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 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Protein SuperFamily: Histone_H3-K79_MeTrfase_met
Gene Tree: Dot1l

Human homologs

Human Homolog		DOT1L, DOT1-like, histone H3 methyltransferase (S. cerevisiae)
NCBI Gene ID		84444
neXtProt AC		NX_Q8TEK3
Human Synonyms		DOT1, KMT4
Human Chr (Location)		19p13.3; chr19:2164148-2232577 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(51) : Targeted(11) Gene trapped(40)
 

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 Using Mouse Dot1l (1)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (11 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)
Theiler Stages: 11, 15, 17, 19, 20, 22

Assay Type	Results
RNA in situ	94
In situ reporter (knock in)	13

cDNA source data(8)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(9) cDNA(8) 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
Consensus CDS Project	CCDS35985.1
International Mouse Knockout Project Status	Dot1l

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017289	VEGA Gene Model | MGI Sequence Detail	40256	C57BL/6J
transcript	OTTMUST00000041909	VEGA | MGI Sequence Detail	6808	Not Applicable
polypeptide	OTTMUSP00000018849	VEGA | MGI Sequence Detail	1540	Not Applicable

All sequences(67) RefSeq(2) UniProt(11)

Polymorphisms

SNPs(76 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR017956	AT hook, DNA-binding motif
InterPro	IPR025789	Histone H3-K79 methyltransferase
InterPro	IPR021169	Histone H3-K79 methyltransferase, metazoa
InterPro	IPR013110	Histone methylation DOT1

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:195875 Wu H, et al., Aqp5 is a new transcriptional target of Dot1a and a regulator of Aqp2. PLoS One. 2013;8(1):e53342
All references(49)