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Fras1 Gene Detail
Summary
  • Symbol
    Fras1
  • Name
    Fraser extracellular matrix complex subunit 1
  • Synonyms
    bl, E130113P14Rik, mKIAA1500
  • Feature Type
    protein coding gene
  • IDs
    MGI:2385368
    NCBI Gene: 231470
  • Gene Overview
    MyGene.info: FRAS1
Location & Maps
more
  • Sequence Map
    Chr5:96373955-96784728 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      410774 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 47.29 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    FRAS1, Fraser extracellular matrix complex subunit 1
  • Vertebrate Orthologs
    8
  • Human Ortholog
    FRAS1, Fraser extracellular matrix complex subunit 1
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 80144
    neXtProt AC: NX_Q86XX4

  • Chr Location
    4q21.21; chr4:78056968-78544269 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Fras1 mouse models; 1 with human FRAS1 associations

Human Disease Mouse Models
       Fraser Syndrome   OMIM: 219000 View 5 models
       Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly; CCF   OMIM: 119800 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    51 phenotypes from 5 alleles in 8 genetic backgrounds
    5 phenotypes from multigenic genotypes
    9 images
    23 phenotype references
Phenotype Overview

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 (ENU)
    2
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    3
  • Genomic Mutations
    3 involving Fras1
  • Incidental Mutations
Mice homozygous for mutations at this locus display a significant amount of embryonic lethality due to hemorrhaging of embryonic blisters. Survival is variable on genetic backgrounds. Kidney development is severely affected and syndactyly is common.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000053289 VEGA Gene Model | MGI Sequence Detail 410774 C57BL/6J ±  kb
transcript OTTMUST00000133108 VEGA | MGI Sequence Detail 15848 Not Applicable  
polypeptide OTTMUSP00000070864 VEGA | MGI Sequence Detail 4010 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    4162 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 45
    cDNA 42
    Primer pair 2
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGD-MRK-1573, MGI:2442305, MGI:88167
References
more
  • Summaries
    All 51
    Developmental Gene Expression 24
    Diseases 5
    Gene Ontology 12
    Phenotypes 23
  • Earliest
    J:13501 Phillips RJS, Blebbed, bl. Mouse News Lett. 1970;42:26
  • Latest
    J:231949 San Agustin JT, et al., Genetic link between renal birth defects and congenital heart disease. Nat Commun. 2016;7:11103

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/20/2016
MGI 6.05
The Jackson Laboratory