Eps8l3 MGI Mouse Gene Detail - MGI:2139743

Symbol

Eps8l3
Name

EPS8-like 3

Feature Type

protein coding gene
IDs

MGI:2139743
NCBI Gene: 99662
Alliance

gene page
Transcription Start Sites

2 TSS

Sequence Map

Chr3:107784545-107800216 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 3, 46.83 cM
Mapping Data

1 experiment

SNPs within 2kb

416 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2139743	protein coding gene	Chr3:107781177-107800216 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027756	protein coding gene	Chr3:109393516-109410321 (+)
A/J	MGP_AJ_G0027716	protein coding gene	Chr3:105931795-105947520 (+)
AKR/J	MGP_AKRJ_G0027681	protein coding gene	Chr3:108503498-108520825 (+)
BALB/cJ	MGP_BALBcJ_G0027728	protein coding gene	Chr3:105622737-105639035 (+)
C3H/HeJ	MGP_C3HHeJ_G0027458	protein coding gene	Chr3:108848683-108866150 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0028172	protein coding gene	Chr3:113480006-113496519 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025510	protein coding gene	Chr3:102078130-102093566 (+)
CAST/EiJ	MGP_CASTEiJ_G0026914	protein coding gene	Chr3:108229296-108246441 (+)
CBA/J	MGP_CBAJ_G0027433	protein coding gene	Chr3:117329679-117348600 (+)
DBA/2J	MGP_DBA2J_G0027575	protein coding gene	Chr3:105116663-105132536 (+)
FVB/NJ	MGP_FVBNJ_G0027543	protein coding gene	Chr3:102998010-103013662 (+)
LP/J	MGP_LPJ_G0027682	protein coding gene	Chr3:110814583-110830363 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027573	protein coding gene	Chr3:123410211-123426688 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0028227	protein coding gene	Chr3:108104411-108120829 (+)
PWK/PhJ	MGP_PWKPhJ_G0026640	protein coding gene	Chr3:104861046-104877054 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026460	protein coding gene	Chr3:106234428-106250291 (+)
WSB/EiJ	MGP_WSBEiJ_G0026994	protein coding gene	Chr3:108624580-108640218 (+)

Human Ortholog

EPS8L3, EPS8 signaling adaptor L3

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPS8L3, EPS8 signaling adaptor L3
Synonyms

EPS8R3, HYPT5, MUHH2
Links

HGNC:21297

NCBI Gene ID: 79574

neXtProt AC: NX_Q8TE67

UniProt: Q8TE67
Chr Location

1p13.3; chr1:109750080-109764027 (-) GRCh38

MGI Vertebrate Homology

Eps8l3 stringent orthology
1 human;1 mouse;2 zebrafish
HCOP

vertebrate homology predictions: EPS8L3
Gene Tree

Eps8l3

Diseases

1 with human EPS8L3 associations

				Human Disease	Mouse Models
				hypotrichosis 5 IDs hypotrichosis 5 DOID:0110702 MESH:C567554 OMIM:612841

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

References

1 with disease annotations

less

Phenotype Summary

2 phenotypes from 1 allele in 1 genetic background
14 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

9
Chemically induced (other)

1
Endonuclease-mediated

2
Radiation induced

1
Targeted

5
Genomic Mutations

2 involving Eps8l3
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

32 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

less

All GO Annotations

12
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.

less

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

839
Tissues

128
cDNA Data

8
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 eps8l3

ZFIN eps8l3b

less

All Sequences

41
RefSeq

8
UniProt

2
CCDS

CCDS38594.1

Ensembl

ENSMUSG00000040600 (Evidence)
NCBI Gene

99662

			Length	Strain/Species	Flank
genomic	ENSMUSG00000040600	Ensembl Gene Model \| MGI Sequence Detail	15672	C57BL/6J	± kb
transcript	ENSMUST00000037375	Ensembl \| MGI Sequence Detail	2271	Not Applicable
polypeptide	ENSMUSP00000042004	Ensembl \| MGI Sequence Detail	600	Not Applicable

less

UniProt

2 Sequences
Protein Ontology

PR:000007150 epidermal growth factor receptor kinase substrate 8-like protein 3

(term hierarchy)
InterPro Domains

IPR039801 Epidermal growth factor receptor kinase substrate 8-like

IPR033928 Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain

IPR035462 Eps8, SH3 domain

IPR011993 PH-like domain superfamily

IPR041418 SAM domain

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR013761 Sterile alpha motif/pointed domain superfamily

IPR013625 Tensin/EPS8 phosphotyrosine-binding domain

less

All nucleic 12

cDNA 8

Primer pair 2

Other 2

Microarray probesets 3

Summaries

All 41

Developmental Gene Expression 3

Diseases 1

Gene Ontology 4

Phenotypes 14
Earliest

J:70677 Cook SA, et al., Mouse paracentric inversion In(3)55Rk mutates the urate oxidase gene. Cytogenet Cell Genet. 2001;93(1-2):77-82
Latest

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

TSS for Eps8l3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr31219	Chr3:107784421-107784439 (+)	-115 bp
Tssr31220	Chr3:107784543-107784568 (+)	11 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 11/19/2024 MGI 6.24