ZMP
eps8l1
Ensembl ID:
ZFIN ID:
Description:
eps8-like1 [Source:RefSeq peptide;Acc:NP_001013331]
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 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa33123 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa40028 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa33123
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
|---|---|---|---|---|---|
| ENSDART00000080749 | Nonsense | 218 | 522 | 9 | 16 |
| ENSDART00000133824 | Nonsense | 218 | 246 | 9 | 9 |
| ENSDART00000133907 | Nonsense | 205 | 242 | 8 | 8 |
Genomic Location (Zv9):
Chromosome 3 (position 16142535)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 16372754 |
| GRCz11 | 3 | 16522554 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTTAACCGCGCTGTGTGTTTGTTAGCTCTCAGCTCAGCGAGACTGTGCCT[C/T]AGTACACACCTGTCTTTTTGGATGGTTGGCAGCCGATAGCTGTAGACGCC
Long Flanking Sequence:
CATTAACTCAGGGTGATAGAAAAATCTTAATGATACTAGGCAAGGCAAACTTATTTATATAGCACATTTCATACACAATGGTAATTCAAAGTGCTCTACATAGACAGGAATAAAAGACACAAGAAAATAAAATGATTACAAGAATTAAAATTGTATAAAAACAGATGTTTTTGTTGCTTGTATTGCCCTATGGTGAAGTTTACATTTTTTGGCTGTGCTATCCCTTTAAGGGCTACACTGTAAAAAATGTAAGGACAGAAAGTCAATACAACAACTGTTTTTACGTTACTTTAACTCATTTAAAGAAGTTAATCATGATTCAATTAAATTGTTTAAGTTGTACAAAGTTTAACCTAGTATTCTTAGTCAGCTTGATTGATGTAAGTTGAGATGACTGGAAAAGTTCATTTCATCTAACTAAAAAGGATTTTTTTACATTATACCCGGTTATTTAACCGCGCTGTGTGTTTGTTAGCTCTCAGCTCAGCGAGACTGTGCCT[C/T]AGTACACACCTGTCTTTTTGGATGGTTGGCAGCCGATAGCTGTAGACGCCAATGGACAACCAATTGAGGACCCCATAGAGGTCCAGCACAAACATGAAGCCCTTATACAGACTCAGCAGGTATGAGGAGACACACTTGCTGTATAAACAACCACAATGTAACAAACATCTTCATCTGCTTTCATTTCTTTTTCCACAGGTAATTGATCAGGCACGTCTGACTGTACACCAGGAGAATGACGGGTTAGTATGGACAGCTGTGTGTGTGTGTGTATGTGTGTCTATGTTAAGCTGATTTGCCCCAATCTACATTGTAAAAGCACTATAGAAATAGAGATAAATTGAATTGTGTGTTCCATACGGAAATCTAATATATGGGCACATATGAACATAAACAGTATATGAATTTATATCTTCTATATTTGTGTACATGTACATGTTTTGAAATATTTGTAAAATATTTACATTTATATATGTAATATACACTCACTGGCCACTTTA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa40028
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
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 |
|---|---|---|---|---|---|
| ENSDART00000080749 | Essential Splice Site | 272 | 522 | 10 | 16 |
| ENSDART00000133824 | None | None | 246 | None | 9 |
| ENSDART00000133907 | None | None | 242 | None | 8 |
Genomic Location (Zv9):
Chromosome 3 (position 16142292)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 16372511 |
| GRCz11 | 3 | 16522311 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACAGGTAATTGATCAGGCACGTCTGACTGTACACCAGGAGAATGACGG[G/A]TTAGTATGGACAGCTGTGTGTGTGTGTGTATGTGTGTCTATGTTAAGCTG
Long Flanking Sequence:
AAAATGTAAGGACAGAAAGTCAATACAACAACTGTTTTTACGTTACTTTAACTCATTTAAAGAAGTTAATCATGATTCAATTAAATTGTTTAAGTTGTACAAAGTTTAACCTAGTATTCTTAGTCAGCTTGATTGATGTAAGTTGAGATGACTGGAAAAGTTCATTTCATCTAACTAAAAAGGATTTTTTTACATTATACCCGGTTATTTAACCGCGCTGTGTGTTTGTTAGCTCTCAGCTCAGCGAGACTGTGCCTCAGTACACACCTGTCTTTTTGGATGGTTGGCAGCCGATAGCTGTAGACGCCAATGGACAACCAATTGAGGACCCCATAGAGGTCCAGCACAAACATGAAGCCCTTATACAGACTCAGCAGGTATGAGGAGACACACTTGCTGTATAAACAACCACAATGTAACAAACATCTTCATCTGCTTTCATTTCTTTTTCCACAGGTAATTGATCAGGCACGTCTGACTGTACACCAGGAGAATGACGG[G/A]TTAGTATGGACAGCTGTGTGTGTGTGTGTATGTGTGTCTATGTTAAGCTGATTTGCCCCAATCTACATTGTAAAAGCACTATAGAAATAGAGATAAATTGAATTGTGTGTTCCATACGGAAATCTAATATATGGGCACATATGAACATAAACAGTATATGAATTTATATCTTCTATATTTGTGTACATGTACATGTTTTGAAATATTTGTAAAATATTTACATTTATATATGTAATATACACTCACTGGCCACTTTATTAGGTACACCTTTCTAACTGCTCATTAACGCAAATTTCTAATCAGCCAATCACATGGAAGAAACCTAATGCATTTAGGCATGTAGACATGGTCAAGACAATCTGCTGCAGTTCAAACCGAGCGTCAGAATGGGAGAAAAAGGTGATTTAAGTGACTTTAAACTTGCCATGGTTGTTGGTGCAGAAACTTTTAGAAACTGCTGTTCTACTGGGATTTTCACGCACAACCATTCCTATAGTTCA
Associated Phenotype:
Not determined