F5 MGI Mouse Gene Detail - MGI:88382

Symbol

F5
Name

coagulation factor V
Synonyms

Cf-5, Cf5

Feature Type

protein coding gene
IDs

MGI:88382
NCBI Gene: 14067
Alliance

gene page
Transcription Start Sites

13 TSS

Sequence Map

Chr1:163979407-164047846 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 71.46 cM
Mapping Data

2 experiments

SNPs within 2kb

2056 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_88382	protein coding gene	Chr1:163979396-164048539 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016680	protein coding gene	Chr1:169578582-169652606 (+)
A/J	MGP_AJ_G0016661	protein coding gene	Chr1:162662677-162731477 (+)
AKR/J	MGP_AKRJ_G0016627	protein coding gene	Chr1:167599614-167668188 (+)
BALB/cJ	MGP_BALBcJ_G0016622	protein coding gene	Chr1:163162940-163232372 (+)
C3H/HeJ	MGP_C3HHeJ_G0016446	protein coding gene	Chr1:167789990-167861045 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0017083	protein coding gene	Chr1:175270226-175349395 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014792	protein coding gene	Chr1:154647283-154716315 (+)
CAST/EiJ	MGP_CASTEiJ_G0016026	protein coding gene	Chr1:167422010-167493196 (+)
CBA/J	MGP_CBAJ_G0016421	protein coding gene	Chr1:181514023-181593560 (+)
DBA/2J	MGP_DBA2J_G0016527	protein coding gene	Chr1:161558430-161629190 (+)
FVB/NJ	MGP_FVBNJ_G0016525	protein coding gene	Chr1:160008855-160078196 (+)
LP/J	MGP_LPJ_G0016598	protein coding gene	Chr1:170649161-170743212 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016550	protein coding gene	Chr1:189019701-189089742 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017119	protein coding gene	Chr1:167431067-167502004 (+)
PWK/PhJ	MGP_PWKPhJ_G0015812	protein coding gene	Chr1:160746892-160819170 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015599	protein coding gene	Chr1:166303036-166383779 (+)
WSB/EiJ	MGP_WSBEiJ_G0016088	protein coding gene	Chr1:167590969-167663020 (+)

Human Ortholog

F5, coagulation factor V

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

F5, coagulation factor V
Synonyms

FVL, PCCF, RPRGL1, THPH2
Links

HGNC:3542

NCBI Gene ID: 2153

neXtProt AC: NX_P12259

UniProt: P12259
Chr Location

1q24.2; chr1:169511951-169586588 (-) GRCh38

MGI Vertebrate Homology

F5 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: F5
Protein SuperFamily

Factors_V_VIII
Gene Tree

F5

Diseases

17 with human F5 associations

				Human Disease	Mouse Models
				breast cancer IDs breast cancer DOID:1612 DOID:1648 DOID:4241 ICD10CM:C50 ICD9CM:174.8 MESH:D001943 NCI:C9335 OMIM:114480 UMLS_CUI:C0006142
				Budd-Chiari syndrome IDs Budd-Chiari syndrome DOID:11512 ICD10CM:I82.0 MESH:D006502 OMIM:600880 UMLS_CUI:C0019154
				cerebral infarction IDs cerebral infarction DOID:3526 ICD10CM:I63 MESH:D002544 NCI:C50486 OMIM:601367 UMLS_CUI:C0007785
				end stage renal disease IDs end stage renal disease DOID:783
				factor V deficiency IDs factor V deficiency DOID:2216 ICD10CM:D68.2 MESH:D005166 NCI:C98938 OMIM:227400 UMLS_CUI:C0015499
				hypereosinophilic syndrome IDs hypereosinophilic syndrome DOID:999 ICD10CM:D72.1 ICD9CM:288.3 MESH:D004802 ORDO:168956 UMLS_CUI:C0014457
				liver cirrhosis IDs liver cirrhosis DOID:5082 EFO:0001422 ICD10CM:K74.60 MESH:D008103 NCI:C2951 UMLS_CUI:C0023890
				myocardial infarction IDs myocardial infarction DOID:5844 EFO:0000612 ICD10CM:I21 MESH:D009203 NCI:C27996 OMIM:608557 UMLS_CUI:C0027051
				non-arteritic anterior ischemic optic neuropathy IDs non-arteritic anterior ischemic optic neuropathy DOID:0050864
				osteonecrosis IDs osteonecrosis DOID:10159 DOID:10160 DOID:10161 DOID:10162 DOID:10163 DOID:10164 DOID:4128 DOID:8380 DOID:86 ICD10CM:M87 ICD10CM:M87.9 ICD9CM:732.3 ICD9CM:733.41 ICD9CM:733.42 ICD9CM:733.43 ICD9CM:733.44 ICD9CM:733.49 MESH:D010020 NCI:C34404 NCI:C34841 NCI:C34880 NCI:C35226 NCI:C35517 UMLS_CUI:C0003977 UMLS_CUI:C0027543 UMLS_CUI:C0029445 UMLS_CUI:C0158442 UMLS_CUI:C0158449 UMLS_CUI:C0158450 UMLS_CUI:C0158451 UMLS_CUI:C0745048
				pre-eclampsia IDs pre-eclampsia DOID:10591 DOID:12684 ICD10CM:O14 MESH:D011225 NCI:C85021 OMIM:189800 OMIM:609402 OMIM:609403 OMIM:609404 OMIM:614592 ORDO:275555 UMLS_CUI:C0032914
				pulmonary embolism IDs pulmonary embolism DOID:9477 ICD10CM:I26 MESH:D011655 NCI:C50713 UMLS_CUI:C0034065
				pulmonary hypertension IDs pulmonary hypertension DOID:6432 ICD10CM:I27.20 MESH:D006976 NCI:C3120 UMLS_CUI:C0020542
				retinal vein occlusion IDs retinal vein occlusion DOID:1727 MESH:D012170 NCI:C34981 UMLS_CUI:C0035328
				sensorineural hearing loss IDs sensorineural hearing loss DOID:10003 DOID:11053 DOID:12112 DOID:12114 ICD10CM:H90.5 ICD9CM_2006:389.11 ICD9CM_2006:389.14 ICD9CM:389.1 ICD9CM:389.10 ICD9CM:389.14 MESH:D006319 NCI:C26739 UMLS_CUI:C0018784
				thrombophilia due to activated protein C resistance IDs thrombophilia due to activated protein C resistance DOID:0111902 MESH:C566056 OMIM:188055 UMLS_CUI:C1861171
				thrombosis IDs thrombosis DOID:0060903 MESH:D013927

