Nsd3 MGI Mouse Gene Detail - MGI:2142581 - nuclear receptor binding SET domain protein 3

Symbol

Nsd3
Name

nuclear receptor binding SET domain protein 3
Synonyms

WHISTLE, Whsc1l1

Feature Type

protein coding gene
IDs

MGI:2142581
NCBI Gene: 234135
Alliance

gene page
Transcription Start Sites

16 TSS

Sequence Map

Chr8:26091617-26209694 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 8, 14.17 cM
Mapping Data

1 experiment

SNPs within 2kb

2256 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2142581	protein coding gene	Chr8:26091617-26209694 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033483	protein coding gene	Chr8:23654798-23786487 (+)
A/J	MGP_AJ_G0033463	protein coding gene	Chr8:22802512-22922483 (+)
AKR/J	MGP_AKRJ_G0033388	protein coding gene	Chr8:23549682-23679382 (+)
BALB/cJ	MGP_BALBcJ_G0033459	protein coding gene	Chr8:22950114-23068917 (+)
C3H/HeJ	MGP_C3HHeJ_G0033173	protein coding gene	Chr8:23770228-23892230 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033975	protein coding gene	Chr8:24617254-24752563 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030925	protein coding gene	Chr8:20073120-20192585 (+)
CAST/EiJ	MGP_CASTEiJ_G0032499	protein coding gene	Chr8:23209298-23341186 (+)
CBA/J	MGP_CBAJ_G0033148	protein coding gene	Chr8:25577251-25720478 (+)
DBA/2J	MGP_DBA2J_G0033303	protein coding gene	Chr8:22774795-22893249 (+)
FVB/NJ	MGP_FVBNJ_G0033247	protein coding gene	Chr8:22581815-22699766 (+)
LP/J	MGP_LPJ_G0033392	protein coding gene	Chr8:23642542-23764411 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033290	protein coding gene	Chr8:25035268-25175220 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033994	protein coding gene	Chr8:23491138-23613893 (+)
PWK/PhJ	MGP_PWKPhJ_G0032210	protein coding gene	Chr8:22411257-22534759 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0032044	protein coding gene	Chr8:22856131-22983909 (+)
WSB/EiJ	MGP_WSBEiJ_G0032615	protein coding gene	Chr8:23711290-23833373 (+)

Human Ortholog

NSD3, nuclear receptor binding SET domain protein 3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

NSD3, nuclear receptor binding SET domain protein 3
Synonyms

KMT3F, KMT3G, pp14328, WHISTLE, WHSC1L1
Links

HGNC:12767

NCBI Gene ID: 54904

neXtProt AC: NX_Q9BZ95

UniProt: Q9BZ95
Chr Location

8p11.23; chr8:38269704-38382272 (-) GRCh38

MGI Vertebrate Homology

Nsd3 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: NSD3
Gene Tree

Nsd3

Diseases

1 with human NSD3 associations

				Human Disease	Mouse Models
				myeloid leukemia IDs myeloid leukemia DOID:8692 DOID:8878 DOID:8879 DOID:8910 DOID:9066 DOID:9126 ICD10CM:C92 ICD9CM:205 ICD9CM:205.9 MESH:D007951 NCI:C3172 UMLS_CUI:C0023470

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 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

14
Endonuclease-mediated

3
Gene trapped

5
Targeted

6
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

69 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Null mice show partial preweaning lethality, small spleen, abnormal snout, increased startle reflex and decreased exploration. Mice in which conditional deletion occurs in macrophages show increased susceptibility to vesicular stomatitis virus.

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All GO Annotations

28
GO References

9

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

785
Tissues

55
cDNA Data

18
Literature Summary

2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase nsd3

ZFIN nsd3

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All Sequences

71
RefSeq

8
UniProt

4
CCDS

CCDS40305.1, CCDS52528.1, CCDS85518.1

Ensembl

ENSMUSG00000054823 (Evidence)
NCBI Gene

234135

			Length	Strain/Species	Flank
genomic	234135	NCBI Gene Model \| MGI Sequence Detail	118078	C57BL/6J	± kb
transcript	NM_001081269	RefSeq \| MGI Sequence Detail	9652	C57BL/6
polypeptide	Q6P2L6	UniProt \| EBI \| MGI Sequence Detail	1439	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000017418 histone-lysine N-methyltransferase NSD3

(term hierarchy)
EC

2.1.1.370, 2.1.1.371
InterPro Domains

IPR006560 AWS domain

IPR047527 Histone-lysine N-methyltransferase NSD3, fifth PHD finger

IPR047451 Histone-lysine N-methyltransferase NSD3, first PWWP domain

IPR047458 Histone-lysine N-methyltransferase NSD3, fourth PHD finger

IPR047456 Histone-lysine N-methyltransferase NSD3, second PHD finger

IPR047453 Histone-lysine N-methyltransferase NSD3, second PWWP domain

IPR047461 Histone-lysine N-methyltransferase NSD3, SET domain

IPR041306 NSD, Cys-His rich domain

IPR003616 Post-SET domain

IPR000313 PWWP domain

IPR050777 SET2 Histone-Lysine N-Methyltransferase

IPR001214 SET domain

IPR046341 SET domain superfamily

IPR011011 Zinc finger, FYVE/PHD-type

IPR019787 Zinc finger, PHD-finger

IPR001965 Zinc finger, PHD-type

IPR019786 Zinc finger, PHD-type, conserved site

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

Q6P2L6 1 site, 1 N-linked glycan (1 site)

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All nucleic 18

cDNA 18

Microarray probesets 9

Summaries

All 48

Developmental Gene Expression 2

Gene Ontology 9

Phenotypes 15
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Nsd3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr76688	Chr8:26091482-26091493 (+)	-129 bp
Tssr76689	Chr8:26091503-26091513 (+)	-109 bp
Tssr76690	Chr8:26091521-26091532 (+)	-90 bp
Tssr76691	Chr8:26091578-26091590 (+)	-33 bp
Tssr76692	Chr8:26091607-26091623 (+)	-2 bp
Tssr76693	Chr8:26091633-26091686 (+)	43 bp
Tssr76694	Chr8:26091710-26091719 (+)	98 bp
Tssr76695	Chr8:26092252-26092331 (+)	675 bp
Tssr76696	Chr8:26092479-26092488 (+)	867 bp
Tssr76697	Chr8:26130721-26130744 (+)	39,116 bp
Tssr76698	Chr8:26130749-26130857 (+)	39,186 bp
Tssr76699	Chr8:26130917-26130964 (+)	39,324 bp
Tssr76700	Chr8:26133955-26133963 (+)	42,342 bp
Tssr76701	Chr8:26139413-26139431 (+)	47,805 bp
Tssr76702	Chr8:26163995-26164007 (+)	72,384 bp
Tssr76705	Chr8:26206599-26206611 (+)	114,988 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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