Edil3 MGI Mouse Gene Detail - MGI:1329025 - EGF-like repeats and discoidin I-like domains 3

Symbol

Edil3
Name

EGF-like repeats and discoidin I-like domains 3
Synonyms

Del-1, Del1, developmental endothelial locus-1

Feature Type

protein coding gene
IDs

MGI:1329025
NCBI Gene: 13612
Alliance

gene page
Transcription Start Sites

17 TSS

Sequence Map

Chr13:88969591-89471342 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 45.30 cM, cytoband C3
Mapping Data

3 experiments

SNPs within 2kb

15500 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1329025	protein coding gene	Chr13:88969591-89471344 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020798	protein coding gene	Chr13:89919712-90464646 (+)
A/J	MGP_AJ_G0020752	protein coding gene	Chr13:86614237-87110706 (+)
AKR/J	MGP_AKRJ_G0020725	protein coding gene	Chr13:89250728-89770650 (+)
BALB/cJ	MGP_BALBcJ_G0020748	protein coding gene	Chr13:87270328-87776238 (+)
C3H/HeJ	MGP_C3HHeJ_G0020542	protein coding gene	Chr13:88997496-89516697 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0021185	protein coding gene	Chr13:92773148-93328766 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018753	protein coding gene	Chr13:82704137-83187479 (+)
CAST/EiJ	MGP_CASTEiJ_G0020060	protein coding gene	Chr13:88125925-88682391 (+)
CBA/J	MGP_CBAJ_G0020501	protein coding gene	Chr13:96376949-96945672 (+)
DBA/2J	MGP_DBA2J_G0020626	protein coding gene	Chr13:86373184-86890566 (+)
FVB/NJ	MGP_FVBNJ_G0020606	protein coding gene	Chr13:85248184-85741268 (+)
LP/J	MGP_LPJ_G0020699	protein coding gene	Chr13:90094551-90620593 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020635	protein coding gene	Chr13:96508432-97272170 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0021225	protein coding gene	Chr13:88661219-89181958 (+)
PWK/PhJ	MGP_PWKPhJ_G0019813	protein coding gene	Chr13:85098398-85623152 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019636	protein coding gene	Chr13:84886375-85410417 (+)
WSB/EiJ	MGP_WSBEiJ_G0020118	protein coding gene	Chr13:89146702-89663514 (+)

Human Ortholog

EDIL3, EGF like repeats and discoidin domains 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EDIL3, EGF like repeats and discoidin domains 3
Synonyms

DEL1
Links

HGNC:3173

NCBI Gene ID: 10085

neXtProt AC: NX_O43854

UniProt: O43854
Chr Location

5q14.3; chr5:83940554-84384880 (-) GRCh38

MGI Vertebrate Homology

Edil3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EDIL3
Gene Tree

Edil3

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Mutations/Alleles

1 with disease annotations

References

5 with disease annotations

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Phenotype Summary

13 phenotypes from 4 alleles in 5 genetic backgrounds
387 phenotypes from multigenic genotypes
22 images
558 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

13
Chemically induced (other)

1
Endonuclease-mediated

3
Targeted

3
Transgenic

6
Genomic Mutations

1 involving Edil3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

43 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation are viable and fertile with no noticeable fur phenotype. Homozygous KO leads to absence of bone regeneration after induced periodontitis.

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All GO Annotations

4
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

763
Tissues

36
cDNA Data

15
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase edil3

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All Sequences

57
RefSeq

4
UniProt

3
CCDS

CCDS26669.1, CCDS26670.1

Ensembl

ENSMUSG00000034488 (Evidence)
NCBI Gene

13612

			Length	Strain/Species	Flank
genomic	ENSMUSG00000034488	Ensembl Gene Model \| MGI Sequence Detail	501752	C57BL/6J	± kb
transcript	ENSMUST00000081769	Ensembl \| MGI Sequence Detail	5317	Not Applicable
polypeptide	ENSMUSP00000080462	Ensembl \| MGI Sequence Detail	480	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000006896 EGF-like repeat and discoidin I-like domain-containing protein 3

(term hierarchy)
InterPro Domains

IPR000421 Coagulation factor 5/8 C-terminal domain

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR013032 EGF-like, conserved site

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR008979 Galactose-binding-like domain superfamily

IPR050633 Neuropilin/Multicopper Oxidase/Coagulation Factor
GlyGen

O35474 5 sites, 2 N-linked glycans (3 sites)

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All nucleic 27

Genomic 2

cDNA 21

Primer pair 3

Other 1

Microarray probesets 10

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MGI:2656537

Summaries

All 594

Developmental Gene Expression 12

Diseases 5

Gene Ontology 4

Phenotypes 558
Earliest

J:182573 Roderick TH, Producing and detecting paracentric chromosomal inversions in mice. Mutat Res. 1971 Jan;11(1):59-69
Latest

J:355221 Priam P, et al., Smarcd1 subunit of SWI/SNF chromatin-remodeling complexes collaborates with E2a to promote murine lymphoid specification. Dev Cell. 2024 Aug 30;

TSS for Edil3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr120562	Chr13:88969593-88969639 (+)	25 bp
Tssr120563	Chr13:88969662-88969699 (+)	90 bp
Tssr120564	Chr13:88969701-88969710 (+)	115 bp
Tssr120565	Chr13:88969713-88969722 (+)	127 bp
Tssr120566	Chr13:88969725-88969742 (+)	143 bp
Tssr120567	Chr13:88969788-88969795 (+)	201 bp
Tssr120568	Chr13:88969798-88969803 (+)	210 bp
Tssr120569	Chr13:88969827-88969838 (+)	242 bp
Tssr120570	Chr13:88969851-88969858 (+)	264 bp
Tssr120571	Chr13:88969869-88969880 (+)	284 bp
Tssr120572	Chr13:88970001-88970033 (+)	426 bp
Tssr120573	Chr13:88970035-88970061 (+)	457 bp
Tssr120574	Chr13:88970062-88970095 (+)	488 bp
Tssr120578	Chr13:89068502-89068505 (+)	98,913 bp
Tssr120579	Chr13:89199526-89199530 (+)	229,937 bp
Tssr120580	Chr13:89357828-89357833 (+)	388,240 bp
Tssr120581	Chr13:89375586-89375592 (+)	405,998 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