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

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Phenotype Summary

16 phenotypes from 2 alleles in 5 genetic backgrounds
13 phenotypes from multigenic genotypes
34 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

12
Chemically induced (other)

2
Endonuclease-mediated

1
Targeted

6
Transgenic

3
Genomic Mutations

2 involving F5
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

159 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis.

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All GO Annotations

12
GO References

8

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

738
Tissues

13
cDNA Data

46
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 f5

ZFIN f5

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All Sequences

35
RefSeq

2
UniProt

2
CCDS

CCDS35754.1

Ensembl

ENSMUSG00000026579 (Evidence)
NCBI Gene

14067

			Length	Strain/Species	Flank
genomic	ENSMUSG00000026579	Ensembl Gene Model \| MGI Sequence Detail	68440	C57BL/6J	± kb
transcript	ENSMUST00000086040	Ensembl \| MGI Sequence Detail	7430	Not Applicable
polypeptide	ENSMUSP00000083204	Ensembl \| MGI Sequence Detail	2183	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000007300 coagulation factor V

(term hierarchy)
InterPro Domains

IPR000421 Coagulation factor 5/8 C-terminal domain

IPR024715 Coagulation factor 5/8-like

IPR008972 Cupredoxin

IPR008979 Galactose-binding-like domain superfamily

IPR011707 Multicopper oxidase-like, N-terminal

IPR033138 Multicopper oxidases, conserved site

IPR050633 Neuropilin/Multicopper Oxidase/Coagulation Factor
GlyGen

O88783 17 sites, 6 N-linked glycans (11 sites), 1 O-linked glycan (1 site)

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All nucleic 50

Genomic 2

cDNA 47

Primer pair 1

Microarray probesets 4

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MGD-MRK-1948, MGD-MRK-1954, MGI:2138166

Summaries

All 68

Developmental Gene Expression 3

Gene Ontology 8

Phenotypes 34
Earliest

J:9416 Dahlback B, et al., Assignment of gene for coagulation factor V to chromosome 1 in man and to chromosome 13 in rat. Somat Cell Mol Genet. 1988 Sep;14(5):509-14
Latest

J:337801 Marar TT, et al., Thrombin spatial distribution determines protein C activation during hemostasis and thrombosis. Blood. 2022 Mar 24;139(12):1892-1902

TSS for F5:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr9757	Chr1:163979135-163979160 (+)	-259 bp
Tssr9758	Chr1:163979288-163979301 (+)	-112 bp
Tssr9759	Chr1:163979372-163979383 (+)	-29 bp
Tssr9760	Chr1:163979384-163979431 (+)	1 bp
Tssr9761	Chr1:163979440-163979451 (+)	39 bp
Tssr9762	Chr1:163979457-163979466 (+)	55 bp
Tssr9763	Chr1:163979592-163979613 (+)	196 bp
Tssr9764	Chr1:164009274-164009284 (+)	29,872 bp
Tssr9765	Chr1:164020611-164020622 (+)	41,210 bp
Tssr9766	Chr1:164020630-164020639 (+)	41,228 bp
Tssr9767	Chr1:164020936-164020946 (+)	41,534 bp
Tssr9768	Chr1:164021010-164021034 (+)	41,615 bp
Tssr9769	Chr1:164047582-164047586 (+)	68,177 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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