ZMP
zgc:92578
Ensembl ID:
ZFIN ID:
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 |
| sa29424 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| 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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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:
sa29424
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000004721 | Essential Splice Site | 149 | 380 | 6 | 11 |
| ENSDART00000020153 | Essential Splice Site | 388 | 619 | 9 | 14 |
| ENSDART00000135912 | Essential Splice Site | 371 | 602 | 10 | 15 |
Genomic Location (Zv9):
Chromosome 20 (position 38528330)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 20 | 38600742 |
| GRCz11 | 20 | 38503621 |
KASP Assay ID:
2261-4743.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCGCTGGAGTGCGATTACATAAGAGAAGCCAAGTGTGCTCGCAAATTCAA[G/T]TGAGTGAATACAAACACACAGAGATCTCCTTCTCACTGCTAACCTAAAGT
Long Flanking Sequence:
AACCGTATGCCTATTACATATCCATAAAATACTGTGATATTGTAATATAATACTATAAATTATAAATACTATAAAACTATGATAGTAATAGTTCTTAAATAAGATTTTTAATAATTATTTAATTATTGAATTATCATAGTTAAAGTATGTTTTCTTGCATTTATTAATAAACACATAATCGACTTAAGCACAACAATGTAAAATAATAATGGTTTAATATGTACTTTGAAATGTTTTCATTTTAAATCGTTACAAAGTGTACTTTTTAAGTGTACTTAAGTAAATGGTATTTAATATATTTGAGTAACTAGGTAATGAACTAATTTATCTCTTGGCGAATTGAGTCCTTTTTGTTTAAAGTAAGTAATGGGGTGACTACTGTGTGACTGTGTCTATGAACACGCAGGTCTGTTCCCGGAGCATCTGATAGATGTGATGCGGCGTGAGCTGGCGCTGGAGTGCGATTACATAAGAGAAGCCAAGTGTGCTCGCAAATTCAA[G/T]TGAGTGAATACAAACACACAGAGATCTCCTTCTCACTGCTAACCTAAAGTCTGATATTAGTCCGACTGAAATCAAAAATAAAGTTTTCTTTTGGGTGTTAATATCAATATGGTAGTCTTAAGGTTATTTATAAGCTAGTAAGCTCCAAAACAAAAAGACAATTTTCATTTAGTGTAGTCGTCAATAGTCTAGGGGGCATTACTCTGACATATAGCGCAACATCAGCACCTTCAGTTTGAGTCTCAATTCGTGGACTTCTTTCTTGATAATACATGCATTCATAACTTGCAGTTTCCGACTTACTAAGGATCAATGTGGGTTTTTTTTTTTTGGTTTTTTTTTTATGACATAACTTCAGAGATCTTTTGACCAATTAAATGCTTTCGAATATCTGAATTTTCTCACACCTAGAATGTTATGATGTTATAGTTGGCATGAAAACAAAATTTACTTATTCTTATTGTTATGTGTATATAGTAGTGTTTGTGTTTCCAACAATC
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.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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