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 Estimate
sa20243 Essential Splice Site Available for shipment Available now
sa40260 Essential Splice Site Mutation detected in F1 DNA During 2016
sa38434 Essential Splice Site Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa20243
Current 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
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Mutation:
T > G
Consequence:
Essential Splice Site
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTTGAGTCGGATGAGAATGACAACATAACGATAGTGAAGGGCATCAGGG[T/G]GAGTGACACACACGTCTGTTCTCCTCCACCTGTCAAACGCACATCAAACT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40260
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > C
Consequence:
Essential Splice Site
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 161 None 2
Genomic Location (Zv9):
Chromosome 4 (position 14633656)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 15569509
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAGAGAAAGAGTCTCTGCTGAAGATGAAAGACTACAAGCTCAGATATATG[T/C]GAGTAAAAGAGCAAATGTAAAATTGCATGACTGTGTTTAGTGGAGATCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38434
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Essential Splice Site
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 161 None 2
Genomic Location (Zv9):
Chromosome 4 (position 14596813)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 15532666
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTCTCTCCCTTTCTTTCTGCTTCCTCACTCCAGCAGATGGAGAGAAAGG[T/A]AAGGCACAAGAGAGATTTGATTTATAAGTCCCATATCTGCCTCAACCTGC
Associated Phenotype:
Not determined

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