Mgme1 MGI Mouse Gene Detail - MGI:1921778 - mitochondrial genome maintenance exonuclease 1

Symbol

Mgme1
Name

mitochondrial genome maintenance exonuclease 1
Synonyms

8430406I07Rik

Feature Type

protein coding gene
IDs

MGI:1921778
NCBI Gene: 74528
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr2:144112824-144123147 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 2, 70.98 cM, cytoband H1
Mapping Data

3 experiments

SNPs within 2kb

380 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1921778	protein coding gene	Chr2:144112583-144123147 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0026582	protein coding gene	Chr2:148343284-148355038 (+)
A/J	MGP_AJ_G0026546	protein coding gene	Chr2:142343983-142354625 (+)
AKR/J	MGP_AKRJ_G0026520	protein coding gene	Chr2:146435437-146444179 (+)
BALB/cJ	MGP_BALBcJ_G0026558	protein coding gene	Chr2:142792499-142801241 (+)
C3H/HeJ	MGP_C3HHeJ_G0026301	protein coding gene	Chr2:146969481-146978236 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027003	protein coding gene	Chr2:152803016-152811763 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024380	protein coding gene	Chr2:136526035-136536561 (+)
CAST/EiJ	MGP_CASTEiJ_G0025762	protein coding gene	Chr2:147312321-147322782 (+)
CBA/J	MGP_CBAJ_G0026281	protein coding gene	Chr2:158372315-158381192 (+)
DBA/2J	MGP_DBA2J_G0026415	protein coding gene	Chr2:141632233-141642832 (+)
FVB/NJ	MGP_FVBNJ_G0026379	protein coding gene	Chr2:140217575-140228114 (+)
LP/J	MGP_LPJ_G0026519	protein coding gene	Chr2:148505823-148517702 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026399	protein coding gene	Chr2:162574187-162584741 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027058	protein coding gene	Chr2:146428490-146438982 (+)
PWK/PhJ	MGP_PWKPhJ_G0025498	protein coding gene	Chr2:141287716-141298349 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025299	protein coding gene	Chr2:145473491-145484392 (+)
WSB/EiJ	MGP_WSBEiJ_G0025835	protein coding gene	Chr2:147445238-147456454 (+)

Human Ortholog

MGME1, mitochondrial genome maintenance exonuclease 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MGME1, mitochondrial genome maintenance exonuclease 1
Synonyms

bA504H3.4, C20orf72, DDK1, MTDPS11
Links

HGNC:16205

NCBI Gene ID: 92667

neXtProt AC: NX_Q9BQP7

UniProt: Q9BQP7
Chr Location

20p11.23; chr20:17968590-17991122 (+) GRCh38

MGI Vertebrate Homology

Mgme1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MGME1
Gene Tree

Mgme1

Diseases

1 with human MGME1 associations

				Human Disease	Mouse Models
				mitochondrial DNA depletion syndrome 11 IDs mitochondrial DNA depletion syndrome 11 DOID:0080129 OMIM:615084 ORDO:352447

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

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Phenotype Summary

13 phenotypes from 3 alleles in 3 genetic backgrounds
16 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

116
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

109
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Mgme1
Incidental Mutations

APF
Find Mice (IMSR)

65 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a knock-out allele exhibit depletion and deletion of mitochondrial DNA, reduced mitochondrial transcription and mild anemia without developing progeria.

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All GO Annotations

12
GO References

5

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

707
Tissues

1
cDNA Data

55
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mgme1

ZFIN mgme1

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All Sequences

51
RefSeq

8
UniProt

1
CCDS

CCDS16816.1

Ensembl

ENSMUSG00000027424 (Evidence)
NCBI Gene

74528

			Length	Strain/Species	Flank
genomic	74528	NCBI Gene Model \| MGI Sequence Detail	10324	C57BL/6J	± kb
transcript	NM_001289630	RefSeq \| MGI Sequence Detail	3107	C57BL/6
polypeptide	Q9CXC3	UniProt \| EBI \| MGI Sequence Detail	338	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000060040 mitochondrial genome maintenance exonuclease 1

(term hierarchy)
EC

3.1.-.-
InterPro Domains

IPR038726 PD-(D/E)XK endonuclease-like domain, AddAB-type

IPR011604 PD-(D/E)XK endonuclease-like domain superfamily

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All nucleic 55

cDNA 55

Microarray probesets 4

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MGI:2138936

Summaries

All 43

Developmental Gene Expression 1

Gene Ontology 5

Phenotypes 16
Earliest

J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
Latest

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

TSS for Mgme1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr20524	Chr2:144112494-144112511 (+)	-321 bp
Tssr20525	Chr2:144112542-144112592 (+)	-257 bp
Tssr20526	Chr2:144112798-144112869 (+)	10 bp
Tssr20527	Chr2:144112931-144112975 (+)	129 bp
Tssr20528	Chr2:144113548-144113553 (+)	727 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 12/10/2024 MGI 6.24