ZMP
si:ch211-281g13.4
Ensembl ID:
ZFIN ID:
Description:
hypothetical protein LOC794323 [Source:RefSeq peptide;Acc:NP_001139174]
Human Orthologues:
HERC5, HERC6
Human Descriptions:
hect domain and RLD 5 [Source:HGNC Symbol;Acc:24368]
hect domain and RLD 6 [Source:HGNC Symbol;Acc:26072]
hect domain and RLD 6 [Source:HGNC Symbol;Acc:26072]
Mouse Orthologue:
Herc6
Mouse Description:
hect domain and RLD 6 Gene [Source:MGI Symbol;Acc:MGI:1914388]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa39681 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa38291 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa44512 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa39681
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 > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113049 | None | None | 757 | None | 21 |
| ENSDART00000138510 | Essential Splice Site | 71 | 985 | 1 | 24 |
Genomic Location (Zv9):
Chromosome 1 (position 50064351)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 48913532 |
| GRCz11 | 1 | 49557952 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCGGTGCTGAGACTGCGCGATGAAGACTGTAACCAAGATGGAAAACTAA[G/T]TATGATAAATGTAGTGTGGGTAAAGTTACTATTAAAACAGGCCCGTATCC
Long Flanking Sequence:
TGTTGTGTTTAAAATCCAGTTAAAACCAGTTAACACACTGTGTATTGTACAGTGTTAAATCCCATATAATACCCCGATTGACATGAAAACAAAACGTTCAAAATATCTTCATGGCAGAGGTGTTGAGGAAATTCGCCTTGGTTTCTTTCGTTTTCCCATCCGACCATAAACGCGGAAGAATAACAAACATCACTTTCATTTCGAGGGAAATCCTGATGCGCGTTCACCGGTCCATGGATTCAGCGAGACGCTGCTGGAGTCTGAAGGTTTCATCCTCGCGGTGAACATGTTGTGTTATTGGGGAGCGCAGGTCCGAGAAGGATTCGGTTTGTTAAAACCTGAGCAGGTCAGACATGGAAACGGGGGGGTTAAATCTATCTGTCCGAAATCAGCTGTTCAGGACATGTCAGCTGGGAAGACTTTCGTTGGATTCATCCGGGATGGGAAGGTGTCGGTGCTGAGACTGCGCGATGAAGACTGTAACCAAGATGGAAAACTAA[G/T]TATGATAAATGTAGTGTGGGTAAAGTTACTATTAAAACAGGCCCGTATCCCGCCTATTTAAAGGGGTGGTTATGTTTTGCAGTGATTCGCCTCATTTTTCTATTCAATTATGGATTTTTGTGACATTTTAAGAATTAATATTTGTTGAATCAGCTTGTCGGATTGTGATATCCACACTTTTTTGATGCACCAACAATATTTCCTACGATTTTGTCAAAGTGCTTACCAAACAATTTTTTTACTACAAAGTATTTATTAACACATTTGGATCTAAACTGTGAGTAAACCAGTTTTATTAATGCTGTTATAAGATTAGCATTTTAAATTAAAAAAAAAAATTATAAAGAAATATGCAAAAATACAGTACTATTAAATACAAATTTGTTATCATTTATTCATTCTCTTGTCGGCTTAGTCCCTTTATTAATCTAGGGTCGCCACAGCGAATTGAACCGACAACTTATCCAGCATATGTTTTACTCAGCGGATGCCCTTCCGGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38291
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113049 | Nonsense | 593 | 757 | 17 | 21 |
| ENSDART00000138510 | Nonsense | 656 | 985 | 17 | 24 |
Genomic Location (Zv9):
Chromosome 1 (position 50055708)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 48904889 |
| GRCz11 | 1 | 49549309 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTTTTAGGCAATGCCACGTTCAACGTGTTGCACATAAACAGAGAGTCAT[T/A]GTTGATGGACACACTGAAGTATCTCAGGCAAAACACCCACTCATTTTCCC
