Busch Lab

ZMP

eps8l3

Ensembl ID:
ENSDARG00000005704
ZFIN ID:
ZDB-GENE-040426-1335
Description:
EPS8-like 3 [Source:RefSeq peptide;Acc:NP_956655]
Human Orthologue:
EPS8L3
Human Description:
EPS8-like 3 [Source:HGNC Symbol;Acc:21297]
Mouse Orthologue:
Eps8l3
Mouse Description:
EPS8-like 3 Gene [Source:MGI Symbol;Acc:MGI:2139743]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa11186 Nonsense Available for shipment Available now
sa14949 Essential Splice Site Available for shipment Available now
sa34404 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa11186
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099512 Nonsense 20 325 2 10
ENSDART00000137242 Nonsense 20 311 2 10
ENSDART00000139682 Nonsense 20 628 3 20

The following transcripts of ENSDARG00000005704 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 26179341)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 25307259
GRCz11 8 25326398
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGTRTTGTGATTKGTATATTATAGAGGCTTYTCACCTGAGCCATCATCT[C/T]AGGGCTCTGGSATGTCTCKTCCYAGTGCTAAATCCATCTACAGTAAGTRC
Long Flanking Sequence:
TAGAGTGAACTGGGCATAGGGTCGAGGTTGGGCCAGTAGAATAGATTGTTTTCTTTTATTTGGTGACTAAATGCTTCTCACCATTTTCTGAAAGATCAGTGTTGTCAAACCACTACTGTTGAACACAGGACTAGCAGTCAGCTTAGCATCACATACAGAACTTAATCTGCTGTATTTCTGAATGGTTTTATTTGTTCAAACATTTTGTGTCCCATTAATTGTCTGTAATTTTGCATATATTCTTGTAAATATTTATTGTTCTTTCTACATACATATTTTGCACTTATTATGACTATCTTGGTAAATAAACTCACTTTATTGCATTTAGTTAATCATGGTATTTTGTCCCTCACTTATTGATCTTGTGTGTTTGCTTATGTGTTTCACCCAAAATTAATGTTACTCTCCTACCTCTTGACTCAACATCTTTAAAATTGAAACAAAGACATATTGTGTTGTGATTGGTATATTATAGAGGCTTCTCACCTGAGCCATCATCT[C/T]AGGGCTCTGGCATGTCTCGTCCCAGTGCTAAATCCATCTACAGTAAGTACAAACCCATTAAAAACATATCCTAAAAAAATAAAATACCATGATTTTAACTTGACTTTGATGCTTTAGTGCAAAGGAAGGAGTATGCAGAATCGATGAGCAGACAAGACAGCTTTCAGTACAGAGTGGAGGTAAAAATGTTATTTAATTTTAACATAACATATTTATATGTAATTATACATAAAATAACTACTTTCTAATATCTCATTTCTTTTGTATTTGCCATGTTGACAGTTCATAATATTTTACTAATATTTTATTTATCAGTATATTGAAATGCAATTTGAAGGTGTACCTAGTTTAATTAGGTTAATTGGGCAAGTCAGTGGCCAACAGTAGTTTGTTCAGAAGCCAAAATCTGAAGGTGGCTATAACTATATTGACAATAGCAATTTATTTATTGCTATACATTTACTTTTTTACATACACTTTAGAAGAAAAATATAACAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14949
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:
A > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099512 Essential Splice Site 55 325 4 10
ENSDART00000137242 Essential Splice Site 55 311 4 10
ENSDART00000139682 Essential Splice Site 55 628 5 20

