Serpinc1 MGI Mouse Gene Detail - MGI:88095 - serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1

Symbol

Serpinc1
Name

serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1
Synonyms

antithrombin, At-3, At3, ATIII

Feature Type

protein coding gene
IDs

MGI:88095
NCBI Gene: 11905
Alliance

genome feature page
Transcription Start Sites

21 TSS

Sequence Map

Chr1:160806153-160830113 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 69.75 cM
Mapping Data

35 experiments

SNPs within 2kb

713 from dbSNP Build 142
Strain Annotations

19
RFLP

3

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88095	protein coding gene	Chr1:160806153-160833433 (+)
129S1/SvImJ	ENSMUSG00200005602	protein coding gene	Chr1:158309193-158330438 (+)
A/J	ENSMUSG00195021581	protein coding gene	Chr1:157625740-157655200 (+)
AKR/J	ENSMUSG00220012801	protein coding gene	Chr1:157425100-157446021 (+)
BALB/cJ	ENSMUSG00180034748	protein coding gene	Chr1:157866821-157888346 (+)
C3H/HeJ	ENSMUSG00175036106	protein coding gene	Chr1:157936047-157965651 (+)
C57BL/6NJ	ENSMUSG00215031950	protein coding gene	Chr1:157833382-157854282 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014757	protein coding gene	Chr1:151579066-151606053 (+)
CAST/EiJ	ENSTCUG00005020478	protein coding gene	Chr1:156467334-156488095 (+)
CBA/J	ENSMUSG00210021091	protein coding gene	Chr1:157842169-157863414 (+)
DBA/2J	ENSMUSG00185040886	protein coding gene	Chr1:162084943-162106485 (+)
FVB/NJ	ENSMUSG00205009347	protein coding gene	Chr1:156927524-156948426 (+)
JF1/MsJ	ENSUMUG00000020687	protein coding gene	Chr1:161245689-161267228 (+)
LP/J	ENSMUSG00230014467	protein coding gene	Chr1:161710592-161731834 (+)
NOD/ShiLtJ	ENSMUSG00190032124	protein coding gene	Chr1:157671969-157692874 (+)
NZO/HlLtJ	ENSMUSG00225004130	protein coding gene	Chr1:165321296-165342169 (+)
PWK/PhJ	ENSLUMG00010035412	protein coding gene	Chr1:156630778-156652296 (+)
SPRET/EiJ	ENSMSPG00010041129	protein coding gene	Chr1:160034766-160058590 (+)
WSB/EiJ	ENSIUOG00005015088	protein coding gene	Chr1:157222719-157250913 (+)

Human Ortholog

SERPINC1, serpin family C member 1

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

SERPINC1, serpin family C member 1
Synonyms

AT3, AT3D, ATIII, ATIII-R2, ATIII-T1, ATIII-T2, THPH7
Links

HGNC:775

NCBI Gene ID: 462

UniProt: P01008
Chr Location

1q25.1; chr1:173903519-173917543 (-) GRCh38

MGI Vertebrate Homology

Serpinc1 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: SERPINC1
Gene Tree

Serpinc1

Diseases

1 with Serpinc1 mouse models; 5 with human SERPINC1 associations

Human Disease

Mouse Models

antithrombin III deficiency

IDs

View 1 model

disseminated intravascular coagulation

IDs

intermediate coronary syndrome

IDs

thrombosis

IDs

toxic shock syndrome

IDs

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

Mutations/Alleles

1 with disease annotations

References

1 with disease annotations

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Phenotype Summary

33 phenotypes from 3 alleles in 3 genetic backgrounds
3 images
15 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

19
Chemically induced (other)

2
Endonuclease-mediated

4
Gene trapped

8
Targeted

5
Genomic Mutations

2 involving Serpinc1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

29 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Homozygotes for a targeted null mutation exhibit extensive subcutaneous hemorrhage, fibrin deposits in the myocardium and liver, and lethality by embryonic day 16.5. Heterozygotes challenged with lipopolysaccharide show increased fibrin deposits.

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All GO Annotations

17
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

633
Tissues

13
cDNA Data

221
Literature Summary

6

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase serpinc1

ZFIN serpinc1

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All Sequences

63
RefSeq

12
UniProt

7
CCDS

CCDS15411.1

Ensembl

ENSMUSG00000026715 (Evidence)
NCBI Gene

11905

			Length	Strain/Species	Flank
genomic	11905	NCBI Gene Model \| MGI Sequence Detail	23961	C57BL/6J	± kb
transcript	NM_080844	RefSeq \| MGI Sequence Detail	1710	ZRU/MplStud
polypeptide	P32261	UniProt \| EBI \| MGI Sequence Detail	465	Not Applicable

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UniProt

7 Sequences
Protein Ontology

PR:000003252 antithrombin-III

(term hierarchy)
InterPro Domains

IPR033829 Antithrombin-III, serpin domain

IPR023795 Serpin, conserved site

IPR023796 Serpin domain

IPR000215 Serpin family

IPR036186 Serpin superfamily

IPR042178 Serpin superfamily, domain 1

IPR042185 Serpin superfamily, domain 2
GlyGen

P32261 5 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

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All nucleic 224

cDNA 222

Primer pair 2

Antibodies 2

Microarray probesets 3

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MGD-MRK-1442, MGD-MRK-1443, MGI:2138155

Summaries

All 82

Developmental Gene Expression 6

Diseases 1

Gene Ontology 7

Phenotypes 15
Earliest

J:9067 Seldin MF, et al., Genetic analysis of autoimmune gld mice. I. Identification of a restriction fragment length polymorphism closely linked to the gld mutation within a conserved linkage group. J Exp Med. 1988 Feb 1;167(2):688-93
Latest

J:326541 Cyagen Biosciences Inc., Cyagen Biosciences Website. 2022;

TSS for Serpinc1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr9651	Chr1:160806146-160806160 (+)	0 bp
Tssr9652	Chr1:160806177-160806188 (+)	30 bp
Tssr9653	Chr1:160806195-160806226 (+)	58 bp
Tssr9654	Chr1:160806229-160806234 (+)	79 bp
Tssr9655	Chr1:160806240-160806250 (+)	92 bp
Tssr9656	Chr1:160814673-160814687 (+)	8,527 bp
Tssr261	Chr1:160814692-160814701 (+)	8,544 bp
Tssr9657	Chr1:160815052-160815088 (+)	8,917 bp
Tssr9658	Chr1:160816501-160816512 (+)	10,354 bp
Tssr9659	Chr1:160816942-160816958 (+)	10,797 bp
Tssr9660	Chr1:160816978-160817000 (+)	10,836 bp
Tssr9661	Chr1:160817042-160817052 (+)	10,894 bp
Tssr9662	Chr1:160817064-160817082 (+)	10,920 bp
Tssr9663	Chr1:160817114-160817131 (+)	10,970 bp
Tssr9664	Chr1:160817141-160817158 (+)	10,997 bp
Tssr9665	Chr1:160817160-160817197 (+)	11,026 bp
Tssr9666	Chr1:160817219-160817252 (+)	11,083 bp
Tssr9667	Chr1:160817265-160817272 (+)	11,116 bp
Tssr9668	Chr1:160825204-160825219 (+)	19,059 bp
Tssr9669	Chr1:160825652-160825657 (+)	19,502 bp
Tssr9670	Chr1:160829396-160829400 (+)	23,245 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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