ZMP
si:ch211-180j19.1
Ensembl ID:
ZFIN ID:
Description:
hypothetical protein LOC568003 [Source:RefSeq peptide;Acc:NP_001116758]
Human Orthologue:
CPNE5
Human Description:
copine V [Source:HGNC Symbol;Acc:2318]
Mouse Orthologue:
Cpne5
Mouse Description:
copine V Gene [Source:MGI Symbol;Acc:MGI:2385908]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa34398 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa25394 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa41201 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa34398
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000087656 | Nonsense | 5 | 569 | 1 | 21 |
| ENSDART00000143152 | None | None | 563 | None | 20 |
Genomic Location (Zv9):
Chromosome 8 (position 24798571)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 23924389 |
| GRCz11 | 8 | 23945628 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TATGTAAATGAAAATTATAAAACTGTCACACAACTGGTAGACATAACCTA[C/A]TGTAGCCTGCTTGAAGTATTTTCTTGCTCACAAAAGTAAACAGTTTAACA
Long Flanking Sequence:
GTCTTGAATGGGACTATGCCCAGCAGTTTTGGGCATGTTTCTTAAAAAGAGTAATTAGAATAACCGAGTTAGTAACTAAGTTAAATGATAAAAAAAGTAACTAATTACCAGGGAAAGTAACTATTGTGTTACTTTAAGAAAAAAAAAAACTAAATTTGTCAAATGACTATAAAATAAATATAAAACATTGTACACTAATCTACACTATTTTAATGTTGTTCTAGGATAATTTGAGAGACAACCATCAAATTCAGCATATCACTCTAAATATTATCATTATAGTAGCACAATAAAACATTATTGATGGTTTTGAACTATAAGTATTTCTTGCACTTCACAAGAATTGTAAATAAACAAATCTTAATATAAATTCTTCTTCTTAAGAAATGTACCAAAAATAAACAAATAATAATATGACACATACAGTACATACTCTCTTTGTATATGAATTATGTAAATGAAAATTATAAAACTGTCACACAACTGGTAGACATAACCTA[C/A]TGTAGCCTGCTTGAAGTATTTTCTTGCTCACAAAAGTAAACAGTTTAACAAGAAGTGCTCAATATAATACTGAACAATATACCAAAAATACACAATAATAATAGTAATATTAATAATATACACTGTAAAGTGCAAATAAAACTGATATGTAGGCTAATAAAGTAAAAATCACCTGCCATATCTGATCAATATATTTCCAGTTTGCAAGAGCTACCTTGTAAAAAGATGGAAATGGACTCTATCTAAGCCAATCATCATGTTCTCAGTCACATCACGTTCACAGACACACCTATGATCATCACTGGTTGGTTATGTGTCCTGCCCCAGCCCCAAAAACACACACAAACCCCTGAGAAAGAGATTGGTTCTGTGGTTAAGAGAAATGCTGTTTGGATGAAAACTGCTGTAGTGTTCTCAATTATAGTAACTCACATTTGCAATATTGTCAGTAACGGTAATGGCGTTGTAACGAGAGAAACAGTCATTCATTTGATTACTCA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa25394
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 > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000087656 | Essential Splice Site | 51 | 569 | 3 | 21 |
| ENSDART00000143152 | Essential Splice Site | 46 | 563 | 2 | 20 |
Genomic Location (Zv9):
Chromosome 8 (position 24799723)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 23925541 |
| GRCz11 | 8 | 23946780 |
KASP Assay ID:
554-7389.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCCCCAGAAACCTGTTAGATCGTGACACATTCTCCAAGTCGGATCCTTG[T/G]AAGTATCTCTCTTTTTCATGGCTGAAGCATTTATTTTTGAAGCCAAAATC
Long Flanking Sequence:
