Bfsp1 MGI Mouse Gene Detail - MGI:101770 - beaded filament structural protein 1, in lens-CP94

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

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

SNPs within 2kb

1376 from dbSNP Build 142
Strain Annotations

18
RFLP

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

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

HGNC:1040

NCBI Gene ID: 631

neXtProt AC: NX_Q12934

UniProt: Q12934
Chr Location

20p12.1; chr20:17493905-17569220 (-) GRCh38

MGI Vertebrate Homology

Bfsp1 stringent orthology
1 human;1 mouse;1 rat
HCOP

vertebrate homology predictions: BFSP1
Gene Tree

Bfsp1

Diseases

1 with human BFSP1 associations

				Human Disease	Mouse Models
				cataract 33 IDs cataract 33 DOID:0110264 ICD10CM:Q12.0 OMIM:611391

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

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Phenotype Summary

6 phenotypes from 2 alleles in 2 genetic backgrounds
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

15
Chemically induced (other)

1
Endonuclease-mediated

2
Gene trapped

7
Radiation induced

1
Targeted

4
Genomic Mutations

2 involving Bfsp1
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

33 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mutations in this gene produce lens abnormalities progressing to cataracts.

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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.

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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

716
Tissues

8
cDNA Data

19
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bfsp1

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All Sequences

51
RefSeq

16
UniProt

1
CCDS

CCDS16811.1, CCDS71154.1

Ensembl

ENSMUSG00000027420 (Evidence)
NCBI Gene

12075

			Length	Strain/Species	Flank
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

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UniProt

1 Sequence
Protein Ontology

PR:000004733 filensin

(term hierarchy)
InterPro Domains

IPR042358 Filensin

IPR039008 Intermediate filament, rod domain

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All nucleic 32

Genomic 11

cDNA 20

Primer pair 1

Microarray probesets 3

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MGD-MRK-18577

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

TSS for Bfsp1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr26569	Chr2:143704853-143704870 (-)	231 bp
Tssr26568	Chr2:143702390-143702399 (-)	2,698 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 12/10/2024 MGI 6.24