Aspn MGI Mouse Gene Detail - MGI:1913945

Symbol

Aspn
Name

asporin
Synonyms

4631401G09Rik, PLAP-1, SLRR1C

Feature Type

protein coding gene
IDs

MGI:1913945
NCBI Gene: 66695
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr13:49697919-49721041 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 13, 25.31 cM, cytoband B1
Mapping Data

3 experiments

SNPs within 2kb

410 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1913945	protein coding gene	Chr13:49697919-49721041 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020538	protein coding gene	Chr13:48521835-48547154 (+)
A/J	MGP_AJ_G0020492	protein coding gene	Chr13:46796275-46819375 (+)
AKR/J	MGP_AKRJ_G0020469	protein coding gene	Chr13:48122037-48145147 (+)
BALB/cJ	MGP_BALBcJ_G0020488	protein coding gene	Chr13:47015975-47039075 (+)
C3H/HeJ	MGP_C3HHeJ_G0020287	protein coding gene	Chr13:47943765-47970548 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020921	protein coding gene	Chr13:49980546-50008334 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018506	protein coding gene	Chr13:44775052-44799049 (+)
CAST/EiJ	MGP_CASTEiJ_G0019802	protein coding gene	Chr13:47957422-47981574 (+)
CBA/J	MGP_CBAJ_G0020248	protein coding gene	Chr13:52053899-52082124 (+)
DBA/2J	MGP_DBA2J_G0020370	protein coding gene	Chr13:46327613-46350483 (+)
FVB/NJ	MGP_FVBNJ_G0020349	protein coding gene	Chr13:45848671-45872269 (+)
LP/J	MGP_LPJ_G0020445	protein coding gene	Chr13:48743418-48769432 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0020378	protein coding gene	Chr13:51752850-51778929 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020964	protein coding gene	Chr13:47819613-47842727 (+)
PWK/PhJ	MGP_PWKPhJ_G0019558	protein coding gene	Chr13:46513506-46537003 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0019386	protein coding gene	Chr13:46522459-46546931 (+)
WSB/EiJ	MGP_WSBEiJ_G0019864	protein coding gene	Chr13:48142418-48167386 (+)

Human Ortholog

ASPN, asporin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ASPN, asporin
Synonyms

OS3, PLAP-1, PLAP1, SLRR1C
Links

HGNC:14872

NCBI Gene ID: 54829

neXtProt AC: NX_Q9BXN1

UniProt: Q9BXN1
Chr Location

9q22.31; chr9:92456205-92482506 (-) GRCh38

MGI Vertebrate Homology

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

vertebrate homology predictions: ASPN
Protein SuperFamily

SLRP_I
Gene Tree

Aspn

Diseases

3 with human ASPN associations

				Human Disease	Mouse Models
				ankylosing spondylitis IDs ankylosing spondylitis DOID:7147 EFO:0003898 ICD10CM:M45 ICD9CM:720.0 MESH:D013167 NCI:C84564 OMIM:PS106300 ORDO:825 UMLS_CUI:C0038013
				degenerative disc disease IDs degenerative disc disease DOID:90 DOID:7943 EFO:0004994 NCI:C27156 UMLS_CUI:C0410606
				osteoarthritis IDs osteoarthritis DOID:8398 ICD9CM:715.3 UMLS_CUI:C0157946

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

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Phenotype Summary

13 phenotypes from 2 alleles in 2 genetic backgrounds
16 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

1
Targeted

7
Genomic Mutations

1 involving Aspn
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

28 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit increased skin mechanical toughness with altered glycosaminoglycan content and structure in the skin.

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All GO Annotations

21
GO References

11

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

784
Tissues

69
cDNA Data

35
Literature Summary

9

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase aspn

ZFIN aspn

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All Sequences

40
RefSeq

4
UniProt

3
CCDS

CCDS26503.1

Ensembl

ENSMUSG00000021388 (Evidence)
NCBI Gene

66695

			Length	Strain/Species	Flank
genomic	66695	NCBI Gene Model \| MGI Sequence Detail	23123	C57BL/6J	± kb
transcript	NM_025711	RefSeq \| MGI Sequence Detail	2362	C57BL/6
polypeptide	Q99MQ4	UniProt \| EBI \| MGI Sequence Detail	373	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000004382 asporin

(term hierarchy)
InterPro Domains

IPR001611 Leucine-rich repeat

IPR032675 Leucine-rich repeat domain superfamily

IPR000372 Leucine-rich repeat N-terminal domain

IPR003591 Leucine-rich repeat, typical subtype

IPR016352 Small leucine-rich proteoglycan, class I, decorin/asporin/byglycan

IPR050333 Small Leucine-Rich Proteoglycans
GlyGen

Q99MQ4 3 sites, 1 N-linked glycan (1 site), 1 O-linked glycan (1 site)

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All nucleic 37

cDNA 35

Other 2

Microarray probesets 4

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MGI:2145178

Summaries

All 61

Developmental Gene Expression 9

Gene Ontology 11

Phenotypes 16
Earliest

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

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

TSS for Aspn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr119711	Chr13:49697955-49698009 (+)	63 bp
Tssr119712	Chr13:49698101-49698112 (+)	188 bp
Tssr119713	Chr13:49702056-49702077 (+)	4,148 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