Cd248 MGI Mouse Gene Detail - MGI:1917695 - CD248 antigen, endosialin

Symbol

Cd248
Name

CD248 antigen, endosialin
Synonyms

2610111G01Rik, Cd164l1, Tem1

Feature Type

protein coding gene
IDs

MGI:1917695
NCBI Gene: 70445
Alliance

gene page
Transcription Start Sites

9 TSS

Sequence Map

Chr19:5118106-5120668 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 19, 4.24 cM
Mapping Data

3 experiments

SNPs within 2kb

123 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1917695	protein coding gene	Chr19:5118106-5120710 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0024689	protein coding gene	Chr19:1995736-1998295 (+)
A/J	MGP_AJ_G0024655	protein coding gene	Chr19:1892512-1895071 (+)
AKR/J	MGP_AKRJ_G0024628	protein coding gene	Chr19:1941806-1944365 (+)
BALB/cJ	MGP_BALBcJ_G0024655	protein coding gene	Chr19:1883016-1885575 (+)
C3H/HeJ	MGP_C3HHeJ_G0024423	protein coding gene	Chr19:1944471-1947030 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0025102	protein coding gene	Chr19:2052600-2055159 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0022532	protein coding gene	Chr19:1821868-1824428 (+)
CAST/EiJ	MGP_CASTEiJ_G0023895	protein coding gene	Chr19:1969919-1972478 (+)
CBA/J	MGP_CBAJ_G0024394	protein coding gene	Chr19:2132057-2134616 (+)
DBA/2J	MGP_DBA2J_G0024522	protein coding gene	Chr19:1877615-1880174 (+)
FVB/NJ	MGP_FVBNJ_G0024489	protein coding gene	Chr19:1878240-1880799 (+)
LP/J	MGP_LPJ_G0024608	protein coding gene	Chr19:1990022-1992581 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0024519	protein coding gene	Chr19:2014914-2017473 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0025150	protein coding gene	Chr19:1945266-1947825 (+)
PWK/PhJ	MGP_PWKPhJ_G0023641	protein coding gene	Chr19:1915167-1917726 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0023446	protein coding gene	Chr19:1932999-1935559 (+)
WSB/EiJ	MGP_WSBEiJ_G0023957	protein coding gene	Chr19:1949339-1951895 (+)

Human Ortholog

CD248, CD248 molecule

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

CD248, CD248 molecule
Synonyms

CD164L1, TEM1
Links

HGNC:18219

NCBI Gene ID: 57124

neXtProt AC: NX_Q9HCU0

UniProt: Q9HCU0
Chr Location

11q13.2; chr11:66314494-66317044 (-) GRCh38

MGI Vertebrate Homology

Cd248 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: CD248
Gene Tree

Cd248

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Phenotype Summary

7 phenotypes from 3 alleles in 3 genetic backgrounds
25 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

8
Endonuclease-mediated

3
Targeted

5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygous null mice display decreased growth of implanted abdominal and intestinal tumors, but have normal wound healing and no gross morphological abnormalities.

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All GO Annotations

16
GO References

7

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

1131
Tissues

176
cDNA Data

27
Literature Summary

12

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

ZFIN cd248a, cd248b

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All Sequences

38
RefSeq

2
UniProt

3
CCDS

CCDS29448.1

Ensembl

ENSMUSG00000056481 (Evidence)
NCBI Gene

70445

			Length	Strain/Species	Flank
genomic	70445	NCBI Gene Model \| MGI Sequence Detail	2563	C57BL/6J	± kb
transcript	NM_054042	RefSeq \| MGI Sequence Detail	2660	Not Specified
polypeptide	Q91V98	UniProt \| EBI \| MGI Sequence Detail	765	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000001346 endosialin

(term hierarchy)
InterPro Domains

IPR051505 C-type lectin domain-containing protein

IPR016187 C-type lectin fold

IPR001304 C-type lectin-like

IPR016186 C-type lectin-like/link domain superfamily

IPR018097 EGF-like calcium-binding, conserved site

IPR001881 EGF-like calcium-binding domain

IPR000742 EGF-like domain

IPR009030 Growth factor receptor cysteine-rich domain superfamily
GlyGen

Q91V98 31 sites, 1 N-linked glycan (1 site)

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All nucleic 28

cDNA 27

Primer pair 1

Microarray probesets 3

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MGI:2147605

Summaries

All 64

Developmental Gene Expression 12

Gene Ontology 7

Phenotypes 25
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 Cd248:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr154380	Chr19:5118105-5118113 (+)	3 bp
Tssr154381	Chr19:5118115-5118126 (+)	15 bp
Tssr154382	Chr19:5118129-5118143 (+)	30 bp
Tssr154383	Chr19:5118145-5118150 (+)	42 bp
Tssr154384	Chr19:5119292-5119314 (+)	1,197 bp
Tssr154385	Chr19:5119459-5119474 (+)	1,361 bp
Tssr154386	Chr19:5119718-5119733 (+)	1,620 bp
Tssr154387	Chr19:5119765-5119781 (+)	1,667 bp
Tssr154388	Chr19:5119852-5119863 (+)	1,752 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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