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

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