Mdc1 MGI Mouse Gene Detail - MGI:3525201 - mediator of DNA damage checkpoint 1

Symbol

Mdc1
Name

mediator of DNA damage checkpoint 1
Synonyms

NFBD1

Feature Type

protein coding gene
IDs

MGI:3525201
NCBI Gene: 240087
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr17:36152407-36170562 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 18.70 cM
Mapping Data

1 experiment

Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3525201	protein coding gene	Chr17:36152390-36170562 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0023655	protein coding gene	Chr17:36038459-36058752 (+)
A/J	MGP_AJ_G0023610	protein coding gene	Chr17:34921383-34939287 (+)
AKR/J	MGP_AKRJ_G0023580	protein coding gene	Chr17:35347293-35369027 (+)
BALB/cJ	MGP_BALBcJ_G0023615	protein coding gene	Chr17:35065723-35083630 (+)
C3H/HeJ	MGP_C3HHeJ_G0023381	protein coding gene	Chr17:35812681-35831666 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0024057	protein coding gene	Chr17:37507545-37527389 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021535	protein coding gene	Chr17:32617348-32636274 (+)
CAST/EiJ	MGP_CASTEiJ_G0022872	protein coding gene	Chr17:35923557-35943268 (+)
CBA/J	MGP_CBAJ_G0023359	protein coding gene	Chr17:39090988-39111762 (+)
DBA/2J	MGP_DBA2J_G0023483	protein coding gene	Chr17:34227770-34245947 (+)
FVB/NJ	MGP_FVBNJ_G0023454	protein coding gene	Chr17:34024396-34042067 (+)
LP/J	MGP_LPJ_G0023563	protein coding gene	Chr17:36416689-36434349 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023475	protein coding gene	Chr17:37858270-37878363 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0024100	protein coding gene	Chr17:35662308-35680827 (+)
PWK/PhJ	MGP_PWKPhJ_G0022623	protein coding gene	Chr17:33089453-33107929 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0022442	protein coding gene	Chr17:33714638-33732968 (+)
WSB/EiJ	MGP_WSBEiJ_G0022938	protein coding gene	Chr17:35811416-35830925 (+)

Human Ortholog

MDC1, mediator of DNA damage checkpoint 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

MDC1, mediator of DNA damage checkpoint 1
Synonyms

NFBD1
Links

HGNC:21163

NCBI Gene ID: 9656

neXtProt AC: NX_Q14676

UniProt: Q14676
Chr Location

6p21.33; chr6:30699807-30717447 (-) GRCh38

MGI Vertebrate Homology

Mdc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: MDC1
Gene Tree

Mdc1

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Phenotype Summary

17 phenotypes from 2 alleles in 2 genetic backgrounds
23 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

35
Endonuclease-mediated

2
Gene trapped

29
Targeted

3
Transposon induced

1
Genomic Mutations

1 involving Mdc1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

73 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous mutant mice are smaller and display increased susceptibility to ionizing radiation, male infertility, T and B cell abnormalities, and increased genomic instability.

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All GO Annotations

20
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	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

742
Tissues

5
cDNA Data

72
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase mdc1

ZFIN mdc1

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All Sequences

59
RefSeq

20
UniProt

4
CCDS

CCDS37604.1

Ensembl

ENSMUSG00000061607 (Evidence)
NCBI Gene

240087

			Length	Strain/Species	Flank
genomic	ENSMUSG00000061607	Ensembl Gene Model \| MGI Sequence Detail	18156	C57BL/6J	± kb
transcript	ENSMUST00000082337	Ensembl \| MGI Sequence Detail	7335	Not Applicable
polypeptide	ENSMUSP00000080949	Ensembl \| MGI Sequence Detail	1708	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000010258 mediator of DNA damage checkpoint protein 1

(term hierarchy)
PDB

3VA1, 3VA4
InterPro Domains

IPR001357 BRCT domain

IPR036420 BRCT domain superfamily

IPR051579 DNA Damage Response and Transcriptional Regulator

IPR000253 Forkhead-associated (FHA) domain

IPR008984 SMAD/FHA domain superfamily
GlyGen

Q5PSV9 2 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 72

cDNA 72

Microarray probesets 2

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MGI:3035026

Summaries

All 65

Developmental Gene Expression 4

Gene Ontology 9

Phenotypes 23
Earliest

J:85162 Hansen J, et al., A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. Proc Natl Acad Sci U S A. 2003 Aug 19;100(17):9918-22
Latest

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

TSS for Mdc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr144417	Chr17:36152383-36152397 (+)	-17 bp
Tssr144418	Chr17:36152495-36152551 (+)	116 bp
Tssr144419	Chr17:36152560-36152575 (+)	161 bp
Tssr144420	Chr17:36152590-36152613 (+)	195 bp
Tssr144421	Chr17:36152683-36152697 (+)	283 bp
Tssr144422	Chr17:36152715-36152726 (+)	314 bp
Tssr144423	Chr17:36152773-36152781 (+)	370 bp
Tssr144424	Chr17:36165724-36165733 (+)	13,322 bp
Tssr144425	Chr17:36165778-36165784 (+)	13,374 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 11/12/2024 MGI 6.24