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Bfsp1 Gene Detail
Summary
  • Symbol
    Bfsp1
  • Name
    beaded filament structural protein 1, in lens-CP94
  • Synonyms
    filensin
  • Feature Type
    protein coding gene
  • IDs
    MGI:101770
    NCBI Gene: 12075
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:143668448-143705093 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 70.89 cM, cytoband G
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1376 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_101770
 protein coding gene Chr2:143668448-143757320 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026577
 protein coding gene Chr2:147860027-147902894 (-)
A/J MGP_AJ_G0026541
 protein coding gene Chr2:141901157-141937768 (-)
AKR/J MGP_AKRJ_G0026515
 protein coding gene Chr2:145968795-146007373 (-)
BALB/cJ MGP_BALBcJ_G0026553
 protein coding gene Chr2:142333042-142370720 (-)
C3H/HeJ MGP_C3HHeJ_G0026296
 protein coding gene Chr2:146504640-146546837 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026998
 protein coding gene Chr2:152313212-152365010 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024375
 protein coding gene Chr2:136096346-136131818 (-)
CAST/EiJ MGP_CASTEiJ_G0025757
 protein coding gene Chr2:146831851-146871183 (-)
CBA/J MGP_CBAJ_G0026276
 protein coding gene Chr2:157865957-157905419 (-)
DBA/2J MGP_DBA2J_G0026410
 protein coding gene Chr2:141191273-141230287 (-)
FVB/NJ MGP_FVBNJ_G0026374
 protein coding gene Chr2:139776629-139813688 (-)
LP/J MGP_LPJ_G0026514
 protein coding gene Chr2:148040723-148081500 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026394
 protein coding gene Chr2:162092129-162134968 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027053
 protein coding gene Chr2:145965571-146006945 (-)
PWK/PhJ MGP_PWKPhJ_G0025493
 protein coding gene Chr2:140838110-140875189 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025294
 protein coding gene Chr2:145014864-145052680 (-)
WSB/EiJ MGP_WSBEiJ_G0025830
 protein coding gene Chr2:146976747-147018154 (-)



Homology
more
  • Human Ortholog
    BFSP1, beaded filament structural protein 1
  • Vertebrate Orthologs
    2
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BFSP1, beaded filament structural protein 1
  • Synonyms
    CP115, CP94, CTRCT33, LIFL-H
  • Links
    NCBI Gene ID: 631
    neXtProt AC: NX_Q12934
    UniProt: Q12934

  • Chr Location
    20p12.1; chr20:17493905-17569220 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human BFSP1 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotypes from 2 alleles in 2 genetic backgrounds
    15 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.
Mutations in this gene produce lens abnormalities progressing to cataracts.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    13
  • 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.
Expression
less
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
    716
  • Tissues
    8
  • cDNA Data
    19
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027420 Ensembl Gene Model | MGI Sequence Detail 36646 C57BL/6J ±  kb
    transcript ENSMUST00000099296 Ensembl | MGI Sequence Detail 2160 Not Applicable  
    polypeptide ENSMUSP00000096899 Ensembl | MGI Sequence Detail 669 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 11
      cDNA 20
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-18577
    References
    more
    • Summaries
      All 56
      Developmental Gene Expression 15
      Gene Ontology 8
      Phenotypes 15
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    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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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory