Sco1 MGI Mouse Gene Detail - MGI:106362 - SCO1 cytochrome c oxidase assembly protein

Symbol

Sco1
Name

SCO1 cytochrome c oxidase assembly protein
Synonyms

2610001C07Rik, D11Bwg1310e

Feature Type

protein coding gene
IDs

MGI:106362
NCBI Gene: 52892
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr11:66943496-66957896 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 11, 40.59 cM
Mapping Data

2 experiments

SNPs within 2kb

447 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_106362	protein coding gene	Chr11:66943473-66958270 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0018484	protein coding gene	Chr11:67329437-67344640 (+)
A/J	MGP_AJ_G0018453	protein coding gene	Chr11:64806737-64821127 (+)
AKR/J	MGP_AKRJ_G0018422	protein coding gene	Chr11:66749853-66764245 (+)
BALB/cJ	MGP_BALBcJ_G0018424	protein coding gene	Chr11:65092936-65107328 (+)
C3H/HeJ	MGP_C3HHeJ_G0018237	protein coding gene	Chr11:66758695-66773082 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0018876	protein coding gene	Chr11:69362935-69378585 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0016520	protein coding gene	Chr11:61770920-61783681 (+)
CAST/EiJ	MGP_CASTEiJ_G0017793	protein coding gene	Chr11:66984357-66998737 (+)
CBA/J	MGP_CBAJ_G0018211	protein coding gene	Chr11:72411420-72425814 (+)
DBA/2J	MGP_DBA2J_G0018320	protein coding gene	Chr11:64354119-64368509 (+)
FVB/NJ	MGP_FVBNJ_G0018310	protein coding gene	Chr11:64015662-64030059 (+)
LP/J	MGP_LPJ_G0018392	protein coding gene	Chr11:67879727-67898942 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018334	protein coding gene	Chr11:73239382-73253774 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0018917	protein coding gene	Chr11:66981854-66996240 (+)
PWK/PhJ	MGP_PWKPhJ_G0017567	protein coding gene	Chr11:65012855-65027224 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0017357	protein coding gene	Chr11:66807345-66821725 (+)
WSB/EiJ	MGP_WSBEiJ_G0017846	protein coding gene	Chr11:66598253-66613584 (+)

Human Ortholog

SCO1, synthesis of cytochrome C oxidase 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SCO1, synthesis of cytochrome C oxidase 1
Synonyms

MC4DN4, SCOD1
Links

HGNC:10603

NCBI Gene ID: 6341

neXtProt AC: NX_O75880

UniProt: O75880
Chr Location

17p13.1; chr17:10672474-10698375 (-) GRCh38

MGI Vertebrate Homology

Sco1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SCO1
Protein SuperFamily

SCO1
Gene Tree

Sco1

Diseases

1 with Sco1 mouse models; 2 with human SCO1 associations

Human Disease

Mouse Models

cytochrome-c oxidase deficiency disease

IDs

View 1 model

mitochondrial complex IV deficiency nuclear type 4

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

17 phenotypes from 1 allele in 1 genetic background
11 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

5
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

2
Genomic Mutations

1 involving Sco1
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

19 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a conditional allele knocked out in the liver exhibit weight loss, premature death, spleen atrophy, reduced white blood cells, increased mitochondria proliferation, increased iron levels in the liver and spleen, and decreased copper levels in the liver and kidney.

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All GO Annotations

41
GO References

12

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

785
Tissues

26
cDNA Data

10
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 sco1

ZFIN sco1

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All Sequences

44
RefSeq

4
UniProt

3
CCDS

CCDS36183.1

Ensembl

ENSMUSG00000069844 (Evidence)
NCBI Gene

52892

			Length	Strain/Species	Flank
genomic	ENSMUSG00000069844	Ensembl Gene Model \| MGI Sequence Detail	14401	C57BL/6J	± kb
transcript	ENSMUST00000108690	Ensembl \| MGI Sequence Detail	2186	Not Applicable
polypeptide	ENSMUSP00000104330	Ensembl \| MGI Sequence Detail	289	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000014531 protein SCO1, mitochondrial

(term hierarchy)
InterPro Domains

IPR003782 Copper chaperone SCO1/SenC

IPR017276 Synthesis of cytochrome c oxidase, Sco1/Sco2

IPR013766 Thioredoxin domain

IPR036249 Thioredoxin-like superfamily

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All nucleic 12

cDNA 11

Primer pair 1

Microarray probesets 2

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MGD-MRK-34054, MGI:1914354

Summaries

All 39

Developmental Gene Expression 3

Diseases 1

Gene Ontology 12

Phenotypes 11
Earliest

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

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

TSS for Sco1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr102151	Chr11:66943467-66943534 (+)	5 bp
Tssr102152	Chr11:66943536-66943547 (+)	46 bp
Tssr102153	Chr11:66955576-66955597 (+)	12,091 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