Dot1l MGI Mouse Gene Detail - MGI:2143886 - DOT1 like histone lysine methyltransferase

Symbol

Dot1l
Name

DOT1 like histone lysine methyltransferase
Synonyms

KMT4, mDot1

Feature Type

protein coding gene
IDs

MGI:2143886
NCBI Gene: 208266
Alliance

genome feature page
Transcription Start Sites

8 TSS

Sequence Map

Chr10:80591040-80631295 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

1 experiment

SNPs within 2kb

706 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2143886	protein coding gene	Chr10:80590935-80631295 (+)
129S1/SvImJ	ENSMUSG00200043491	protein coding gene	Chr10:77217324-77257583 (+)
A/J	ENSMUSG00195041754	protein coding gene	Chr10:77612896-77653152 (+)
AKR/J	ENSMUSG00220047504	protein coding gene	Chr10:77210589-77250845 (+)
BALB/cJ	ENSMUSG00180047092	protein coding gene	Chr10:77623367-77663625 (+)
C3H/HeJ	ENSMUSG00175046594	protein coding gene	Chr10:77494117-77534374 (+)
C57BL/6NJ	ENSMUSG00215051963	protein coding gene	Chr10:77235977-77276232 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015600	protein coding gene	Chr10:74755579-74796233 (+)
CAST/EiJ	ENSTCUG00005047502	protein coding gene	Chr10:77121627-77162145 (+)
CBA/J	ENSMUSG00210045162	protein coding gene	Chr10:77350154-77390411 (+)
DBA/2J	ENSMUSG00185050186	protein coding gene	Chr10:77692582-77732839 (+)
FVB/NJ	ENSMUSG00205044240	protein coding gene	Chr10:77405379-77445639 (+)
JF1/MsJ	ENSUMUG00000052984	protein coding gene	Chr10:78923418-78964149 (+)
LP/J	ENSMUSG00230050040	protein coding gene	Chr10:79462215-79502471 (+)
NOD/ShiLtJ	ENSMUSG00190049730	protein coding gene	Chr10:77606304-77646561 (+)
NZO/HlLtJ	ENSMUSG00225050889	protein coding gene	Chr10:83748710-83788965 (+)
PWK/PhJ	ENSLUMG00010038510	protein coding gene	Chr10:77284020-77324507 (+)
SPRET/EiJ	ENSMSPG00010042400	protein coding gene	Chr10:78900421-78940442 (+)
WSB/EiJ	ENSIUOG00005044277	protein coding gene	Chr10:77310069-77350303 (+)

Human Ortholog

DOT1L, DOT1 like histone lysine methyltransferase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

DOT1L, DOT1 like histone lysine methyltransferase
Synonyms

DOT1, KMT4, NDNS
Links

HGNC:24948

NCBI Gene ID: 84444

UniProt: Q8TEK3
Chr Location

19p13.3; chr19:2163933-2232578 (+) GRCh38

MGI Vertebrate Homology

Dot1l stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: DOT1L
Protein SuperFamily

Histone_H3-K79_MeTrfase_met
Gene Tree

Dot1l

Diseases

1 with Dot1l mouse models; 2 with human DOT1L associations

Human Disease

Mouse Models

dilated cardiomyopathy 1A

IDs

View 1 model

acute biphenotypic leukemia

IDs

Nil-Deshwar neurodevelopmental syndrome

IDs

Click on a disease name to see all genes associated with that disease.

Mutations/Alleles

2 with disease annotations

References

1 with disease annotations

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Phenotype Summary

49 phenotypes from 9 alleles in 8 genetic backgrounds
76 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

58
Chemically induced (other)

1
Endonuclease-mediated

9
Gene trapped

33
Targeted

15
Genomic Mutations

1 involving Dot1l
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

75 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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All GO Annotations

43
GO References

13

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

723
Tissues

116
cDNA Data

11
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase dot1l

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All Sequences

77
RefSeq

16
UniProt

11
CCDS

CCDS35985.1

Ensembl

ENSMUSG00000061589 (Evidence)
NCBI Gene

208266

			Length	Strain/Species	Flank
genomic	ENSMUSG00000061589	Ensembl Gene Model \| MGI Sequence Detail	40256	C57BL/6J	± kb
transcript	ENSMUST00000105336	Ensembl \| MGI Sequence Detail	6808	Not Applicable
polypeptide	ENSMUSP00000100973	Ensembl \| MGI Sequence Detail	1540	Not Applicable

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UniProt

11 Sequences
Protein Ontology

PR:000006642 histone-lysine N-methyltransferase, H3 lysine-79 specific

(term hierarchy)
EC

2.1.1.360
InterPro Domains

IPR030445 Histone H3-K79 methyltransferase

IPR021169 Histone H3-K79 methyltransferase, metazoa

IPR025789 Histone-lysine N-methyltransferase DOT1 domain

IPR029063 S-adenosyl-L-methionine-dependent methyltransferase superfamily
GlyGen

Q6XZL8 3 sites, 1 O-linked glycan (2 sites)

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All nucleic 14

cDNA 11

Primer pair 3

Antibodies 2

Microarray probesets 2

Summaries

All 133

Developmental Gene Expression 15

Diseases 1

Gene Ontology 13

Phenotypes 76
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:379715 Subramani PG, et al., DOT1L activity limits transcription elongation velocity and favors RNAPII pausing to facilitate mutagenesis by AID. Nat Commun. 2026 Jan 12;17(1):1623

TSS for Dot1l:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94598	Chr10:80590957-80590966 (+)	-78 bp
Tssr94599	Chr10:80591030-80591073 (+)	12 bp
Tssr94600	Chr10:80591074-80591085 (+)	40 bp
Tssr94601	Chr10:80591126-80591137 (+)	92 bp
Tssr94602	Chr10:80591224-80591233 (+)	189 bp
Tssr94603	Chr10:80599717-80599723 (+)	8,680 bp
Tssr94604	Chr10:80601490-80601494 (+)	10,452 bp
Tssr94605	Chr10:80616643-80616647 (+)	25,605 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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