Ash1l MGI Mouse Gene Detail - MGI:2183158 - ASH1 like histone lysine methyltransferase

Symbol

Ash1l
Name

ASH1 like histone lysine methyltransferase
Synonyms

8030453L17Rik, chromatin remodeling factor, E430018P19Rik, KMT2H

Feature Type

protein coding gene
IDs

MGI:2183158
NCBI Gene: 192195
Alliance

genome feature page
Transcription Start Sites

11 TSS

Sequence Map

Chr3:88857929-88986682 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 39.01 cM
Mapping Data

3 experiments

SNPs within 2kb

2169 from dbSNP Build 142
Strain Annotations

19

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2183158	protein coding gene	Chr3:88857721-88986682 (+)
129S1/SvImJ	ENSMUSG00200037365	protein coding gene	Chr3:85712869-85841646 (+)
A/J	ENSMUSG00195051973	protein coding gene	Chr3:85728052-85856958 (+)
AKR/J	ENSMUSG00220050227	protein coding gene	Chr3:85682684-85811511 (+)
BALB/cJ	ENSMUSG00180041986	protein coding gene	Chr3:85809792-85938447 (+)
C3H/HeJ	ENSMUSG00175037702	protein coding gene	Chr3:85660787-85789599 (+)
C57BL/6NJ	ENSMUSG00215049102	protein coding gene	Chr3:86100622-86229390 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025183	protein coding gene	Chr3:81675455-81805726 (+)
CAST/EiJ	ENSTCUG00005047600	protein coding gene	Chr3:85180636-85305330 (+)
CBA/J	ENSMUSG00210039308	protein coding gene	Chr3:85798462-85927263 (+)
DBA/2J	ENSMUSG00185050469	protein coding gene	Chr3:85898326-86026979 (+)
FVB/NJ	ENSMUSG00205049014	protein coding gene	Chr3:84722411-84851200 (+)
JF1/MsJ	ENSUMUG00000017412	protein coding gene	Chr3:85513268-85637940 (+)
LP/J	ENSMUSG00230027368	protein coding gene	Chr3:87934225-88062983 (+)
NOD/ShiLtJ	ENSMUSG00190044452	protein coding gene	Chr3:86183094-86311872 (+)
NZO/HlLtJ	ENSMUSG00225006498	protein coding gene	Chr3:90689747-90818573 (+)
PWK/PhJ	ENSLUMG00010045819	protein coding gene	Chr3:85554853-85679534 (+)
SPRET/EiJ	ENSMSPG00010047193	protein coding gene	Chr3:86406537-86536629 (+)
WSB/EiJ	ENSIUOG00005047388	protein coding gene	Chr3:86204182-86332928 (+)

Human Ortholog

ASH1L, ASH1 like histone lysine methyltransferase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ASH1L, ASH1 like histone lysine methyltransferase
Synonyms

ASH1, ASH1L1, KMT2H, MRD52
Links

HGNC:19088

NCBI Gene ID: 55870

UniProt: Q9NR48
Chr Location

1q22; chr1:155335268-155563202 (-) GRCh38

MGI Vertebrate Homology

Ash1l stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ASH1L
Gene Tree

Ash1l

Diseases

1 with human ASH1L associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 52 IDs autosomal dominant intellectual developmental disorder 52 DOID:0080231 OMIM:617796

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

References

1 with disease annotations

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Phenotype Summary

49 phenotypes from 3 alleles in 3 genetic backgrounds
2 phenotypes from multigenic genotypes
29 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

31
Chemically induced (other)

1
Endonuclease-mediated

9
Gene trapped

14
Radiation induced

1
Targeted

5
Transposon induced

1
Genomic Mutations

2 involving Ash1l
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

140 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a transposon-induced allele are more susceptible to endotoxin shock, sepsis, and autoimmune disease. Homozygotes for a hypomorphic allele show reduced growth and postnatal lethality; surviving adults lack Meibomian glands and show vertebral, reproductive organ, and fertility defects.

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All GO Annotations

56
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

742
Tissues

126
cDNA Data

121
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ASH1L

Xenbase ash1l

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All Sequences

68
RefSeq

18
UniProt

1
CCDS

CCDS17487.1

Ensembl

ENSMUSG00000028053 (Evidence)
NCBI Gene

192195

			Length	Strain/Species	Flank
genomic	ENSMUSG00000028053	Ensembl Gene Model \| MGI Sequence Detail	128754	C57BL/6J	± kb
transcript	ENSMUST00000186583	Ensembl \| MGI Sequence Detail	11644	Not Applicable
polypeptide	ENSMUSP00000140251	Ensembl \| MGI Sequence Detail	2958	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000030913 histone-lysine N-methyltransferase ASH1L

(term hierarchy)
EC

2.1.1.359, 2.1.1.367
InterPro Domains

IPR043320 ASH1-like, Bromodomain

IPR043319 ASH1-like, PHD finger

IPR017956 AT hook, DNA-binding motif

IPR006560 AWS domain

IPR001025 Bromo adjacent homology (BAH) domain

IPR043151 Bromo adjacent homology (BAH) domain superfamily

IPR001487 Bromodomain

IPR036427 Bromodomain-like superfamily

IPR003616 Post-SET domain

IPR063694 SET-binding protein/ASH1L

IPR001214 SET domain

IPR046341 SET domain superfamily

IPR011011 Zinc finger, FYVE/PHD-type

IPR001965 Zinc finger, PHD-type

IPR019786 Zinc finger, PHD-type, conserved site

IPR013083 Zinc finger, RING/FYVE/PHD-type
GlyGen

Q99MY8 1 site, 1 O-linked glycan (1 site)

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All nucleic 123

cDNA 121

Primer pair 2

Antibodies 1

Microarray probesets 6

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MGI:2442216, MGI:2444414

Summaries

All 71

Developmental Gene Expression 9

Diseases 1

Gene Ontology 13

Phenotypes 29
Earliest

J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
Latest

J:389441 Schwarz LA, et al., Cortical development dynamics across autism spectrum disorder mouse models. Nature. 2026 Jun 17;

TSS for Ash1l:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr30023	Chr3:88857338-88857389 (+)	-565 bp
Tssr30024	Chr3:88857657-88857702 (+)	-249 bp
Tssr30025	Chr3:88857736-88857753 (+)	-184 bp
Tssr30026	Chr3:88857945-88857975 (+)	31 bp
Tssr30027	Chr3:88857978-88857999 (+)	60 bp
Tssr30028	Chr3:88858008-88858056 (+)	103 bp
Tssr30029	Chr3:88858095-88858159 (+)	198 bp
Tssr30030	Chr3:88858166-88858179 (+)	244 bp
Tssr30031	Chr3:88878024-88878028 (+)	20,097 bp
Tssr30032	Chr3:88892183-88892225 (+)	34,275 bp
Tssr30033	Chr3:88950548-88950585 (+)	92,638 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 09/01/2026 MGI 6.24