Ercc8 MGI Mouse Gene Detail - MGI:1919241 - excision repaiross-complementing rodent repair deficiency, complementation group 8

Symbol

Ercc8
Name

excision repaiross-complementing rodent repair deficiency, complementation group 8
Synonyms

2410022P04Rik, 2810431L23Rik, 4631412O06Rik, B130065P18Rik, Ckn1, Csa

Feature Type

protein coding gene
IDs

MGI:1919241
NCBI Gene: 71991
Alliance

gene page
Transcription Start Sites

1 TSS

Sequence Map

Chr13:108295265-108331898 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 59.69 cM, cytoband D
Mapping Data

3 experiments

SNPs within 2kb

255 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1919241	protein coding gene	Chr13:108295246-108337738 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020924	protein coding gene	Chr13:110453788-110494085 (+)
A/J	MGP_AJ_G0020873	protein coding gene	Chr13:106106393-106146099 (+)
AKR/J	MGP_AKRJ_G0020849	protein coding gene	Chr13:109316814-109353388 (+)
BALB/cJ	MGP_BALBcJ_G0020874	protein coding gene	Chr13:106826305-106863834 (+)
C3H/HeJ	MGP_C3HHeJ_G0020663	protein coding gene	Chr13:109100872-109141111 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021309	protein coding gene	Chr13:113766384-113806972 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018878	protein coding gene	Chr13:101582462-101619728 (+)
CAST/EiJ	MGP_CASTEiJ_G0020182	protein coding gene	Chr13:108628640-108669152 (+)
CBA/J	MGP_CBAJ_G0020625	protein coding gene	Chr13:118163255-118207581 (+)
DBA/2J	MGP_DBA2J_G0020748	protein coding gene	Chr13:105867754-105904562 (+)
FVB/NJ	MGP_FVBNJ_G0020731	protein coding gene	Chr13:104516721-104553595 (+)
LP/J	MGP_LPJ_G0020823	protein coding gene	Chr13:110518902-110556600 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020759	protein coding gene	Chr13:118562255-118601429 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021347	protein coding gene	Chr13:108780849-108820264 (+)
PWK/PhJ	MGP_PWKPhJ_G0019935	protein coding gene	Chr13:104553816-104592742 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019757	protein coding gene	Chr13:105046061-105079240 (+)
WSB/EiJ	MGP_WSBEiJ_G0020240	protein coding gene	Chr13:109327390-109367453 (+)

Human Ortholog

ERCC8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ERCC8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Synonyms

CKN1, CSA, UVSS2
Links

HGNC:3439

NCBI Gene ID: 1161

neXtProt AC: NX_Q13216

UniProt: Q13216
Chr Location

5q12.1; chr5:60866454-60945073 (-) GRCh38

MGI Vertebrate Homology

Ercc8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ERCC8
Gene Tree

Ercc8

Diseases

1 with Ercc8 mouse models; 3 with human ERCC8 associations

Human Disease

Mouse Models

Cockayne syndrome

IDs

View 2 models

Cockayne syndrome A

IDs

UV-sensitive syndrome

IDs

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

Mutations/Alleles

1 with disease annotations

References

2 with disease annotations

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Phenotype Summary

17 phenotypes from 2 alleles in 3 genetic backgrounds
3 phenotypes from multigenic genotypes
1 images
19 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
Endonuclease-mediated

5
Gene trapped

7
Targeted

2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

31 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutation of this gene results in skin photosensitivity, increased incidence of skin tumors after UV exposure, and progressive photoreceptor degeneration.

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All GO Annotations

36
GO References

9

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	non-membrane-bounded 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

800
Tissues

94
cDNA Data

46
Literature Summary

1

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase ercc8

ZFIN ercc8

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All Sequences

76
RefSeq

11
UniProt

9
CCDS

CCDS26761.1

Ensembl

ENSMUSG00000021694 (Evidence)
NCBI Gene

71991

			Length	Strain/Species	Flank
genomic	ENSMUSG00000021694	Ensembl Gene Model \| MGI Sequence Detail	36634	C57BL/6J	± kb
transcript	ENSMUST00000054835	Ensembl \| MGI Sequence Detail	2111	Not Applicable
polypeptide	ENSMUSP00000059211	Ensembl \| MGI Sequence Detail	397	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000007170 DNA excision repair protein ERCC-8

(term hierarchy)
InterPro Domains

IPR042238 DNA excision repair protein Rad28/ERCC8/Ckn1/ATCSA-1

IPR020472 G-protein beta WD-40 repeat

IPR001680 WD40 repeat

IPR019775 WD40 repeat, conserved site

IPR036322 WD40-repeat-containing domain superfamily

IPR015943 WD40/YVTN repeat-like-containing domain superfamily

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All nucleic 47

Genomic 1

cDNA 46

Microarray probesets 5

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MGI:1917208, MGI:1924296, MGI:2443311

Summaries

All 51

Developmental Gene Expression 1

Diseases 2

Gene Ontology 9

Phenotypes 19
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:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Ercc8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr120967	Chr13:108295257-108295288 (+)	8 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 04/16/2024 MGI 6.23