Busch Lab

ZMP

zgc:92578

Ensembl ID:
ENSDARG00000020123
ZFIN ID:
ZDB-GENE-040718-487
Description:
Chaperone activity of bc1 complex-like, mitochondrial [Source:UniProtKB/Swiss-Prot;Acc:Q5RGU1]
Human Orthologue:
ADCK3
Human Description:
aarF domain containing kinase 3 [Source:HGNC Symbol;Acc:16812]
Mouse Orthologue:
Adck3
Mouse Description:
aarF domain containing kinase 3 Gene [Source:MGI Symbol;Acc:MGI:1914676]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa23773 Essential Splice Site Available for shipment Available now
sa23774 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa23773
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004721 Essential Splice Site 91 380 5 11
ENSDART00000020153 Essential Splice Site 330 619 8 14
ENSDART00000135912 Essential Splice Site 313 602 9 15
Genomic Location (Zv9):
Chromosome 20 (position 38525080)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 38597492
GRCz11 20 38500371
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATGAAATGAGCTGCTTGTGAGGGAATGTAAACTCATTTCTGGTTTCCTCA[G/A]TACCCTGGAGTCGCACAGAGCATCAACAGTGATGTCAATAACCTGATGAC
Long Flanking Sequence:
TAAAAAAAATAGAAAATACCTTTCTGGCATCTTTCAGAAAAACATGTCTTTTATTAGCATTAAGCTGAAGCAGTAGTGTGAGATTGTTGTTCTTGTGTTAGCATTTTCCACATCAAAATCACAAACAAAGTCTTCCACCTCTCACATGCCACAGAAAACACCCTTTAAACAGTGCAATAAAAGTCTAATAGGTTAATTTAGACCATTGACCGCTTCAAGTCCAAAGAGCAATTACCGCTAACTGCTTCTGCCAGTGGTTGCCCTCAGTGTTTTTGGTTAGATAACCCAATTCAACTGGGATGTCTCTCCATTCAGCTTTTTTTTTAGTTAAATAAACAGTTTTGAAATGTTAGGTCCCCCGACGTGAGTCTGCAACAAGATCAAGGCTGTTGCGAGTCCTGTTGTGTTTGTTGTGGATGCTGTTTTAGCAGTTTGATCTTGTTTTGCTTGATGAAATGAGCTGCTTGTGAGGGAATGTAAACTCATTTCTGGTTTCCTCA[G/A]TACCCTGGAGTCGCACAGAGCATCAACAGTGATGTCAATAACCTGATGACGGTCCTCAGCATGAGCAACGCACTTCCTGAAGGTGATACACTTACAATAGCACACAAAACTTCACAGATTTTATTCAGAAATATATTATAATGTTTGTTTTTTTTTTACTGAGGAATAAGTTGTTGTTGTTGTTGTTTTACATTTTGCTACAAGGTAAGACTTTACAGTCACTTTTAAGGTCATTTTAATATACTCTTGCTGATTGAATATCATTTTCCCCAAAACGTTCACTAACTTATTTTACATTATCCAGTGGTATTGTAGTTATTTGTGTATTTATCTTTACTTTTTTAGAGTGGAGCATATCTAGTTACTTGGCACTCTGTTAAATTAGGCTGCAAGTTATTTCAGATCATTTTTGTGATCTGTTCATCTATAATTTGGGATGACATTTCATTAGTCGTCTCTATAAAACTATTATTTAACTTATTATTTAAAAAATTATTCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa23774
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004721 Essential Splice Site 232 380 8 11
ENSDART00000020153 Essential Splice Site 471 619 11 14
ENSDART00000135912 Essential Splice Site 454 602 12 15
Genomic Location (Zv9):
Chromosome 20 (position 38536665)
Other Location(s):
Assembly Chromosome Position
GRCz10 20 38609077
GRCz11 20 38511956
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGACGGATCCCAACTGGTCCAATTTCTTTTATGATCCACAAACACATCGG[G/A]TAAGAGAGCGAGAGAGTCTGGATCAGTGTCGGTTTTTTCATAGTATTTAT
Long Flanking Sequence:
TCAGGCCACGTCAAAATCTGAGGTGGGACTTTGTTTTCCTGACACTTCATCGCCACCTGCTGGTGGAAGAGTTTGCTGGCATCAGAAGGACAAAGTGTAAATAAAAGAGCATGACGTTAAAAAGCCAAGGAATTAAGTATAAATTCAGTCAAATGTTGAAAAAAATCCCAGAGTAGAAGCTGTCGTGTACACTGACAGACATGAAGGCAATTATTGTGATTGAAATGTATAAACAGACCATACCAATATGATTTAAATGCGCATCAGTTATATGGGTTGACGTAAACATTGCACTAAAACAGTCTTTGTTTGGAGATGAAGCTGATCTATGACATGACTGTGTATACTGTGGATAATATGCTGATTTTATTTTTTATTTTTTTAATGATCAGATCTGTAAAAACATCCTGAATCTGTGTCTGAGAGAGCTCTTCGAGTTCAGATACATGCAGACGGATCCCAACTGGTCCAATTTCTTTTATGATCCACAAACACATCGG[G/A]TAAGAGAGCGAGAGAGTCTGGATCAGTGTCGGTTTTTTCATAGTATTTATAATTTTTTTTTACACTAAAAATCAAACGATAAGTCTTAATGTCAATTTAAACCAGAGTACTTTTTATCTTCAATTGTTAGATTTGTTTTTGTCACTACATAATTTGTATACTTTAATTTGTTCGCTTTTTTGGGTTTCTGACTATTATTATTATTTTTATTGTTGTTGTTATAAGCATTTAGAAAGCTGTAGTTAAAGAATATGTATGTGGCCAAATTTGAAATAAACCTAAAATTAATTAAGTTTAAAACTAATCACTTTATTATAGTTTATTTAATTTAGTCCTGTGATTCATGATGTTTCCAAGTGTCACCCGATCCTCCAGAAACCTTTCCAATATGCTGTTTTTTTAAAATAAAAGTAATCTTTCTAATTATTAGTATTGAAAGATAGATATTGTAGCATGTTGTCAAAAAAATCAAAAAGGTTTTAAAAGTTGTCTTCATCTCT
Associated Phenotype:
Not determined