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
sa42678 Nonsense Mutation detected in F1 DNA Not yet available
sa9023 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa22776 Nonsense Available for shipment Available now
sa22777 Missense, Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa42678
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000013571 Nonsense 174 636 5 12
ENSDART00000122250 Nonsense 116 221 4 6
ENSDART00000124544 Nonsense 174 636 7 14
ENSDART00000129449 None None 315 None 5
ENSDART00000132957 Nonsense 116 237 4 8

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

Genomic Location (Zv9):
Chromosome 16 (position 14495351)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 12853810
GRCz11 16 12743930
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCTTTAGGGGGAGGAGGAGTGCACTCGGGAGCAGACTCTGATCAGGCGTG[G/A]CCCCAGAGCTCCGGTGAGGAGGACCTGCAGCTCCAGCTGGCACTGGCCAT
Long Flanking Sequence:
ATTAAGATTTTTTTTTCTATTATTAAGCAGCTGTAGTAAGAACACAAAACAAGCTGGGTTAGATAAACACACACTCTCTGTGTGTCTTTTAGGGTGTGAATGTACGGGAAAAGGCCAAGCAACTGGTGACTCTGCTAAAAGACGAGGAGAGGCTACGAGAGGAGAGGATCCATGCACTCAAGACCAAAGAGAAGATGGCACAGACCAGCAGTGGTAAGAACTAGAAGTGCATTGCAGTAGGAGGGGCTTATGCAGGGGTCAGGACGGACACTCAGAGACATTCCCTTATAAACACTCTTGAGTGCTCTTCGCAGCGTTGGCCAAGTATGGAGCCTGGCAAGCTTTTGGATCTGGAAGCACTTTTAGGGACCAGTACTCCACCATCTATTGATGCATCATAATGGCTATCATTTGACTCCTTCCTTAGCATCTTCGGCCCCTTCTGCTCCTGCTTTAGGGGGAGGAGGAGTGCACTCGGGAGCAGACTCTGATCAGGCGTG[G/A]CCCCAGAGCTCCGGTGAGGAGGACCTGCAGCTCCAGCTGGCACTGGCCATGAGCAAGGAGGAGGCGGAGCAGGTAAAGTCTCAGCCAATCAGCAATTAGGTTCAGGCTGCAGGTAACGTGTAGTACTGACGTGGTTCAGAGTCTGAGGAAGATGATAGTTGTTCTACTAGAAGTGCATTTTTAAGAGACCTAAATGTATAGGATGCTATACAGTTAGTTGGTTGTTTGTACAAAATAAACGCATCCTTTTAGTCCTAAGGGTGTTGTTCATTTTGCGTATTGCCCAGTTGACTGTACAGTATCCTGTTTATTACATGGCTACTTATCAAATAAATACATTACATTAATTTGAGTTTTTTTTGTAAGGAAAGAAGAGACCGTGCTGTGATAAGGTAATTTCTTTGTTTGGGACAGTAATTACACAAACATGCTGAAGAAGACAATGGCAAGATTGACAACGTAAAATGTTTTCTAGAGAGATGTAGAATAAATTGCTCTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9023
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
ENSDART00000013571 Essential Splice Site 229 636 7 12
ENSDART00000122250 None None 221 None 6
ENSDART00000124544 Essential Splice Site 229 636 9 14
ENSDART00000129449 None None 315 None 5
ENSDART00000132957 Essential Splice Site 171 237 6 8

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

Genomic Location (Zv9):
Chromosome 16 (position 14498909)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 12857368
GRCz11 16 12747488
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGCAGAGATCCGCTACGCACTCACAATCAGCCAGGAGACCCACCAACAG[G/A]TCAGGGAGCAAAAATTCATCCGGGTCACACCCTTGCTTTGCTGTCCTCTT
Long Flanking Sequence:
TATATATATATATATATATATAATTATATATTAATTATATATAATTTCCTCTACTAAACAGTGGAAAAAACCAACATGAGCTGTGCTATGCAGTGGAAAATTTCCATAACTATTCAGAAAAGAATGCCTCTGAAATGTCATGTACAACTTGAAGCTATAGCTCTGCCCTTAATAGGCCAACAGCCTTAAAACTCTCTTACGCTGGCTCTGGGCCATCCTTACTGTTGAGCCCTGCCAATAATAACCATATTTAAAGCACCCTAAATCTGCTGCCTTCGCTAATTGCCATCATAAAATAGAAATATTGGTTATTTTCTCTAAAGTATAATGACACACATTCAACTAGGGCCCTTCCTCTGCACAGTTTCTGCACATTTTCCCTCACTTCTTCACTCACACCTGTCCTCATCCTGCCCCCCCTCATTCAGACTACACATGACCCTCTGGAAGATGCAGAGATCCGCTACGCACTCACAATCAGCCAGGAGACCCACCAACAG[G/A]TCAGGGAGCAAAAATTCATCCGGGTCACACCCTTGCTTTGCTGTCCTCTTCCCTTCACAAATCAAAGATCAGCGTGAAACTATGTATACATCAGTGTGTGATCATGGAACGATTGAAATATCTAACAAAATACCTTAAGTGCTTTTTAAAACGTTAAAGATTCCTGTTGCTTTTTTTTTGTTTGTTTGTTTTTTTGCGTGTGTAGAGCTTTCCTCTTGTTATTAATTTCTGTTTGAAATCTTCCGATCAAACTGTACACTTGCAACTGCATGATGAAATCAGATGTACCTACAATTCTCAGTAATTGTCCACTCTTAGTAATTCCAACAGAGGTTGTCAATGCAGTATCAGAGAAGATGAAATGCACACAAGTTCCGAATGTTGTTTATTTGTCTAACTTCAGCCTTGAAGCACACCTCTGAAGCTGATGAGACGTGCGAGTCATATTGCCACAGTTCGATAGACTCCATTTCCCATCAGCGCTCAGATCTTGGTTCACT
Associated Phenotype:
Not determined

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