TCTGCACAGGCTGCCAAATTTAGAATTGAGGTTCAATTTGCCTCCCAAAAATGTATGTAAATGCGTGTAGCACTGTATATAAAACTGTTCTTTTTGTTCAGTTTTTTCTCTGCTCTTATTCCTGCAGCCAAATACTGTTCCTTATTCTTTCAAATGGACTACTGAATTTTCAGAGTGACTGGAGAACAATACGTGTGTAAAAACTGTAATGTCACTGCCTTTGCTTCATTATAAGAATGATAGAGGTGCATCTTCAAAAACACTTAGAGGCGAAATCTCATGTCAAGAGCTCTTTTTGTGGCTGCTAATGGAAGGAAATGGATGGGGTCTGAAAAAAAGATGTAAATGAGAGCTCCATCAGGTTTATTTGTGAGGCCTTTGTGTCATTTTATGCCTGAACTGTTTGACCGAATTGACCTAATTTATCAGCTCTTTCTTTGTTCTTCCTGTTTCCCCAGAAACCTGTTAGATCGTGACACATTCTCCAAGTCGGATCCTTG[T/G]AAGTATCTCTCTTTTTCATGGCTGAAGCATTTATTTTTGAAGCCAAAATCTCTTTAAAATCTATTTTCTACACGTGTTCGCATATACAGAGTTAGTCCTCGGGCTTTGTAACTCACGAACACTATGTTGTTCTCAGGTTCGGTCTCTTCCACACACCTCTCTGAGTTTCTTCTGCTCTCCACACTTTGCCTGTAATTTGTCTACTCTGCCATTTCTCCAAGTTGCCGAAAATGCATGCATAGAATTTGCATCACAATGTGACAGCTTTTCCTCACTATCAACAAAAATGCAGAAACGCTTAATATATGCAGAGCATGAACTCGGCCTCCAGAATACAAATGCTTCTTGAGTCATGGAGACATTTAGACCCGTGTACAGTAAATCTCTCGCTGAAGACATGCGATTATGAAATACAGAGCAATGGGTCAAATAGCATGGCCTTTATTGCATTTTTAATCTTCGCGAGTACGACTTTGATTGCTTAATAGTTGCCTTTTCTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa41201
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 |
|---|---|---|---|---|---|
| ENSDART00000087656 | Essential Splice Site | 114 | 569 | 6 | 21 |
| ENSDART00000143152 | Essential Splice Site | 109 | 563 | 5 | 20 |
Genomic Location (Zv9):
Chromosome 8 (position 24812848)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 23938666 |
| GRCz11 | 8 | 23959905 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGATTTCAGATATGACATTGACTCCAAAAGTCCGGATTTGGCCAAACAC[G/A]TAAGTGTAGCACTTTGTATGTGTGTGTATACTGTGAATGCATGCATGTTT
Long Flanking Sequence:
CCACAGTCCCACACAACTATTATGAACCATAGAGTGTAAACACCTTAGAGCGGCACAGCGAAAACGCATGACTTTCCTGTCCCTTCCTTTCCTTTTATTTCTTTCCTTTCCCTTCATTTTACCCTTTCCTTTCCTTTGCCTTCCTTTCTTTGTACTAGACCTAGTTTTCCATGTTATACAGCTAATAAATGACTGAATTCGGTGATTTCGCACTTTATGCATTGGAAATTAGGGGACCCCATTTGTAACAATAATTTAAAAAATAGGACGAACATTCATTTTTATTGCCAGTTGAGTTTTCTTTCAAGAGAGCAAAATATTCCGATCTTCAAGAATCTCAGATCAATTAATGTGAGGATTGTAGAGCATTCCTCTCCATAACACATAACGGGGCTGTCATTTAAAATATAGGACACGCCATTATCCAACAGAAAACTGAGGCTGTTCTCTTGGATTTCAGATATGACATTGACTCCAAAAGTCCGGATTTGGCCAAACAC[G/A]TAAGTGTAGCACTTTGTATGTGTGTGTATACTGTGAATGCATGCATGTTTGCTTGTGTGTACATGCACGTTTGTTGTTTTCATTGCCAGTTGCTCTCATATTTGGCATGCGTAGTTGTTGATTTTTCGGTTGGTTTTATGCAATCGAAAAATGATTGCAAATCATGTCATCATTTATGTTATGATCAAAAGGGGTGTAGTTTCCCTCTTTGACGAATAAAATTAGCACCATTACACAGGTTCTGAATGTTCTCTGCAGTGTGCCTGTGTTGCTTGGGTTAAGACAGTTTGTTCCCTATTATTATGACAAAAAACTTGTTAATTATATATCTTGACAAGAAACTGAAGGATGAATTTACTTAACACTTCTGGGCTGGCAGTTTTTTCAGTTTTCATTATTTTTTGATAAAAACCTGTTTTATTTGTTAAATAGACTTTTAAAATGTGTGGCAAGTTATGTTTTTTGTTTTATTGATAATAATGTTGTTATTATTATTAATA
Associated Phenotype:
Not determined