Bbof1 MGI Mouse Gene Detail - MGI:1920123 - basal body orientation factor 1

Symbol

Bbof1
Name

basal body orientation factor 1
Synonyms

2900006K08Rik, Ccdc176

Feature Type

protein coding gene
IDs

MGI:1920123
NCBI Gene: 72873
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr12:84455243-84488279 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 39.20 cM, cytoband D3
Mapping Data

3 experiments

SNPs within 2kb

1510 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920123	protein coding gene	Chr12:84455243-84489661 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019936	protein coding gene	Chr12:85114497-85143049 (+)
A/J	MGP_AJ_G0019893	protein coding gene	Chr12:81893051-81917974 (+)
AKR/J	MGP_AKRJ_G0019869	protein coding gene	Chr12:84110324-84134962 (+)
BALB/cJ	MGP_BALBcJ_G0019873	protein coding gene	Chr12:82226060-82250807 (+)
C3H/HeJ	MGP_C3HHeJ_G0019679	protein coding gene	Chr12:84575370-84601104 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020324	protein coding gene	Chr12:87570700-87595243 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0017942	protein coding gene	Chr12:78793767-78818929 (+)
CAST/EiJ	MGP_CASTEiJ_G0019228	protein coding gene	Chr12:79530903-79555250 (+)
CBA/J	MGP_CBAJ_G0019650	protein coding gene	Chr12:90946303-90976832 (+)
DBA/2J	MGP_DBA2J_G0019765	protein coding gene	Chr12:81422045-81446583 (+)
FVB/NJ	MGP_FVBNJ_G0019751	protein coding gene	Chr12:80373852-80403300 (+)
LP/J	MGP_LPJ_G0019837	protein coding gene	Chr12:84995495-85022956 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019790	protein coding gene	Chr12:93858107-93885141 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020358	protein coding gene	Chr12:83704178-83728569 (+)
PWK/PhJ	MGP_PWKPhJ_G0018992	protein coding gene	Chr12:75911074-75937287 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018787	protein coding gene	Chr12:78196842-78224366 (+)
WSB/EiJ	MGP_WSBEiJ_G0019280	protein coding gene	Chr12:84419434-84446874 (+)

Human Ortholog

BBOF1, basal body orientation factor 1

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

BBOF1, basal body orientation factor 1
Synonyms

C14orf45, CCDC176, FBB10
Links

HGNC:19855

NCBI Gene ID: 80127

UniProt: Q8ND07
Chr Location

14q24.3; chr14:74019349-74082864 (+) GRCh38

MGI Vertebrate Homology

Bbof1 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: BBOF1
Gene Tree

Bbof1

less

Phenotype Summary

6 phenotypes from 1 allele in 1 genetic background
7 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

5
Chemically induced (other)

1
Endonuclease-mediated

2
Targeted

2
Genomic Mutations

1 involving Bbof1
Incidental Mutations

APF
Find Mice (IMSR)

24 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit male sterility, asthenozoospermia, and abnormal sperm flagellum morphology and function.

less

All GO Annotations

6
GO References

1

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

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.

less

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

706
cDNA Data

7

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase bbof1

less

All Sequences

52
RefSeq

12
UniProt

4
CCDS

CCDS36492.1

Ensembl

ENSMUSG00000057265 (Evidence)
NCBI Gene

72873

			Length	Strain/Species	Flank
genomic	72873	NCBI Gene Model \| MGI Sequence Detail	33037	C57BL/6J	± kb
transcript	NM_028377	RefSeq \| MGI Sequence Detail	2190	C57BL/6
polypeptide	Q3V079	UniProt \| EBI \| MGI Sequence Detail	533	Not Applicable

less

UniProt

4 Sequences
Protein Ontology

PR:000059958 basal body-orientation factor 1

(term hierarchy)
InterPro Domains

IPR032777 Domain of unknown function DUF4515

less

All nucleic 7

cDNA 7

Microarray probesets 4

less

MGI:2144815

Summaries

All 28

Gene Ontology 1

Phenotypes 7
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:343412 Cao H, et al., BBOF1 is required for sperm motility and male fertility by stabilizing the flagellar axoneme in mice. Cell Mol Life Sci. 2023 May 17;80(6):152

TSS for Bbof1:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr114341	Chr12:84455813-84455876 (+)	602 bp
Tssr114342	Chr12:84455880-84455902 (+)	648 bp
Tssr114343	Chr12:84455911-84455926 (+)	676 bp
Tssr114344	Chr12:84455940-84455950 (+)	702 bp
Tssr114345	Chr12:84457934-84457937 (+)	2,693 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 03/25/2025 MGI 6.24