dnmt6

Ensembl ID:
ENSDARG00000015566
ZFIN ID:
ZDB-GENE-050314-3
Description:
DNA (cytosine-5)-methyltransferase 3A [Source:RefSeq peptide;Acc:NP_001018150]
Human Orthologues:
DNMT3A, DNMT3L
Human Descriptions:
DNA (cytosine-5-)-methyltransferase 3 alpha [Source:HGNC Symbol;Acc:2978]
DNA (cytosine-5-)-methyltransferase 3-like [Source:HGNC Symbol;Acc:2980]
Mouse Orthologues:
Dnmt3a, Dnmt3l
Mouse Descriptions:
DNA (cytosine-5-)-methyltransferase 3-like Gene [Source:MGI Symbol;Acc:MGI:1859287]
DNA methyltransferase 3A Gene [Source:MGI Symbol;Acc:MGI:1261827]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa45614 Nonsense Mutation detected in F1 DNA During 2018
sa36471 Essential Splice Site Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa45614
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 2018.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000005239 Nonsense 401 731 10 18
ENSDART00000126823 Nonsense 401 731 10 18
ENSDART00000127557 Nonsense 648 978 14 22
Genomic Location (Zv9):
Chromosome 17 (position 37124475)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 37009372
GRCz11 17 36956957
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTCCTGGTGCGGCGCAGGCAGCTATTAAAGAAGACCCATGGAATTGCTA[T/A]ATGTGTGGACTGAAGACTCAGTATGGCCTGTTGGAGCGCCGGGCTGATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36471
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 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000005239 Essential Splice Site 591 731 14 18
ENSDART00000126823 Essential Splice Site 591 731 14 18
ENSDART00000127557 Essential Splice Site 838 978 18 22
Genomic Location (Zv9):
Chromosome 17 (position 37114629)
Other Location(s):
Assembly Chromosome Position
GRCz10 17 36999526
GRCz11 17 36947111
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GGTGGCCATGGGCGTCAGCGACAAAAGGGACATCTCTCGCTTTTTAGAGG[T/C]TTACAGCGATTGATATCATTATTTTTGTTCTGGTTGAGATGAAATTGTAC
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Crohn's disease: Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (View Study)
  • Height: Many sequence variants affecting diversity of adult human height. (View Study)
  • Type 1 diabetes: A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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