Busch Lab

ZMP

im:7147678

Ensembl ID:
ENSDARG00000003313
ZFIN ID:
ZDB-GENE-050506-143
Human Orthologue:
EPS8L1
Human Description:
EPS8-like 1 [Source:HGNC Symbol;Acc:21295]
Mouse Orthologue:
Eps8l1
Mouse Description:
EPS8-like 1 Gene [Source:MGI Symbol;Acc:MGI:1914675]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa24555 Essential Splice Site Available for shipment Available now
sa37957 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa24555
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023519 Essential Splice Site 123 505 4 14
Genomic Location (Zv9):
Chromosome 24 (position 40191698)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 38790489
GRCz11 24 38678252
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGAGTTTATCGACACTTTTCAGAAATTCAAATACTGTTTGGGCCTTTTG[G/A]TGAGTGATTAATGCTAATATAAAAAAATTAAATAATAATAATAATAATAA
Long Flanking Sequence:
GTGGATGAAAATTAAAATATTACTTTACCTGCATCATCCTAAACACACTTTAAAACTGAACCAATGCTGAAACCAAACCTGTTTATTTACACTTTACAATAAGGCTTTATTAGTTAATGTATTTACTAACATGACCTAATTATGAATATTGGTGTACACCATTCATTAATCATAGTTCAATATGCACTAATCCATTATTAACATCCAAATTAATGCTCTTTTACATTATACTAACAACGAACAACTGTATTTTGATTAACTAACATGATGAGATACTGTAATAAATGTATTGTTCATTGTTTGTTCATGTTAGTAAATGCATTAACTGATGCTGGCATGCTTTATTTTGTTGTGTTAAGAGCACAGATTATCAGTGTTTTAGAGAGTGTGATGTGTGCTTGTGTTTTACAGAGGATCTTCTCACGGCTAAAGCCAAACCACCTTCTGAGAGAGAGTTTATCGACACTTTTCAGAAATTCAAATACTGTTTGGGCCTTTTG[G/A]TGAGTGATTAATGCTAATATAAAAAAATTAAATAATAATAATAATAATAATAATAATAATAATAATATATTAAAATAGAATCATATAATATTATATTATAATTTTAATAAAATATTATTAAACTATTAACATAATATGATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGTAATTTATAATTTTTTAAAATGATGATCTTGTGGATAATTTGTTAATTTCAGTTTAATTAGCATTTTTTTACTTCATTATGTATAATAATATTAATAATAATAATGATAATGATATATTAAAATATTATAATATTATATTATATTTTAATATCATATTTTTTAATTATATTAATATAATATAATTTAATATAATAAATATATTTTATAATAATCATTATTAATAATTTATTTATAGTTCATTTTAATGATAATTTTATGGATAATTTACTAATTTCAGTTT
Associated Phenotype:
Not determined

Mutation Details

This allele has been removed from public view.

