Actn3 MGI Mouse Gene Detail - MGI:99678

Symbol

Actn3
Name

actinin alpha 3

Feature Type

protein coding gene
IDs

MGI:99678
NCBI Gene: 11474
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr19:4911244-4927937 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.12 cM
Mapping Data

2 experiments

SNPs within 2kb

548 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_99678	protein coding gene	Chr19:4911244-4927937 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0024678	protein coding gene	Chr19:1762539-1785936 (-)
A/J	MGP_AJ_G0024644	protein coding gene	Chr19:1680669-1697112 (-)
AKR/J	MGP_AKRJ_G0024617	protein coding gene	Chr19:1727171-1743413 (-)
BALB/cJ	MGP_BALBcJ_G0024644	protein coding gene	Chr19:1673119-1690391 (-)
C3H/HeJ	MGP_C3HHeJ_G0024412	protein coding gene	Chr19:1728032-1745124 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0025091	protein coding gene	Chr19:1816927-1841853 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022521	protein coding gene	Chr19:1611678-1628262 (-)
CAST/EiJ	MGP_CASTEiJ_G0023884	protein coding gene	Chr19:1751082-1771452 (-)
CBA/J	MGP_CBAJ_G0024383	protein coding gene	Chr19:1893530-1916125 (-)
DBA/2J	MGP_DBA2J_G0024511	protein coding gene	Chr19:1646677-1663808 (-)
FVB/NJ	MGP_FVBNJ_G0024478	protein coding gene	Chr19:1668278-1684944 (-)
LP/J	MGP_LPJ_G0024597	protein coding gene	Chr19:1771915-1790069 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024508	protein coding gene	Chr19:1796247-1817028 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025139	protein coding gene	Chr19:1718446-1738517 (-)
PWK/PhJ	MGP_PWKPhJ_G0023630	protein coding gene	Chr19:1695055-1712558 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0023435	protein coding gene	Chr19:1711350-1727495 (-)
WSB/EiJ	MGP_WSBEiJ_G0023946	protein coding gene	Chr19:1719148-1745901 (-)

Human Ortholog

ACTN3, actinin alpha 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ACTN3, actinin alpha 3
Synonyms

ACTN3D
Links

HGNC:165

NCBI Gene ID: 89

neXtProt AC: NX_Q08043

UniProt: Q08043
Chr Location

11q13.2; chr11:66546395-66563334 (+) GRCh38

MGI Vertebrate Homology

Actn3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ACTN3
Gene Tree

Actn3

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Phenotype Summary

3 phenotypes from 1 allele in 1 genetic background
21 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

16
Endonuclease-mediated

1
Gene trapped

13
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

48 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit an increase mitochondria density and a shift from anaerobic to aerobic metabolism in fast muscle fiber that is associated with increased aerobic capacity.

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All GO Annotations

40
GO References

18

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

773
Tissues

13
cDNA Data

28
Literature Summary

13

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase actn3

ZFIN actn3a, actn3b

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All Sequences

35
RefSeq

2
UniProt

2
CCDS

CCDS29441.1

Ensembl

ENSMUSG00000006457 (Evidence)
NCBI Gene

11474

			Length	Strain/Species	Flank
genomic	11474	NCBI Gene Model \| MGI Sequence Detail	16694	C57BL/6J	± kb
transcript	NM_013456	RefSeq \| MGI Sequence Detail	2887	ZRU/MplStud
polypeptide	O88990	UniProt \| EBI \| MGI Sequence Detail	900	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000003690 alpha-actinin-3

(term hierarchy)
InterPro Domains

IPR001589 Actinin-type actin-binding domain, conserved site

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR014837 EF-hand, Ca insensitive

IPR002048 EF-hand domain

IPR011992 EF-hand domain pair

IPR018159 Spectrin/alpha-actinin

IPR002017 Spectrin repeat
GlyGen

O88990 3 sites, 1 O-linked glycan (3 sites)

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All nucleic 33

cDNA 28

Primer pair 4

Other 1

Microarray probesets 4

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MGD-MRK-16463

Summaries

All 74

Developmental Gene Expression 13

Gene Ontology 18

Phenotypes 21
Earliest

J:32589 Schiaffino S, et al., Molecular diversity of myofibrillar proteins: gene regulation and functional significance. Physiol Rev. 1996 Apr;76(2):371-423
Latest

J:338268 Dos Santos M, et al., Opposing gene regulatory programs governing myofiber development and maturation revealed at single nucleus resolution. Nat Commun. 2023 Jul 19;14(1):4333

TSS for Actn3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr157527	Chr19:4929242-4929270 (-)	-1,319 bp
Tssr157526	Chr19:4927910-4927927 (-)	18 bp
Tssr157525	Chr19:4926944-4926957 (-)	986 bp
Tssr157524	Chr19:4926898-4926908 (-)	1,034 bp
Tssr157523	Chr19:4922377-4922388 (-)	5,554 bp
Tssr157522	Chr19:4919433-4919477 (-)	8,482 bp
Tssr157521	Chr19:4918056-4918063 (-)	9,877 bp
Tssr157520	Chr19:4918016-4918026 (-)	9,916 bp
Tssr157519	Chr19:4914048-4914090 (-)	13,868 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 11/12/2024 MGI 6.24