Busch Lab

ZMP

LOC564556

Ensembl ID:
ENSDARG00000037084
Human Orthologue:
CPNE7
Human Description:
copine VII [Source:HGNC Symbol;Acc:2320]
Mouse Orthologue:
Cpne7
Mouse Description:
copine VII Gene [Source:MGI Symbol;Acc:MGI:2142747]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa7101 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa34232 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa7101
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091052 Essential Splice Site 227 559 6 15
Genomic Location (Zv9):
Chromosome 7 (position 69599634)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 67322303
GRCz11 7 67545655
KASP Assay ID:
554-5189.1 (used for ordering genotyping assays)
KASP Sequence:
ARGTGTCTCTCATTTCCCTGTGCAGCTGTGAYGACGAAAGGAAGTTAAAG[G/A]TAAATRTTAATRSATAAGGTCACTCATTTTKTACCTAACCTWTTTGACTG
Long Flanking Sequence:
ATCACTATTTAAATTTGTTTGATGATCTGAAACATCAAATAAGAAATTAGTGAGGGGCAAACACTTTTTTAAATCATTAAATAATAATAATAATAATAATAGAGTTATATAAACGTGTTTAAAAAGGACAAGGAATTCTTTATCCTTCATAAAAATCATTCATGGGCTCTTTAAGAAAAATTATCCATTGCTTTGCTTTGCTCTAAAGTGTTTTGAAAATCTTTTCGACTCTACAGGACCTCTTCAGCAAGTCAGATCCATTCTTGGAGATTTACCGAATCAATGATGACGGCACAGAACAGCTTGTACACAGAACTGAAGTAAGTAGTTCCACATGTTGGCATAATGAGCTTTTTTCCTGCATAATTTATCTCTTTAGTTTATACAGTGGTTTTAATTTGTATCTACAGGTGATTAAAAACAATCTGAACCCTGTGTGGGAACCCTTTAAGGTGTCTCTCATTTCCCTGTGCAGCTGTGACGACGAAAGGAAGTTAAAG[G/A]TAAATATTAATAGATAAGGTCACTCATTTTGTACCTAACCTATTTGACTGATTTACATCCGTAGAATAAAACAGAGATGTCTAAGTGTTGATTTTATATGAATGAACATTTAAAAACCTAATGTAATTTCTACATCAAAAAATTTAATTCAGGCAAGAACAACAATTAAATGAAAGCTTTTGCTCACAAGGATGCTTTGACTGAACAAAAACACTGACTGATACAGTGTATTGTGTGCCTACTTCATTACTGCTTTGTAGGTATAATGTTAACATAATGTCTGTAACAAGAAATCCATTATGCTGATGATTTAAAAAAATAGTAGATCAAACATATTTAAAGTATTAATTCAGTGCTGGGCGTTACAGTGGCGCAGTAGGTAGTGCTGTCGCCTCACAGCAAGAAGGTCGCTGGGTCGCTGGTTCGAACCTCGGCTCAGTTGGCGTGTGGAGTTTGTGTAGAGTTTGCATGTTCTCCTTGAGTTTGCGTGGGTTTCCTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa34232
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:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000091052 Nonsense 352 559 10 15
Genomic Location (Zv9):
Chromosome 7 (position 69609524)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 67332193
GRCz11 7 67555545
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACGAGTATCTGAAAGCTTTGATAGCCGTGGGGGAGATCTGCCAGGATTA[T/A]GACAGGTTAGTGCTGGTGCTGCTGATGCTGATGATGATGGAGCCGGACAC
Long Flanking Sequence:
TCAAGTGTTTTGAGATGTATCGGAGAGCATATGGTAGCCATTTATGCTGTTTTGGATTGCAACATCTGTTTGATGAATGACTCTAAACAAATAAAACATACATTTCAAGCACTTTAATTATTGATGCAGATGGGCATTTGATTGCAGAACTATTCTCTGCTCTTTTTGTGGGGCTTCCTAGGAAAATAGACAGGCATTTTCGTAGACAGACGTTTCCTTTCAATTTCCCCACGATAGGAGACCACTGTTCCAGGCGTGAAACTAAAACGATTAAACTTATTTGACGATCGATCAGATTATATAAGCTGTTACATTTTGGTCCGACTTTTTGGAGTTTTACCAAGAGAGTTTGTCATGCTGTTATCTCTCTAGGTTGCCATAGACTTCACGGCGTCCAATGGGGACCCTCGCAATAGCTGTTCCCTGCACTACATCAACCCATATCAGCCCAACGAGTATCTGAAAGCTTTGATAGCCGTGGGGGAGATCTGCCAGGATTA[T/A]GACAGGTTAGTGCTGGTGCTGCTGATGCTGATGATGATGGAGCCGGACACAAACACACAGGTTTTGCGACTGGAATTGAGTACATGTAGTGCTGGAAAATAGACTGTTCTGTAATAACTGACAATTGTAAAAGTGAAGGGGGCACATTGGCTCAGTGGTTAGCACTTTCACCTCACAGAAAGAAGGTCACTGGTTTGAGTCCTGGTTTGGCCGGTTGGCATTTCAGTGTACAGTTTGCATGTTCTCCCCATGTTCTCGTGGGTTTCCTCTGGGTTCCTCCACAGTCCTAAGACATGCGCTGTAGCTAAATTGGGTGAACTAAATTAGCCTTAGTGGATGAGTGTGTGTGTGAATGTGAGAATGTATGGGTGTTTCCCAGTACGGGGTTGCAGCTGGATGGGCATCCGCTGCGTAAAACATATGCTGTAAAAGTTGGCGGTTCATTCCACTGTGGCAAACCCTGTTAAATAAGAGACTATAGGCTGATTTATACCGAGGCT
Associated Phenotype:
Not determined