Busch Lab

ZMP

zgc:77499

Ensembl ID:
ENSDARG00000042996
ZFIN ID:
ZDB-GENE-040426-2626
Description:
COX assembly mitochondrial protein homolog [Source:RefSeq peptide;Acc:NP_998491]
Human Orthologue:
CMC1
Human Description:
COX assembly mitochondrial protein homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:28783]
Mouse Orthologue:
Cmc1
Mouse Description:
COX assembly mitochondrial protein homolog (S. cerevisiae) Gene [Source:MGI Symbol;Acc:MGI:1915149]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa42838 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa42837 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa36282 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42838
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
ENSDART00000063129 Essential Splice Site 6 107 1 4
Genomic Location (Zv9):
Chromosome 16 (position 58776456)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 55090648
GRCz11 16 55122736
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGATACTACATTATCATTACCTTCAGTGTACATGGATCCGCCTAAAGCAG[G/A]TAGAGGAAGACTTTCATTTCCGCCAGACTTGTTTGTTGTGAATGTGTGTG
Long Flanking Sequence:
ATCCGCTGCGTAAAAAAACTTGCTGGATAAGTTGGCGGTTCATTCCGCTGTGGCGACCCCTGATTAATAAAGAGACTAAGCCGAAAAGAAAATGAATGTTAATACAAATTTAAATAATGATGCTTAAAATAATGCTGACCATCACAGGAATACATGTAAGCAGGTTGTCTGCTTATAAATAAAGTACATTTAAAAACACACAATTTATAAAATGCCAAAATCGTGTTTACTAGTATTGATTTAAACCATTTACGTCTGTTTACACAAGTTGTTCAAAATAAAATCAAAACAACTTCAGTTCAGCCGGTTTGTAGTTCAGCTTGAGCTCTCAGAACTACACTGACCAGAAGCGCTAGCGGCGTCACCGGAAGTGAGTGAGTTTCCAGCTAAACACGCCGCGCAGGGTCACATTGGATACACACACCGATGTTTTGTAATATTAAATAATAAAGATACTACATTATCATTACCTTCAGTGTACATGGATCCGCCTAAAGCAG[G/A]TAGAGGAAGACTTTCATTTCCGCCAGACTTGTTTGTTGTGAATGTGTGTGTGCTGAGCTACAGTACAGTGTGTTTACTGCTCAGAAATGACAGGAGTTTCTCTAGCGATATAATCCAGTTTACTGATCCACACATTACTGTAGAGACAGACTGCCATACCAGGAGTTATTCTGAATATAAATCACTATAATGAGATCAAAACATACTTATTTTATAACACTGTCCTGATTTTCAACTAAACCATAGTGTGTCTGATCAGCAGCAGCAGCTTCTCATCAATACATTAATGTGTAAATCACTTTCTGCTAATATTTAATCTAATAATGTGGTTCCTGTAGTGATCTATCACATGCAGTCCAAAATGTAGCCATCAAACCATCATATTTATTTAACAATATATTAGCACAGTGGTTCTCAAACTGTGTACAACGCAGGCTTACTTCCAGTGGTACACGGAGGAATCACTGAGTAATAAAAGAAAAATACAATTTTAATCATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa42837
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
ENSDART00000063129 Essential Splice Site 68 107 3 4
Genomic Location (Zv9):
Chromosome 16 (position 58762364)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 55104740
GRCz11 16 55108756
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCAAGTGTCGTGAGGAGAACGCGGCGCTGAAAGAGTGTTTGACGCAGCA[G/A]TGAGTTTCTCTCTTCTACATTCACACACTCATTATCATTTTCCCTCAGAT
