Speg MGI Mouse Gene Detail - MGI:109282

Symbol

Speg
Name

SPEG complex locus
Synonyms

Apeg1, BPEG, D1Bwg1450e, mKIAA1297, SPEG, SPEGalpha, SPEGbeta

Feature Type

protein coding gene
IDs

MGI:109282
NCBI Gene: 11790
Alliance

gene page
Transcription Start Sites

11 TSS

Sequence Map

Chr1:75351941-75408964 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 38.88 cM
Mapping Data

3 experiments

SNPs within 2kb

1413 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109282	protein coding gene	Chr1:75351931-75408964 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016186	protein coding gene	Chr1:75943145-76004986 (+)
A/J	MGP_AJ_G0016169	protein coding gene	Chr1:73297916-73355415 (+)
AKR/J	MGP_AKRJ_G0016126	protein coding gene	Chr1:75330156-75391271 (+)
BALB/cJ	MGP_BALBcJ_G0016124	protein coding gene	Chr1:73360543-73418684 (+)
C3H/HeJ	MGP_C3HHeJ_G0015955	protein coding gene	Chr1:75664169-75721717 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016577	protein coding gene	Chr1:78896319-78954320 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014298	protein coding gene	Chr1:68857473-68914367 (+)
CAST/EiJ	MGP_CASTEiJ_G0015539	protein coding gene	Chr1:75009384-75066957 (+)
CBA/J	MGP_CBAJ_G0015928	protein coding gene	Chr1:81463528-81521745 (+)
DBA/2J	MGP_DBA2J_G0016029	protein coding gene	Chr1:72615802-72673779 (+)
FVB/NJ	MGP_FVBNJ_G0016032	protein coding gene	Chr1:71820039-71878624 (+)
LP/J	MGP_LPJ_G0016101	protein coding gene	Chr1:77069060-77130656 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016052	protein coding gene	Chr1:84808474-84867569 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016624	protein coding gene	Chr1:75397675-75457762 (+)
PWK/PhJ	MGP_PWKPhJ_G0015326	protein coding gene	Chr1:72092174-72151199 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015104	protein coding gene	Chr1:74764720-74816546 (+)
WSB/EiJ	MGP_WSBEiJ_G0015601	protein coding gene	Chr1:75212116-75269034 (+)

Human Ortholog

SPEG, striated muscle enriched protein kinase

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SPEG, striated muscle enriched protein kinase
Synonyms

APEG-1, APEG1, BPEG, CNM5, MYLK6, SPEGalpha, SPEGbeta
Links

HGNC:16901

NCBI Gene ID: 10290

neXtProt AC: NX_Q15772

UniProt: Q15772
Chr Location

2q35; chr2:219434843-219493629 (+) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: SPEG
Gene Tree

Speg

Diseases

1 with human SPEG associations

				Human Disease	Mouse Models
				centronuclear myopathy 5 IDs centronuclear myopathy 5 DOID:0111222 OMIM:615959

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

References

1 with disease annotations

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Phenotype Summary

18 phenotypes from 2 alleles in 2 genetic backgrounds
39 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
Chemically induced (other)

1
Endonuclease-mediated

3
Gene trapped

1
Radiation induced

2
Spontaneous

1
Targeted

6
Genomic Mutations

4 involving Speg
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

134 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele die during the early postnatal period with enlarged, dilated hearts, and decreased cardiac function.

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All GO Annotations

30
GO References

7

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

758
Tissues

31
cDNA Data

35
Literature Summary

3

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase speg

ZFIN spega, spegb

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All Sequences

140
RefSeq

67
UniProt

7
CCDS

CCDS35626.1, CCDS48292.1, CCDS48293.1

Ensembl

ENSMUSG00000026207 (Evidence)
NCBI Gene

11790

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026207	Ensembl Gene Model \| MGI Sequence Detail	57024	C57BL/6J	± kb
transcript	ENSMUST00000087122	Ensembl \| MGI Sequence Detail	10801	Not Applicable
polypeptide	ENSMUSP00000084361	Ensembl \| MGI Sequence Detail	3262	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000029141 striated muscle preferentially expressed protein kinase

(term hierarchy)
EC

2.7.11.1
InterPro Domains

IPR051129 Calcium/calmodulin-dependent serine/threonine kinase

IPR003961 Fibronectin type III

IPR036116 Fibronectin type III superfamily

IPR013098 Immunoglobulin I-set

IPR007110 Immunoglobulin-like domain

IPR036179 Immunoglobulin-like domain superfamily

IPR013783 Immunoglobulin-like fold

IPR003599 Immunoglobulin subtype

IPR003598 Immunoglobulin subtype 2

IPR017441 Protein kinase, ATP binding site

IPR000719 Protein kinase domain

IPR011009 Protein kinase-like domain superfamily

IPR008271 Serine/threonine-protein kinase, active site
GlyGen

Q62407 2 sites, 1 O-linked glycan (2 sites)

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All nucleic 37

cDNA 35

Primer pair 1

Other 1

Microarray probesets 7

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MGD-MRK-34269, MGD-MRK-38327, MGI:106575, MGI:2138568

Summaries

All 75

Developmental Gene Expression 3

Diseases 1

Gene Ontology 7

Phenotypes 39
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

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

TSS for Speg:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr7520	Chr1:75351915-75351969 (+)	1 bp
Tssr7521	Chr1:75351972-75351983 (+)	37 bp
Tssr7522	Chr1:75358275-75358294 (+)	6,344 bp
Tssr7523	Chr1:75358295-75358307 (+)	6,360 bp
Tssr7524	Chr1:75358763-75358793 (+)	6,837 bp
Tssr7525	Chr1:75360229-75360232 (+)	8,290 bp
Tssr7526	Chr1:75361313-75361326 (+)	9,379 bp
Tssr7527	Chr1:75362188-75362245 (+)	10,276 bp
Tssr7528	Chr1:75376714-75376807 (+)	24,820 bp
Tssr7529	Chr1:75376818-75376829 (+)	24,883 bp
Tssr124	Chr1:75377616-75377664 (+)	25,699 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