Egfem1 MGI Mouse Gene Detail - MGI:1922990 - EGF-like and EMI domain containing 1

Symbol

Egfem1
Name

EGF-like and EMI domain containing 1
Synonyms

6130401L20Rik

Feature Type

protein coding gene
IDs

MGI:1922990
NCBI Gene: 75740
Alliance

gene page
Transcription Start Sites

12 TSS

Sequence Map

Chr3:29136172-29745358 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 12.57 cM, cytoband A3
Mapping Data

2 experiments

SNPs within 2kb

17625 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1922990	protein coding gene	Chr3:29135695-29831923 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027119	protein coding gene	Chr3:26505005-27142073 (+)
A/J	MGP_AJ_G0027079	protein coding gene	Chr3:26221671-26827298 (+)
AKR/J	MGP_AKRJ_G0027048	protein coding gene	Chr3:26609851-27214192 (+)
BALB/cJ	MGP_BALBcJ_G0027091	protein coding gene	Chr3:25900074-26509319 (+)
C3H/HeJ	MGP_C3HHeJ_G0026833	protein coding gene	Chr3:26649183-27262758 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027537	protein coding gene	Chr3:27946785-28619508 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0024898	protein coding gene	Chr3:24209888-24772307 (+)
CAST/EiJ	MGP_CASTEiJ_G0026287	protein coding gene	Chr3:26503405-27111825 (+)
CBA/J	MGP_CBAJ_G0026811	protein coding gene	Chr3:28680448-29357426 (+)
DBA/2J	MGP_DBA2J_G0026945	protein coding gene	Chr3:25789680-26389623 (+)
FVB/NJ	MGP_FVBNJ_G0026913	protein coding gene	Chr3:25255749-25843428 (+)
LP/J	MGP_LPJ_G0027056	protein coding gene	Chr3:27182924-27814508 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0026933	protein coding gene	Chr3:31241843-31923679 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027596	protein coding gene	Chr3:26344444-26967289 (+)
PWK/PhJ	MGP_PWKPhJ_G0026020	protein coding gene	Chr3:25280183-25880198 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0025832	protein coding gene	Chr3:25832605-26460759 (+)
WSB/EiJ	MGP_WSBEiJ_G0026361	protein coding gene	Chr3:26390607-27031024 (+)

Human Ortholog

EGFEM1P, EGF like and EMI domain containing 1, pseudogene

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EGFEM1P, EGF like and EMI domain containing 1, pseudogene
Synonyms

C3orf50, NCRNA00259
Links

HGNC:25149

NCBI Gene ID: 93556

UniProt: Q0D2K5
Chr Location

3q26.2; chr3:168249522-168830599 (+) GRCh38

MGI Vertebrate Homology

Egfem1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EGFEM1P
Gene Tree

Egfem1

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References

1 with disease annotations

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Phenotype Summary

7 phenotypes from 1 allele in 1 genetic background
8 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
Endonuclease-mediated

1
Gene trapped

1
Radiation induced

1
Targeted

2
Genomic Mutations

1 involving Egfem1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

50 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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All GO Annotations

1
GO References

1

Molecular Function

Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.

Cellular Component

No experimental evidence to support Cellular Component annotation, following literature review. See J:73796.

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

706
cDNA Data

10

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

87
RefSeq

45
UniProt

6
CCDS

CCDS50881.1, CCDS50882.1

Ensembl

ENSMUSG00000063600 (Evidence)
NCBI Gene

75740

			Length	Strain/Species	Flank
genomic	ENSMUSG00000063600	Ensembl Gene Model \| MGI Sequence Detail	609187	C57BL/6J	± kb
transcript	ENSMUST00000119598	Ensembl \| MGI Sequence Detail	2687	Not Applicable
polypeptide	ENSMUSP00000112943	Ensembl \| MGI Sequence Detail	590	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000033519 EGF-like and EMI domain-containing protein 1

(term hierarchy)
InterPro Domains

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR000742 EGF-like domain

IPR000152 EGF-type aspartate/asparagine hydroxylation site

IPR011489 EMI domain

IPR050751 Extracellular matrix structural protein

IPR051145 Growth Arrest-Specific/Sex Hormone-Binding/Vitamin K-Dependent

IPR009030 Growth factor receptor cysteine-rich domain superfamily

IPR049883 NOTCH1 EGF-like calcium-binding domain

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All nucleic 10

cDNA 10

Microarray probesets 2

Summaries

All 26

Diseases 1

Gene Ontology 1

Phenotypes 8
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Egfem1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr28665	Chr3:29136688-29136739 (+)	542 bp
Tssr28666	Chr3:29163950-29163956 (+)	27,781 bp
Tssr28667	Chr3:29208367-29208375 (+)	72,199 bp
Tssr28668	Chr3:29252917-29252919 (+)	116,746 bp
Tssr28669	Chr3:29290076-29290080 (+)	153,906 bp
Tssr28670	Chr3:29294571-29294574 (+)	158,401 bp
Tssr28671	Chr3:29315148-29315152 (+)	178,978 bp
Tssr851	Chr3:29322675-29322678 (+)	186,505 bp
Tssr28672	Chr3:29368874-29368883 (+)	232,707 bp
Tssr28673	Chr3:29432005-29432009 (+)	295,835 bp
Tssr28674	Chr3:29522048-29522053 (+)	385,879 bp
Tssr28675	Chr3:29596042-29596044 (+)	459,871 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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