Long Flanking Sequence:
CTTATTTCTTATTAATTTATATTTTATTTTATTTTTTTTGAGGGGAAAAACAAAATACCAAAGAATTGTCTTTATTTATTTCAATAGCTGCAGGCCACCATAGATGACCTGGCCGATTGGGATCCATTCGTGGATTATGTTTACATGATGAAATTGAGAGATTATTTCATTGTAGGTTTCAATCTAACATTGACATTTGAAATTATTTTGATGAAATGTTCTTATATTAGTGCATTTCTTTCAGAAAACACTTGAAATATTGGTCAAGTTCCCTTTTGTGGCTGACTATGCATCTAAACGGGGAATTTTTAATGTAAGTTAAAGATGTGAGAATGTCAAATGCTAAATATCTCTAAATGCAATCATATTATGCCAATGCAAGTTAAGCTTAATGTAATTCTACTTTTCTTAGCACCTTGAGATTAAAATGATACGGAGATCTTCAAACAGGTTTTTAGGCAATGCCACGTTCAACGTGTTGCACATAAACAGAGAGTCAT[T/A]GTTGATGGACACACTGAAGTATCTCAGGCAAAACACCCACTCATTTTCCCATCTATCAAGGGTACGTAGATACCACTAGAATGCATAAGATAAGGAAACATCGAATTTGGTAGCTTGCAATGGGATATGTTTTGGATTTGAATTGTCTCCTGTGCAGGTGGCGTTCATCGGGGAGGATGGAATAGATATGAGGGGTTTATCAGCAGAATTCTTCTCTCTTATCTCCAAGTCTTTTCTTAAATGGGATAAAAAGATTCTGGAAGTTCATCCGAGTTCACTGGTTTGGTTCAATCCTCATGTAAGTTCTAAAACATGAATTAGAATTTCCCCTTAATGTGGTTTTATTCAAATATTAATATGCAAAATGCTTGTCTTTCAGCATACACGGGGCAATAAAAATTTCTACTATCTTGGAGTGATCTGTGGAATGGCGCTCTACAACAGACATCACATCAACATTGACTTTCCACTGGCCTTATTCAAGAAACTCCTCCAGCAGA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa44512
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:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000113049 | None | None | 757 | None | 21 |
| ENSDART00000138510 | Essential Splice Site | 915 | 985 | 23 | 24 |
Genomic Location (Zv9):
Chromosome 1 (position 50053760)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 48902941 |
| GRCz11 | 1 | 49547361 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGACTGTTTTCTTTGAGCTCTCTGAAGAACACAAGAAGAAATTTCTAAG[T/C]AAGCTTGAATACTTTGCCTCATTTGCATAATTAAGCATTTATATTATAGG
Long Flanking Sequence:
TTCTATAATACGTTACTGCTGAACACATTACATAAAAGACAACTGAAAAAGGGATATTAGACTATACCAGACATATATGGCAACATTTTGCACTTCCAGCTTTTTTTATTTCAAAATAAGAACACTGTGTTTTTTTCATGTAGACAGAAGTATGTGGATTTGTACGTTGACTTTGTGTTCAACAAGTCTGTGAAGACTCAGTTTGAGCAGTTTACGAGAGGGTTCTCTAAGGGCTGCCCGCTCGATGCGTGGACCATGTTTCACCCTGAAGAGCTGCAGGAGCTTCTCCACGGCTCTCCTCAATATAACTGGAAGGAGTTTCAACAGGTAAATGGATACTACATAGATATTTACAACACACTTTTAAATTATAAGTACTTAAGACCTGTTTTGGTGCAGTCGGCTTCCTATGAAGGCTGTTCTGCCTCTGATGAGCTCATCAAGAACTTCTGGACTGTTTTCTTTGAGCTCTCTGAAGAACACAAGAAGAAATTTCTAAG[T/C]AAGCTTGAATACTTTGCCTCATTTGCATAATTAAGCATTTATATTATAGGCTCTCAGCTTCACTGATTCTCTTACTCTTCAGTGTTCTTGTATGGAACGGAGCGTGTACCTGCTGGAGGTTTCTCAAAGCGCCGTATCAAGATTTCTACAAGAGACTGTCCTGATCCAGATGACCATTTACCAAAGGCCCAGACCTGTTTTGGCAGATTAGTTCTTCCGAAATACACTGATATCAACACACTTCGCAACAAGCTAACACACGCAATAAACGTTTGTGAGGTTTTTGGTCTAGAGTAAACATCTCTCGACATTGCAGGGGTCTGTTCTTCGTACGTGGATTACTCAGTAAGCTGGATTTGGATGTTGATGATTTGACATGATCCAGGATCGTTTCGTTTTTCCAAACTGATCTGATTGTTGTTGTCATAACAACAGTTCTGGTAGATCAAACCTGGTCGGGAGCAGGTTCAATTCATATAAACAGGATTAGATCGGGTCAG
Associated Phenotype:
Not determined