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Dot1l
Gene Detail
Symbol

Name
ID
Dot1l
DOT1-like, histone H3 methyltransferase (S. cerevisiae)
MGI:2143886
Synonyms
KMT4, mDot1
Feature Type
protein coding gene
Genetic Map
Chromosome 10
39.72 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
Chr10:80755206-80795461 bp, + strand
From VEGA annotation of GRCm38

  40256 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:32779  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: DOT1L
Protein SuperFamily: Histone_H3-K79_MeTrfase_met
Gene Tree: Dot1l

Human
homologs
DOT1L, DOT1-like histone H3K79 methyltransferase
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 84444
neXtProt AC: NX_Q8TEK3

Human Synonyms: DOT1, KMT4

Human Chr (Location): 19p13.3; chr19:2164127-2232578 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(51) : Gene trapped(40) Targeted(11)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for a gene trap allele show late embryonic lethality. Mice homozygous for a null allele die by E10.5 displaying a growth arrest, abnormal yolk sac angiogenesis and heart dilation while mutant ES cells show elevated apoptosis, G2 cell cycle arrest, telomere elongation and aneuploidy.
 
Human Diseases Modeled in Mice Using Dot1l (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Dot1l interacts with 401 markers (Mir1a-1, Mir1a-2, Mir9-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (7 annotations)
Process histone lysine methylation, histone methylation, ...
Function histone-lysine N-methyltransferase activity, histone methyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (107)    Tissues (107)    Images (3)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 94
In situ reporter (knock in) 13
cDNA source data(9)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase dot1l    NEW 
Molecular
reagents
All nucleic(10) cDNA(9) Primer pair(1)
Microarray probesets(2)
Other database
links
VEGA Gene Model OTTMUSG00000017289 (Evidence)
Ensembl Gene Model ENSMUSG00000061589 (Evidence)
Entrez Gene 208266 (Evidence)
DFCI TC1579770, TC1596522, TC1603030, TC1636508
DoTS DT.101253226, DT.101372229, DT.488425, DT.527935, DT.91355208, DT.91556372
NIA Mouse Gene Index U011760, U043091
EC 2.1.1.43
Consensus CDS Project CCDS35985.1
International Mouse Phenotyping Consortium Status Dot1l
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017289 VEGA Gene Model | MGI Sequence Detail 40256 C57BL/6J ±  kb
transcript OTTMUST00000041909 VEGA | MGI Sequence Detail 6808 Not Applicable 
polypeptide OTTMUSP00000018849 VEGA | MGI Sequence Detail 1540 Not Applicable 

For the selected sequences
All sequences(81) RefSeq(15) UniProt(11)
Polymorphisms
SNPs within 2kb(85 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017956 AT hook, DNA-binding motif
InterPro IPR030445 Histone H3-K79 methyltransferase
InterPro IPR021169 Histone H3-K79 methyltransferase, metazoa
InterPro IPR025789 Histone-lysine N-methyltransferase DOT1 domain
InterPro IPR013110 Histone methylation DOT1
InterPro IPR029063 S-adenosyl-L-methionine-dependent methyltransferase
References
(Earliest) J:85162 Hansen J, et al., A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9918-22
(Latest) J:214397 Alpatov R, et al., A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response. Cell. 2014 May 8;157(4):869-81
All references(52)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory