Kmt5b MGI Mouse Gene Detail - MGI:2444557 - lysine methyltransferase 5B

Symbol

Kmt5b
Name

lysine methyltransferase 5B
Synonyms

C630029K18Rik, Suv4-20h1, Suv420h1

Feature Type

protein coding gene
IDs

MGI:2444557
NCBI Gene: 225888
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr19:3817421-3868303 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 3.50 cM
Mapping Data

2 experiments

SNPs within 2kb

1049 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2444557	protein coding gene	Chr19:3816436-3868303 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024629	protein coding gene	Chr19:552198-608455 (+)
A/J	MGP_AJ_G0024596	protein coding gene	Chr19:540880-592217 (+)
AKR/J	MGP_AKRJ_G0024567	protein coding gene	Chr19:545283-596110 (+)
BALB/cJ	MGP_BALBcJ_G0024594	protein coding gene	Chr19:528086-580395 (+)
C3H/HeJ	MGP_C3HHeJ_G0024363	protein coding gene	Chr19:543754-594788 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025042	protein coding gene	Chr19:546973-605065 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022471	protein coding gene	Chr19:511330-561313 (+)
CAST/EiJ	MGP_CASTEiJ_G0023835	protein coding gene	Chr19:554826-608019 (+)
CBA/J	MGP_CBAJ_G0024333	protein coding gene	Chr19:612899-672738 (+)
DBA/2J	MGP_DBA2J_G0024462	protein coding gene	Chr19:519239-570234 (+)
FVB/NJ	MGP_FVBNJ_G0024429	protein coding gene	Chr19:526167-578628 (+)
LP/J	MGP_LPJ_G0024548	protein coding gene	Chr19:556248-610053 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024459	protein coding gene	Chr19:582504-648604 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025090	protein coding gene	Chr19:542038-596311 (+)
PWK/PhJ	MGP_PWKPhJ_G0023581	protein coding gene	Chr19:540167-591571 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023387	protein coding gene	Chr19:553707-604567 (+)
WSB/EiJ	MGP_WSBEiJ_G0023898	protein coding gene	Chr19:539102-592482 (+)

Human Ortholog

KMT5B, lysine methyltransferase 5B

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

KMT5B, lysine methyltransferase 5B
Synonyms

CGI-85, CGI85, MRD51, SUV420H1
Links

HGNC:24283

NCBI Gene ID: 51111

neXtProt AC: NX_Q4FZB7

UniProt: Q4FZB7
Chr Location

11q13.2; chr11:68154863-68213852 (-) GRCh38

MGI Vertebrate Homology

Kmt5b stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: KMT5B
Gene Tree

Kmt5b

Diseases

1 with human KMT5B associations

				Human Disease	Mouse Models
				autosomal dominant intellectual developmental disorder 51 IDs autosomal dominant intellectual developmental disorder 51 DOID:0080232 OMIM:617788

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

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Phenotype Summary

12 phenotypes from 2 alleles in 2 genetic backgrounds
15 phenotypes from multigenic genotypes
1 images
23 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

23
Endonuclease-mediated

1
Gene trapped

16
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

43 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele are born at sub-Mendelian ratios, are smaller than control littermates, and die within a few hours of birth, probably due to alveolar defects.

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All GO Annotations

26
GO References

11

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

838
Tissues

123
cDNA Data

20
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase kmt5b

ZFIN kmt5b

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All Sequences

144
RefSeq

56
UniProt

7
CCDS

CCDS29399.1, CCDS50343.1, CCDS50344.1, CCDS50345.1

Ensembl

ENSMUSG00000045098 (Evidence)
NCBI Gene

225888

			Length	Strain/Species	Flank
genomic	ENSMUSG00000045098	Ensembl Gene Model \| MGI Sequence Detail	50883	C57BL/6J	± kb
transcript	ENSMUST00000113973	Ensembl \| MGI Sequence Detail	6130	Not Applicable
polypeptide	ENSMUSP00000109606	Ensembl \| MGI Sequence Detail	883	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000015846 histone-lysine N-methyltransferase KMT5B

(term hierarchy)
PDB

4BUP
EC

2.1.1.361, 2.1.1.362
InterPro Domains

IPR041938 Histone-lysine N-methyltransferase, N-terminal domain

IPR039977 Histone-lysine N-methyltransferase Suv4-20/Set9

IPR044424 KMT5B , SET domain

IPR001214 SET domain

IPR046341 SET domain superfamily

IPR025790 Suv4-20 family, animal

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All nucleic 21

cDNA 21

Microarray probesets 8

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MGI:3034400

Summaries

All 63

Developmental Gene Expression 9

Gene Ontology 11

Phenotypes 23
Earliest

J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
Latest

J:350444 Martinez-Mayer J, et al., Knockout mice with pituitary malformations help identify human cases of hypopituitarism. Genome Med. 2024 May 31;16(1):75

TSS for Kmt5b:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154187	Chr19:3817361-3817384 (+)	-48 bp
Tssr154188	Chr19:3817397-3817425 (+)	-10 bp
Tssr154189	Chr19:3817867-3817921 (+)	473 bp
Tssr154190	Chr19:3817953-3817970 (+)	541 bp
Tssr154191	Chr19:3818112-3818207 (+)	739 bp
Tssr154192	Chr19:3819104-3819112 (+)	1,687 bp
Tssr154193	Chr19:3837367-3837373 (+)	19,949 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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