ZMP

chchd3

Ensembl ID:

ENSDARG00000032919

ZFIN ID:

ZDB-GENE-030131-5005

Description:

coiled-coil-helix-coiled-coil-helix domain-containing protein 3, mitochondrial [Source:RefSeq pepti

Human Orthologue:

CHCHD3

Human Description:

coiled-coil-helix-coiled-coil-helix domain containing 3 [Source:HGNC Symbol;Acc:21906]

Mouse Orthologue:

Chchd3

Mouse Description:

coiled-coil-helix-coiled-coil-helix domain containing 3 Gene [Source:MGI Symbol;Acc:MGI:1913325]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa20243	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa20243

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > G

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000041420	Essential Splice Site	27	316	None	11
ENSDART00000101634	Essential Splice Site	27	317	None	9
ENSDART00000122520	Essential Splice Site	27	317	None	9
ENSDART00000143317	Essential Splice Site	27	161	None	2

Genomic Location (Zv9):

Chromosome 4 (position 14668740)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	4	15604593
GRCz11	4	15603348

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

TTTTGAGTCGGATGAGAATGACAACATAACGATAGTGAAGGGCATCAGGG[T/G]GAGTGACACACACGTCTGTTCTCCTCCACCTGTCAAACGCACATCAAACT

Long Flanking Sequence:

ATATTTGCATGTTTTTTTTTGTTTATTGTTTTATTTATGCAGGAATTTATTAATTTATTTTCTAATTTATTTCTTTATTTTTTTGCATATTTATTTATTTATTTATAGTTTTGCAGGTTTCGTACTCCATAATTGCATTCCCTTTGCGTAAATAAATAAATCCTAAACCTATTTGAAATCCAAAAGGTTTATCTAAAATGTTGTCGAATGGAAAAACCAAGCACATGCCCAGAACCAATGAGAATCGTCTTTCTTTCCCTGTGCGAGGTGGGAGGGGCTAAAGGCGGAAGCTCTGTTTGTTTCTGGCCCTGGCGTTCGCGCGTAACATAACCAGAGAGCTGTCAACTTTCTGGAGTTCATACTGAACACATTTACATGAAGTAGCTGGCCAAACACCAGCGGGCTTGCTTGTGCGGGAATGGGAGCTAACAACAGCACGCGCCGTGTGTCTTTTGAGTCGGATGAGAATGACAACATAACGATAGTGAAGGGCATCAGGG[T/G]GAGTGACACACACGTCTGTTCTCCTCCACCTGTCAAACGCACATCAAACTGACGCACGCCTTTAATTCACCTACTGTGATCGCAATGAAGGCCTCTAATAGTCTTAACTTATCTAACTGGATAAACATTCTGACCCTGATTGAACACTTCTTACTTCAGCTAACCAAGTAAAGCTGCCATACAGTTTATTTTGTAAGCAATTCTTGACCTGAGAGAAAATATTTTGTAGAAACCTGTTGCAGTTCAAGCATCACAATGTCAACAATAACAGCACTGTGACCCCAAACCCTACCTCACCCCATAACTATCATATACTGTCTAGGTCACCCTTCATACAACTATTTATGTCATATTAGTGCTATTATTAGATTTTATTAAACGACTTTTTGGGGAATACCAGCATCTTTAACCTTTATTAGGCAACGTGAGATGTAAGCAAGGACATTTTGTTTCATAAACAACTCAGAATTGCATTTTAAACCAAGCCTAAAGAAAGTGCA

Associated Phenotype:

Not determined