The following transcripts of ENSDARG00000005704 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 26176931)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 25304849
GRCz11 8 25323988
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
NNNNNNAAGCGAGAAAAAAGTGACTGGAAATTTTCTTCTGCCTCTGTTCTCC[A/G]GCATCTGTTCACCTGTGCACTGGATGGCAGAGAGGTCAGCAGCATTGATG
Long Flanking Sequence:
TGCTGGTAGATGAACCGTTGCCCCAGTCTAAGGTTAAGAGTACTCTGAAGCAGGTTTTCATTCAGGATGTCTCTGTACATTGCTGCATTCATCTTTCCCTCTATCCTGAATAGTCTTCCAGTTCCTGCTGCTGAAAAACATCCCCACAGCATGATGCTGCCACCACCATGCTTCAATTTAGGGATGGTATTAGCCTGGTGATGAGCTGTGCCTGTTTTTTTCCAAATGTAAAGCCTGACATTCACTTCAAAGAGTTCAATTTTAGTCTCATCAGATCAGAGAATTTTGTTTCTTATGGGCTAAGAGTCCTTCAGATGCCTTTTGGCAAATTCCAAGTGGGGAGTGCCTTTCGTCTGGCCACTCTACCATACAGGCCTGATTGGTGGATTGCTGCACAGATGGTTTTCCTTCTGTAAGGTTCTCCTCTCTCCACAGAAGAGAGAATATATATATAAAGCGAGAAAAAAGTGACTGGAAATTTTCTTCTGCCTCTGTTCTCC[A/G]GCATCTGTTCACCTGTGCACTGGATGGCAGAGAGGTCAGCAGCATTGATGACTGTGTCAACAGGCTGAAGATTCTGGACAGTAAAGGAAAAATTTGGGGTCAAGACATGATCATACAGATCCAGGCCAACCACCTGCAACTGTGTGACATTGAGACCAAGGTCAGTGACAAACTTTATGCTTAAAAACATTTATATTCTTAGCATGCTTGCTTTCATGGTGTTTCTCTTTAGACTTAGCCTCTGCTGATGCATTGTGGGATTTCTCCTGTATTCATTACACTTTAATACACATTATGACTTCTTTTTTTTTTTTTTTTTAAAGAATTGTATGTGCTTGTAAAATGTACTTTTATAATGTTTTATTTAAAATCATATTGATAGAGTAGACTAACAATAAACTCTTTCTCTGTTGCAGGAGGTTTTAGAGTCTGTTCATTTGAACAGCATTAGGAAGGCCAAAGCTGTTCTGGACAGTTGCGTTTATGATTCTCTCCTCATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34404
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000099512 Nonsense 93 325 4 10
ENSDART00000137242 Nonsense 93 311 4 10
ENSDART00000139682 Nonsense 93 628 5 20

The following transcripts of ENSDARG00000005704 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 8 (position 26176815)
Other Location(s):
Assembly Chromosome Position
GRCz10 8 25304733
GRCz11 8 25323872
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGAAGATTCTGGACAGTAAAGGAAAAATTTGGGGTCAAGACATGATCATA[C/T]AGATCCAGGCCAACCACCTGCAACTGTGTGACATTGAGACCAAGGTCAGT
Long Flanking Sequence:
TCCAGTTCCTGCTGCTGAAAAACATCCCCACAGCATGATGCTGCCACCACCATGCTTCAATTTAGGGATGGTATTAGCCTGGTGATGAGCTGTGCCTGTTTTTTTCCAAATGTAAAGCCTGACATTCACTTCAAAGAGTTCAATTTTAGTCTCATCAGATCAGAGAATTTTGTTTCTTATGGGCTAAGAGTCCTTCAGATGCCTTTTGGCAAATTCCAAGTGGGGAGTGCCTTTCGTCTGGCCACTCTACCATACAGGCCTGATTGGTGGATTGCTGCACAGATGGTTTTCCTTCTGTAAGGTTCTCCTCTCTCCACAGAAGAGAGAATATATATATAAAGCGAGAAAAAAGTGACTGGAAATTTTCTTCTGCCTCTGTTCTCCAGCATCTGTTCACCTGTGCACTGGATGGCAGAGAGGTCAGCAGCATTGATGACTGTGTCAACAGGCTGAAGATTCTGGACAGTAAAGGAAAAATTTGGGGTCAAGACATGATCATA[C/T]AGATCCAGGCCAACCACCTGCAACTGTGTGACATTGAGACCAAGGTCAGTGACAAACTTTATGCTTAAAAACATTTATATTCTTAGCATGCTTGCTTTCATGGTGTTTCTCTTTAGACTTAGCCTCTGCTGATGCATTGTGGGATTTCTCCTGTATTCATTACACTTTAATACACATTATGACTTCTTTTTTTTTTTTTTTTTAAAGAATTGTATGTGCTTGTAAAATGTACTTTTATAATGTTTTATTTAAAATCATATTGATAGAGTAGACTAACAATAAACTCTTTCTCTGTTGCAGGAGGTTTTAGAGTCTGTTCATTTGAACAGCATTAGGAAGGCCAAAGCTGTTCTGGACAGTTGCGTTTATGATTCTCTCCTCATAATCTCAGCCCAAGAGCCCAGCCAGCGATTTCCACAGGCCTTCTTGTTCCAGTGTGAGGAGGCCGGGGTAAGGAACGGCTCTCAGACACACTAGATAGTGGTGTATCTGGCTGTTAT
Associated Phenotype:
Not determined