Allele Name:
sa4280
Status:
Allele not cryopreserved
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
n/a
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023519 Essential Splice Site 148 505 5 14
Genomic Location (Zv9):
Chromosome 24 (position 40192756)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 38791547
GRCz11 24 38679310
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCRTCTGCTGAGGAGCTCGTGCACCACGTTTTCAAACCTCTTGACATGG[T/C]AAAKAAGACACATTTCTCCAGTGCAAACATCAGGGMTTTCWTCACACTGT
Long Flanking Sequence:
ATTAATCACACTTCAAAATAAACTATAATATAAACATATATTTATTTTTAATAACAAAAAATCCCTGAAAAATTACATCTCTAGTTTGTACTTTTTAAACTTTTACTAATTTCCTTTTTTTATTATTATTTTACTATTTTCTAGTTATTTATATGTTATAATAACTCCATAAATTATAATAATGTAAAATATTAATTCATAAATGATAAACAATTATGATTTACTAATATTTTAACATAATATTTTATTTATTATGTAGTTTTTATAATGGTGTAATACTGTTCCCAAATATGATCATCAATAGTAATAATAATAGTATTAATTTTAATAGTTCGTAGAGCTGTCAAACACAGACATGTTGCTACAGGCAGTATGGTTGCACATTTTTCCTTCAGCTCCCCAATAAACAGTGTTTATTTTACAGGCACGGTTAAAACCAGCCATCTCCAATCCATCTGCTGAGGAGCTCGTGCACCACGTTTTCAAACCTCTTGACATGG[T/C]AAAGAAGACACATTTCTCCAGTGCAAACATCAGGGCTTTCATCACACTGTATTGTTTTAAGCATTTCGTCAAATGGGTTTATCAGTGTTTGCACGCTGTTGTGGTAAAGGCTGCAGTAAAGTGCACACAGAGTAATTCACCTTGGTAACTGTGTGTTTGTAGATGGTGAAGGCCACAGGAGGTCCTGGTTTTGCTGCGTCCGTTTCCAGTCCGGCAATGACAGAAGGAGCTGTGAATCTGCTGAAGAACAACCTGACGACACAGGAAAATGCATTATGGCTCTCTTTAGGGCCCAACTGGACACACCAAAGGTAAATGATGGAGAGTAATGCAGTGCTGAAGATCTGTCCTTTTACCAGGACTCCCTGAAAGAAGAAGAGATTTCTGTTAATCCCAATGGGAACTTCCTAACCAAATATATGACTGACAGACTGACTGACTGACTGACTGACTGACTGACTGACTGACTGACTGACTGACTGACTGACTGACTGACTGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37957
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000023519 Essential Splice Site 478 505 14 14
Genomic Location (Zv9):
Chromosome 24 (position 40207938)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 38806729
GRCz11 24 38694492
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATGTTCACAATACACACACTAACCGTCTGTATATCTGTCTGTGTGTGTC[A/T]GGATGCTCACAGAGCCTCAGAGCTGGAGACGGTGATGGAGAAACAGAAGA
Long Flanking Sequence:
GTCTACAGAACAAACCATCCGTATACAATAACTTGCCTAATTACCCTAACCTGCCTAGTTAACCTAATTATCCTAGTTAAGCCTTTAAATGTGACTTTAAGCTGTATAGAAGTGTCTTGAAAAATATCTAGTCAAATATTATTTACTGTCATCATGGCAAAGATAAAATAAATCAGTTATTAGAGATGAGTTATTAAAACTATTATGTTTAGAAATGTGTTGAAAAAATCTCTCCTTTAAGCAGACATTGGGGAAATAAATTAATAAGGCGGCCAATAATTCTGACTTTAACTGTACATCTGGTTAAGTATAATATTTCAGTGCAACCCTACAAATTGATGCAATATGCACTAATCTGCGCATACCTGGCAACCCTGACACACATATGATCATTAGTTAAAGTAATAGTTCATCCAAAAATAGACTGTAAATGTGCTGTTAAGGTAATAAAATGTTCACAATACACACACTAACCGTCTGTATATCTGTCTGTGTGTGTC[A/T]GGATGCTCACAGAGCCTCAGAGCTGGAGACGGTGATGGAGAAACAGAAGATGAAGGTGGACCTGAAAATGGAGAGCGGAACTTTATGAAGATCTGCTGAATGATTGTACACACAGACTAATATTCAGAAACACACCGTTTTTATGATCATTTACCTAACAGTAGCCTGCTTTATGAATTTTTGTTTTATTTTATTGCATGAAATGACAATTGTAAATCTGCAATTACGCATAATGGATTAATATATTATCAATTAAACATGCAATGCGCAAGATTGAAGCGATTAAATCCTCCTTCTCCACAAGAGGGCGCCAGATGCTAACCTGTGCAAAGCACACTCAAACGTCATCATTACTGATTACTAACATCATGATCGTCTATAAAGCAACTTTTGGGGTTTGCATCAGATCTTTAACAGCCTCTTAAATCCACTTTCAGTAATAAAATACAACAAAAGTTAAGCAATGTATGAAAATTCCATCAATCTCTCGTCATGCACTT
Associated Phenotype:
Not determined