Busch Lab

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 are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa20243 Essential Splice Site Available for shipment Available now
sa40260 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa38434 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa20243
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
Order Allele From EZRC
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

Mutation Details

Allele Name:
sa40260
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000041420 Essential Splice Site 207 316 6 11
ENSDART00000101634 Essential Splice Site 208 317 4 9
ENSDART00000122520 Essential Splice Site 208 317 4 9
ENSDART00000143317 None None 161 None 2
Genomic Location (Zv9):
Chromosome 4 (position 14633656)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 15569509
GRCz11 4 15568264
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGAGAAAGAGTCTCTGCTGAAGATGAAAGACTACAAGCTCAGATATATG[T/C]GAGTAAAAGAGCAAATGTAAAATTGCATGACTGTGTTTAGTGGAGATCAA
Long Flanking Sequence:
CCAGCCATCATTTAAAAGCAGACTTTTAAAATTAAAACTGAATTATTAATTATTGATATAAGAAATTCCAAAAAATATATAATAGTGATAAATACACAAATAATAGTTTTATATAAATAAATGTAAAAATATAAATTTATCAATGCAACTAAAGTGGTAAATTTGCTTTGATTGTACTAGTACTTTAATTAATTAATTAATTTATTTATTTATTTAATTATTTACAAAGTGATATAAATTGTGCAATTATTTTATAAAAACAAAGTCGTTTAAATTGTGTCTGATGTTTTCTGTATTTTTGTGCTGCTTCATTCTTAGGCTGGAAAAGGAAAAGTCTCAGGCTCACGCTAAGGCTCAGGCAGAAGCTCAAGCCCAGGTAAAAGATGAGGTGAGCAGGATCCTCGCGTTAGAGAAATCTGGTGCAGAGGAGACCATCCAGAAGGCCATCCTGAGAGAAAGAGTCTCTGCTGAAGATGAAAGACTACAAGCTCAGATATATG[T/C]GAGTAAAAGAGCAAATGTAAAATTGCATGACTGTGTTTAGTGGAGATCAAAATTAGAGAACCACATGCAGATTCCGGCATTTTGAGGTCACTTCATGAGCCTTTTTTTAGGAGCATTTTTACTCTTCACAGGGGTTGTTGGTTTTACAGTCATCCAAATCCAGAAGGTTTGTATTTTTCTCTTATGACCCACATGAAAATTTATTTACCTGCTGTTTTTCAACACCAAGGTCGTGTGGTGATGTAATTGCCTTCGGAGCACGATTAATGTTAATTTGCATTAGAAATGTGTTTATTAAAAATGGACACTACAACACCAATGTGCTATAAATGTAGTGTCTGTGTACTGTTTATGTTTAGTAGCTGTCAAAATCTGACATTGTTTTAGTTTTTAGTTTTAATCCAATTGGCTGTTGCCATGGTGATCATGCCAGCATTGATGCCAATGCCTCATGTAAATCTAGCATAAGTTTGATTAGAGTTAGAGTTAAATTCTGCAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38434
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000041420 Essential Splice Site 212 316 7 11
ENSDART00000101634 Essential Splice Site 213 317 5 9
ENSDART00000122520 Essential Splice Site 213 317 5 9
ENSDART00000143317 None None 161 None 2
Genomic Location (Zv9):
Chromosome 4 (position 14596813)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 15532666
GRCz11 4 15531421
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCTCTCTCCCTTTCTTTCTGCTTCCTCACTCCAGCAGATGGAGAGAAAGG[T/A]AAGGCACAAGAGAGATTTGATTTATAAGTCCCATATCTGCCTCAACCTGC
Long Flanking Sequence:
GGGAAAATGAAAAAGTTACATTTTCTCTGGGATTATTAACACTTCTTAGTGACCTAGAAATCAAAGCAGACTTACCTGTGGGTATATATATAATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCCAGAGAAGTTCTTCAGCAGCGTGGCCTTCATGAGTGCTTGAGTTCAGCTCTGATGGAGATCGCTCTGCTCTGATTAGATTTAGATTAGATCAGATTTTCAGTTTATTGTGAAGATCTCTTTCTCACCTTGTGACAGTGTTTGATAACTGTGCTGCTACTGTGTTCATGCAGTACACCAACACTGCAGTCTGTGTGTGTGCGTGTGTGTTCCAGCTTTTGAATACTGAATGTAATTATAGGAACTTCATCGTTAAATAGCTGTTCTCTCTCTTTCTCTCTCCCTTTCTTTCTGCTTCCTCACTCCAGCAGATGGAGAGAAAGG[T/A]AAGGCACAAGAGAGATTTGATTTATAAGTCCCATATCTGCCTCAACCTGCTTCCTGCTGCAGTACTGCATGCCTAAATACACTGTACTCTCTCTCTCTCTCTCTCTTTCTCTCTCTGTGTGATTTACTGCAGAGTTTTTTTTTTTTCTCGTAATTTTTTTTTCATTGATGCCATCTTTTCTTTGGCGTTCTTTGTACACCAGCTTAGAAATAATTCTTCATTGCTGTTTTAATACTCTGCTACACAATTTAAACATGCAATGGGATGCTTTTTTCCTCGCAAAATAAATTAATCATGGCTGAATGGAAATTGCTGAATCTATAACAATCAGAGCTTCTGCATGGATGTTTTGTTACATCTGCAACTACCAGCACAACATAACATAAAATGTCCTTTTGTTATAGTTATGACAGTCAACTAAAACAAAATAACTATAGTAAAAAATAGAATATGTATAAATACAAAATAAAGCTATATTAAAAATGATTGATTTATGGGAA
Associated Phenotype:
Not determined