Epn1
Mouse Description:
epsin 1 Gene [Source:MGI Symbol;Acc:MGI:1333763]

Alleles

There are 4 alleles of this gene:

Allele Name Consequence Status Availability
sa22776 Nonsense Available for shipment Available now
sa22777 Missense, Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa22776
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:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013571 Nonsense 326 636 9 12
ENSDART00000122250 None None 221 None 6
ENSDART00000124544 Nonsense 326 636 11 14
ENSDART00000129449 None None 315 None 5
ENSDART00000132957 None None 237 None 8

The following transcripts of ENSDARG00000010411 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 14500117)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 12858576
GRCz11 16 12748696
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGTGCTGATCCTTGGGCAGGAGCACCAGCAACCGTAGCTCCAGACCCAT[G/A]GAGTGATTCGTCCTCCAGAGTAAATTCTGACCCCTGGGCATCCACAGGTG
Long Flanking Sequence:
TGTTGTTACTGAGGGTTGCGTGTTTGTGTACCTGCCTCTCACTCTCCAAGAGTTACCTGCTCTGTCTGTGTCTCTCACCCTGCGTACGCTCTTTAACACAACAGTGTCTGTAAGCTTGTTTTACTTCCTGTAGAGTATCTTCCTCTACCATTTTGCCACGCTAGCTATTTTCTGATCCACTTACAAGTGTAGGTGTCTGTCTTCTCTGTTCAAACAAACTTCCCTCTCACTCTTTTGCGTACTTGCGCACTTCTTTTCCAATGGGGACTTTCTTACTGACATGTCTCTCTCTCAGTCGTCTCTGATGGAGTTAAGCGCTGCAGACCCGTGGGGAGCTCCTGCGACAGGCTCTGCAGGACCCTCTCCTCCTCCTGCTTTGGGTCCCGCATCTACTGCTGGCCCTTGGGGACCTCCTGATCCATGGGGAGCCACTTCCCCTGCCTCTCCCCCGAGTGCTGATCCTTGGGCAGGAGCACCAGCAACCGTAGCTCCAGACCCAT[G/A]GAGTGATTCGTCCTCCAGAGTAAATTCTGACCCCTGGGCATCCACAGGTGAGAGTGTACAGGATGAGCCTTCCTGATGACCTTGTGTCCTTACCCCAGCTTTTCCCTGTTTTATTTGTGGTGATCCCTGACTTCTCCTTGCGTCCCCCCTCCCCAGCTGTGACCCCACCAAGTGCCGACCCTTGGGCTCACTCAGTGGCTCCGGCCCCTACGCCGCTCTCAGGGTCAACGGATCCCTGGGCTGCGGAAGGAGCCGCCCCTGCCACTGACGGTCTGACCTCTGATCCCTGGAGTGGCTCAGTTAAACAAACTAACGGCACAGGTATAATTGCATTATGCAGACATATAGATCAGTGGTCTCAAACTCAATTCCTGGAGGGCCGCAGCTCTGCACAGATTTGCTCCAACCCTAATCAAACACAGATGATCTAACTAATCAAGCTGTTCAAGACTACTAAAGACTATTAAGCAGGTGTGAGTTGGAGGTGGTTGGAGATAAAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22777
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:
G > T
Consequence:
Missense, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013571 Nonsense 598 636 12 12
ENSDART00000122250 None None 221 None 6
ENSDART00000124544 Nonsense 598 636 14 14
ENSDART00000129449 Missense 235 315 4 5
ENSDART00000132957 None None 237 None 8

The following transcripts of ENSDARG00000010411 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 16 (position 14506553)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 12865012
GRCz11 16 12755132
KASP Assay ID:
2260-9340.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAATATCCCCTATGGGTCCAGGAGGAAACCCCTTGCTGATGGGTCCAGGA[G/T]GACCTGCGCAGCCTTCACTGATTTTGGGCGGGCCATCAGGAGTGGGCGGA
Long Flanking Sequence:
CAAAACCCAAACCAAAACAACCACCCCCACCAAGCATCTCCTCCACATCTAACAACCCCTTCCTCCAGACACAGGGTGTGTTTTTAAAACAGTTGAATAGAAATTGTGTTTGTTTGCTTTTCCCTCTAACATCTTTCTTTCCTCCATTAGGGCCTTCCTCAACAGGTATGGGAGTTACCCCAGGAAGTACCATTTCAAGTAGAGGAGTATCTCCGACTCCACCTTCGGCTTCTAATCCTTTTGGCGCGACCCCAATGGCATCAATCTCCCCTCAACCCTCTTCACTTGGTCTGAACCAGCTGCGTACAAGCCCCGTTCCCCCAAATCCCATGCTGGGTCACATGCCTCCGCCAGTAGTAGGAATGGTTCAGCCAGGAATGGGCATGCCAGGAATGGGGGTCCCTATGGCGGCCCCCGGTTTAAGCATGGGAATGGGCATGCCTTACGGTGGAATATCCCCTATGGGTCCAGGAGGAAACCCCTTGCTGATGGGTCCAGGA[G/T]GACCTGCGCAGCCTTCACTGATTTTGGGCGGGCCATCAGGAGTGGGCGGAGTAATGGGAACAGGGGGATCCATGGGAGGTGGAACCACAGGCACAAGCACCAATCCTTTCCTTCTTTGAGAGATTTCGCCAATCCCACTGGCCCTGTGCACTCAACAACCAATCCAAACCTGCCCTACCAACACAAACAGTTTGTGTTCAACAAAAACAAATGTGTGTTCATCTCTATATTTAATGAAAAGTAAAAACAACAACGTGTTCTTTTCTGTCACAAACAGCATTTCAGTTTTGTTTTGTTCTTTTATTTCCCCCGTTTTATTTGACAGTATTTGAAGTCTATTTATTTCCCTATTGAGTTTTGGTTTCTTTGACAGACATGGATGATTGGTGGGTTCATTCAATGAATGCAGGCTGTTAATATTGTTATATTATTAAGATGATTGTTGTTGCTCAGAATCAGGAATATGAAGAAATGGGAGGAGGAAAACAAGCCACTAATGA
Associated Phenotype:
Not determined