Coq8a MGI Mouse Gene Detail - MGI:1914676

Symbol

Coq8a
Name

coenzyme Q8A
Synonyms

4632432J16Rik, Adck3, Cabc1, mKIAA0451

Feature Type

protein coding gene
IDs

MGI:1914676
NCBI Gene: 67426
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr1:179992803-180023585 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 84.15 cM, cytoband H4
Mapping Data

2 experiments

SNPs within 2kb

959 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914676	protein coding gene	Chr1:179992803-180027167 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0016866	protein coding gene	Chr1:186579896-186615240 (-)
A/J	MGP_AJ_G0016845	protein coding gene	Chr1:179041703-179076163 (-)
AKR/J	MGP_AKRJ_G0016811	protein coding gene	Chr1:184364216-184400361 (-)
BALB/cJ	MGP_BALBcJ_G0016803	protein coding gene	Chr1:179664342-179698581 (-)
C3H/HeJ	MGP_C3HHeJ_G0016628	protein coding gene	Chr1:185125894-185161190 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017266	protein coding gene	Chr1:192603027-192638402 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014974	protein coding gene	Chr1:170018840-170053145 (-)
CAST/EiJ	MGP_CASTEiJ_G0016209	protein coding gene	Chr1:184438226-184477504 (-)
CBA/J	MGP_CBAJ_G0016602	protein coding gene	Chr1:199753519-199789574 (-)
DBA/2J	MGP_DBA2J_G0016708	protein coding gene	Chr1:177880204-177913812 (-)
FVB/NJ	MGP_FVBNJ_G0016704	protein coding gene	Chr1:175970985-176005805 (-)
LP/J	MGP_LPJ_G0016782	protein coding gene	Chr1:187842779-187877015 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016735	protein coding gene	Chr1:206960785-206997080 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017303	protein coding gene	Chr1:184137138-184171474 (-)
PWK/PhJ	MGP_PWKPhJ_G0015997	protein coding gene	Chr1:176947191-176997447 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0015773	protein coding gene	Chr1:183048781-183097461 (-)
WSB/EiJ	MGP_WSBEiJ_G0016272	protein coding gene	Chr1:184335563-184369933 (-)

Human Ortholog

COQ8A, coenzyme Q8A

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COQ8A, coenzyme Q8A
Synonyms

ADCK3, ARCA2, CABC1, COQ10D4, COQ8, SCAR9
Links

HGNC:16812

NCBI Gene ID: 56997

neXtProt AC: NX_Q8NI60

UniProt: Q8NI60
Chr Location

1q42.13; chr1:226940286-226987544 (+) GRCh38

MGI Vertebrate Homology

Coq8a stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: COQ8A
Gene Tree

Coq8a

Diseases

1 with Coq8a mouse models; 1 with human COQ8A associations

Human Disease

Mouse Models

primary coenzyme Q10 deficiency 4

IDs

View 1 model

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

13 phenotypes from 1 allele in 1 genetic background
9 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

8
Chemically induced (other)

2
Endonuclease-mediated

1
Targeted

5
Genomic Mutations

2 involving Coq8a
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

20 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice develop slowly progressing cerebellar ataxia, Purkinje cell degeneration and dysfunction, mild exercise intolerance, and increased susceptibility to induced seizures.

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All GO Annotations

16
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

712
Tissues

3
cDNA Data

8
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase coq8a

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All Sequences

128
RefSeq

12
UniProt

15
CCDS

CCDS15566.1

Ensembl

ENSMUSG00000026489 (Evidence)
NCBI Gene

67426

			Length	Strain/Species	Flank
genomic	67426	NCBI Gene Model \| MGI Sequence Detail	30783	C57BL/6J	± kb
transcript	NM_023341	RefSeq \| MGI Sequence Detail	4026	C57BL/6
polypeptide	Q60936	UniProt \| EBI \| MGI Sequence Detail	645	Not Applicable

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UniProt

15 Sequences
Protein Ontology

PR:000004929 atypical kinase COQ8A, mitochondrial

(term hierarchy)
EC

2.7.-.-
InterPro Domains

IPR004147 ABC1 atypical kinase-like domain

IPR034646 ADCK3-like domain

IPR051409 Atypical kinase ADCK

IPR011009 Protein kinase-like domain superfamily
GlyGen

Q60936 1 site, 1 O-linked glycan (1 site)

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All nucleic 10

cDNA 9

Primer pair 1

Microarray probesets 6

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MGI:2138259

Summaries

All 38

Developmental Gene Expression 3

Diseases 1

Gene Ontology 7

Phenotypes 9
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:307968 He Y, et al., Single-cell RNA-Seq reveals a highly coordinated transcriptional program in mouse germ cells during primordial follicle formation. Aging Cell. 2021 Jul;20(7):e13424

TSS for Coq8a:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr15522	Chr1:180023546-180023570 (-)	27 bp
Tssr15521	Chr1:180023518-180023542 (-)	55 bp
Tssr15520	Chr1:180023506-180023511 (-)	76 bp
Tssr15519	Chr1:180021218-180021231 (-)	2,360 bp
Tssr15518	Chr1:180021040-180021057 (-)	2,536 bp
Tssr15517	Chr1:180020723-180020745 (-)	2,851 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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