Long Flanking Sequence:
GTGCCATGGGGTTATTACTGAGCACAGAGAGTCAGGAGCTCGGTTTAACAGCAGTATAGAGTCCCCTTCACTACACTGGGGCATTAGGACTCACACAGAACACGGGTTGAGCGCCCCCTGCTGGCCTCACTAACAATACTGCGAACAGCAGCCTGGTGTTCCCATGTGCTCTCCCATCCAGACACTGACCAGACTCAGCCCTGCTCCGCTTCAGTGAGGGAGCGCTCTGGTATATCAGGTGATGACGGTCAGTTTCTGCAGGAGCTTTGAGGAGTGTAATTAATGCTTAATGAACACACACACACACACACACACACACACACACACTGAATGAGTTCCTGTGTTCAAAAGAGAAACAGCATTAATTAATTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTCCAGCGTTCAACGTCTGCTGTAAGGACTCGGGTTTCTTCATGGTCTTCAAGTGTCGTGAGGAGAACGCGGCGCTGAAAGAGTGTTTGACGCAGCA[G/A]TGAGTTTCTCTCTTCTACATTCACACACTCATTATCATTTTCCCTCAGATGTGTGTGTGTGTGTGTGTGTGTGTGTTTATTCTCAGCATGTGGTTTTGACTGAATTTAATCATTTCATTCTTTGTCAATATATTTTTTAAATTGTACAAATTTGTGCTTTAATTTTGAACATTTTCTCCAGCAATATTGACTTTGTTTAGTTTAAAGGGTCGTGAACAGACGTGTTGAGCTGTTGACAGTCGTATATGTGTCCCACACAGCTATAAACACTATTAGGACACGCGTATCACACTAAATGTGAAAATTGGTTGTTTTTGCGCTGTTTTGAGCTGATTCGTTCTTTCAGTTTGAAACAAAATGTGAATTTTATTTTTCCTAAATTTAACACGTTTTTTTTCTGAGCATCACATCCCCAACATTTAATTTCAATATTTCAAACAAAATCTAACAAGGTTTTCCCTAAACACATTTTTTTATTTCTGAGCAAGGGAATGTTAAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36282
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
ENSDART00000063129 Nonsense 69 107 4 4
Genomic Location (Zv9):
Chromosome 16 (position 58760460)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 55106644
GRCz11 16 55106852
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GACATTTTTTCTTCTTCTTTTTTATTGTTTTGTGTGTTCGGCTGCAGTTA[T/A]CGGGATCCGGTGTTCTTCGAGGAGTGTAAACAGGAATATCTGAAGGAGAA
Long Flanking Sequence:
TATTGAGAATAAACTCATCAAACTTAGAGGAAACTAGATTTACTCTAAACACTTCAGAAAATAACGTTTTCTTTCTCAGAATGTGAAGATTTTATTCTCAACATTTATTTAGATTTTTTTTTCTCAAAATCCAGCAGTTTTTTTCTGAATTTTACATTATTTCCTACATTTTATTCTTAAATGATTTATTTCTCAAAACAGTTTTGTTTCTTGAAGATCTCGTTAAATTTAGAGTAGAGAAGGAAATAAAATATTGAGAATAAACTCATGTTCAGATGATAAAAGTTTTACACTAAACAGGTTTTTTAATCAATTTGTTTTTGTCTCAGAATGTAAGAAGTTTATTCTCAGCATCTTAAAGTGTAACACACTTTCTCAAAACACAACAGGATTTTTTTTCTCCAAAAATGAATTTTTTTCCTCTAAATTTGACTTTATTAACAATATTTTGACATTTTTTCTTCTTCTTTTTTATTGTTTTGTGTGTTCGGCTGCAGTTA[T/A]CGGGATCCGGTGTTCTTCGAGGAGTGTAAACAGGAATATCTGAAGGAGAAGCTGCAGTATGAACAGACCGGCGTCCCGACCAAAAGCAGAAAACAGAAGCTTCCCACCAGCATGTAGACACACACACTCACGCACGCACGCACACACACACTCCCTTTATATTCATGATTAATCATCCCTCGCTGATCATCACTCAATGCATTCAATGCACATGTGTGTGTTTGTGTGTGTGTGTGTCTCCAGGGAATCAAACACACAGCGGGTCTGAAACACACACACACACACACACACACACACACACACAGATCTGCTGTTTTCTGCAGGTTTACATGTGTTAAACGTGCAGATTTACTCCATTCAGATGTTGAGCGCTGATCGCTCTGATTATAATAAAACATGTTTAATGTTGATCTGTTGTTTATTTATATGTGTACAGTTGAAGACAGCTATTATTGTTGTCTTGCACATTTCTAATCATAATAGTTTTACTAACTCATCTC
Associated Phenotype:
Not determined