Chchd10 MGI Mouse Gene Detail - MGI:2143558 - coiled-coil-helix-coiled-coil-helix domain containing 10

Symbol

Chchd10
Name

coiled-coil-helix-coiled-coil-helix domain containing 10
Synonyms

1620401E04Rik, Ndg2

Feature Type

protein coding gene
IDs

MGI:2143558
NCBI Gene: 103172
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr10:75768964-75773581 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 38.62 cM
Mapping Data

2 experiments

SNPs within 2kb

146 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2143558	protein coding gene	Chr10:75768964-75773584 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0017372	protein coding gene	Chr10:76137926-76140078 (+)
A/J	MGP_AJ_G0017349	protein coding gene	Chr10:73519106-73521258 (+)
AKR/J	MGP_AKRJ_G0017310	protein coding gene	Chr10:75493571-75495723 (+)
BALB/cJ	MGP_BALBcJ_G0017309	protein coding gene	Chr10:73716787-73718939 (+)
C3H/HeJ	MGP_C3HHeJ_G0017133	protein coding gene	Chr10:75541027-75543179 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017767	protein coding gene	Chr10:78830438-78832590 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015457	protein coding gene	Chr10:69970419-69972562 (+)
CAST/EiJ	MGP_CASTEiJ_G0016704	protein coding gene	Chr10:75856891-75859034 (+)
CBA/J	MGP_CBAJ_G0017105	protein coding gene	Chr10:81901731-81903883 (+)
DBA/2J	MGP_DBA2J_G0017210	protein coding gene	Chr10:72818773-72820925 (+)
FVB/NJ	MGP_FVBNJ_G0017203	protein coding gene	Chr10:71973584-71975736 (+)
LP/J	MGP_LPJ_G0017283	protein coding gene	Chr10:76638879-76641031 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017231	protein coding gene	Chr10:83994607-83996759 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017806	protein coding gene	Chr10:75528663-75530815 (+)
PWK/PhJ	MGP_PWKPhJ_G0016487	protein coding gene	Chr10:72647295-72649447 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0016270	protein coding gene	Chr10:74780410-74782549 (+)
WSB/EiJ	MGP_WSBEiJ_G0016767	protein coding gene	Chr10:75510532-75512684 (+)

Human Ortholog

CHCHD10, coiled-coil-helix-coiled-coil-helix domain containing 10

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CHCHD10, coiled-coil-helix-coiled-coil-helix domain containing 10
Synonyms

C22orf16, FTDALS2, IMMD, MIX17A, N27C7-4, SMAJ
Links

HGNC:15559

NCBI Gene ID: 400916

neXtProt AC: NX_Q8WYQ3

UniProt: Q8WYQ3
Chr Location

22q11.23; chr22:23765834-23767972 (-) GRCh38

MGI Vertebrate Homology

Chchd10 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: CHCHD10
Gene Tree

Chchd10

Diseases

1 with Chchd10 mouse models; 3 with human CHCHD10 associations

Human Disease

Mouse Models

isolated mitochondrial myopathy

IDs

View 1 model

frontotemporal dementia and/or amyotrophic lateral sclerosis 2

IDs

spinal muscular atrophy, Jokela type

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

46 phenotypes from 6 alleles in 6 genetic backgrounds
10 phenotypes from multigenic genotypes
25 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
Chemically induced (other)

1
Endonuclease-mediated

12
Gene trapped

8
Targeted

2
Genomic Mutations

1 involving Chchd10
Find Mice (IMSR)

17 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous deletion results in mild mitochondrial respiration anomalies in skeletal muscle.

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All GO Annotations

14
GO References

4

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

848
Tissues

26
cDNA Data

11
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase chchd10

ZFIN chchd10

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All Sequences

48
RefSeq

4
UniProt

3
CCDS

CCDS23938.1

Ensembl

ENSMUSG00000049422 (Evidence)
NCBI Gene

103172

			Length	Strain/Species	Flank
genomic	ENSMUSG00000049422	Ensembl Gene Model \| MGI Sequence Detail	4618	C57BL/6J	± kb
transcript	ENSMUST00000058906	Ensembl \| MGI Sequence Detail	939	Not Applicable
polypeptide	ENSMUSP00000059575	Ensembl \| MGI Sequence Detail	138	Not Applicable

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UniProt

3 Sequences
InterPro Domains

IPR010625 CHCH

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All nucleic 13

cDNA 11

Primer pair 2

Microarray probesets 3

Summaries

All 58

Developmental Gene Expression 5

Diseases 1

Gene Ontology 4

Phenotypes 25
Earliest

J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
Latest

J:351866 Southwell N, et al., High fat diet ameliorates mitochondrial cardiomyopathy in CHCHD10 mutant mice. EMBO Mol Med. 2024 Jun;16(6):1352-1378

TSS for Chchd10:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr94147	Chr10:75769153-75769187 (+)	206 bp
Tssr94148	Chr10:75769190-75769211 (+)	237 bp
Tssr94149	Chr10:75771690-75771706 (+)	2,734 bp
Tssr94150	Chr10:75771712-75771742 (+)	2,763 bp
Tssr94151	Chr10:75772060-75772093 (+)	3,113 bp
Tssr94152	Chr10:75772108-75772126 (+)	3,153 bp
Tssr94153	Chr10:75772139-75772156 (+)	3,184 bp
Tssr94154	Chr10:75772158-75772167 (+)	3,199 bp
Tssr94155	Chr10:75772238-75772251 (+)	3,281 bp
Tssr94156	Chr10:75772996-75773008 (+)	4,038 bp
Tssr94157	Chr10:75773010-75773029 (+)	4,056 bp
Tssr94158	Chr10:75773131-75773167 (+)	4,185 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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