Busch Lab

ZMP

im:7143923

Ensembl ID:
ENSDARG00000037926
ZFIN ID:
ZDB-GENE-050309-44
Human Orthologue:
CPNE8
Human Description:
copine VIII [Source:HGNC Symbol;Acc:23498]
Mouse Orthologue:
Cpne8
Mouse Description:
copine VIII Gene [Source:MGI Symbol;Acc:MGI:1914121]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa24763 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa44389 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa24763
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055274 Essential Splice Site 187 430 9 15
ENSDART00000127507 None None 145 None 6
Genomic Location (Zv9):
Chromosome Zv9_scaffold3545 (position 71651)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 73799516
GRCz11 4 75380736
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGGACTCAGATCAATTTCACAGTGGCGATTGATTTCACAGCTTCTAACGG[T/A]GAGTGCCGTCTTCATCAGGAATTTCTGAAATGTATGCAGATGAGGCATGA
Long Flanking Sequence:
CGCTACCCACTGCGTCGCCCATTTATTAATTAATTTATTGATTTATTAATTATTTTAAATACTCAATTATTAATGCATTAATTTAATTAAAATTTAAATAATATAATTTATTTTTATTTATTTATTTACTCATTCATTCATTCATTCTTTCATTTTCGTTTTGTCTTTGAGTTCGCCACAGCCGAATGAACCCCCCACAGCAGTGGCACTCATTATGAACCTCACTTAATATAAATGTGGGCGTTTGACACAAATTTAAATATATAATGAAAATATGCAAATGTGGTGTATAATAGATGAATGTATATATCATTGACATCTGAATTATCTGAAGGGTTTACATTAGCACATCTTTCGGAATAATTCACCCATTGACTTTTATTGCACCAGGAGCATCTCAACGTTCCCACGACTGAAATAACCCTCACCTTCTCTGTCTCTTTGTTGTGCAGGACTCAGATCAATTTCACAGTGGCGATTGATTTCACAGCTTCTAACGG[T/A]GAGTGCCGTCTTCATCAGGAATTTCTGAAATGTATGCAGATGAGGCATGAAAAAGGGCCGGTAATAGCTGTCCTCTGTCATAATGAGCGAGGTTTAATGCAATAAAGAGCTCTGATGTGTGCGATTATACCGAGAGGCCTAGCCTTTTTCATTCATCTGCGGATTCAAAGGGAATACCACAAAACCGTCTGAATTACAGGGCCATCCTCGACTAACCTATTTCATAAGTTTCAGATTCATAATATCAGCCTTGCAGAGCGCTCAAAGAGTAAAGAGAGGAATAAAACCTTCATCAAATGAATGTCTTTTAACTCTTTTAGCCTTAAAGGAACTCTCAACTTCATTGGAAATAAGTCCTCCTAATGTAAACGGTTGAGTTTTACTATGTTTTAATCCATTCAGCTGGTGTCCGGGTCTGTCAGGAGCATTTTTAGCATAGCTTAGCATACATAAATGAATCGGATCTCACTCGATTTATTATTTTAATTATTTAAAACTCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa44389
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000055274 Nonsense 404 430 15 15
ENSDART00000127507 None None 145 None 6
Genomic Location (Zv9):
Chromosome Zv9_scaffold3545 (position 107788)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 73835563
GRCz11 4 75416626
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGTCTGGCCAAAGACGTTCTGGCTGAGATCCCAGACCAGTTCCTATCCTA[C/A]ATGAGAACCAGAGGCATCAAGCCGTCCCCTGCTCCTCCTCCGTACACCCC
Long Flanking Sequence:
AGCAGATCAGGGACCGAAAACATAAGTCAAAACATCCCATGTGTCTTCAGCCTTCTATGGAGGATGAGGGAGCTCTCGGGTTTAATCTAAGATAACTTAATTTGTGTTCAGAATATCAATGAAGGTGTCAGGGGATTATACCATCATAATAGGGAGAATCGTTTTTGAGTGAACTACCACTTTAAAATATTTATTCCCGTACCCTAATGTTGTTCCGAGGCTTACTGTAGAAACATCATGTACCTCTTTACAGAATGTATTAAGATAACTATGTCACTATTTTGTATTCTCAATTAAATAAGAGCTATATTTGTTAAGCACGTTTAGATCTGTGTATTGTTCTGCAGAGGTATCAGTCTGTGTGATTTCATTCTGTTTTCCTTTGTGTTGCAGTTCGTTCCATTCAGGGACTACATCGATCGCACCGGAAATCACATCCTCAGCATGGCCCGTCTGGCCAAAGACGTTCTGGCTGAGATCCCAGACCAGTTCCTATCCTA[C/A]ATGAGAACCAGAGGCATCAAGCCGTCCCCTGCTCCTCCTCCGTACACCCCTCCAGGACACCCGCTGCAAACTCAGATCTGAAACGGGGCCCGGCGGCGAGCCTTGCAGCACACCAGTATCTCTTTCTCAAGTCGCTCAGCGAGGTGAAGGTTTCCTCAGCTCTTTCTGTCCCTTTTCTCTTTGCACTACGGGGGCTGTAGTCGGACACCACGGTTTGGCAGGATTCTGAGGACAGGTTTACTTCCATCACGGGCGTTCTCTGTCAGGATGTCTCTCGGTTTCTCTCTCTCTGTCTCTCAACGCTTGTGTCTGAGGGCCGCGTTACTGAATGACCGTCGCATTTAGGAGGTGTTCATGAAGGCAAGGAAAAAGTGACGACGTTGCGCCCGGTGTCAGAACTCAGAGCAGCTTCCTCTTCCTCAGACAGGGAAAAGGCCAACAAATCACCAGTCGCCAACAAGACTGTTGTAAATAACTCTCTTCCGTCGTTTCTTATCTCT
Associated Phenotype:
Not determined