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