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Bbs10 Gene Detail
Summary
  • Symbol
    Bbs10
  • Name
    Bardet-Biedl syndrome 10
  • Synonyms
    1300007O09Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919019
    NCBI Gene: 71769
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr10:111134540-111137588 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 10, 58.46 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    179 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1919019
 protein coding gene Chr10:111134540-111137597 (+)
129S1/SvImJ ENSMUSG00200010040
 protein coding gene Chr10:107552106-107555314 (+)
A/J ENSMUSG00195008358
 protein coding gene Chr10:107967173-107975161 (+)
AKR/J ENSMUSG00220024756
 protein coding gene Chr10:107548876-107552084 (+)
BALB/cJ ENSMUSG00180023662
 protein coding gene Chr10:107986666-107994654 (+)
C3H/HeJ ENSMUSG00175015511
 protein coding gene Chr10:107915148-107923078 (+)
C57BL/6NJ ENSMUSG00215009505
 protein coding gene Chr10:107638069-107645999 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015797
 protein coding gene Chr10:104242595-104245621 (+)
CAST/EiJ ENSTCUG00005011477
 protein coding gene Chr10:107012164-107015328 (+)
CBA/J ENSMUSG00210011400
 protein coding gene Chr10:107786474-107794462 (+)
DBA/2J ENSMUSG00185023718
 protein coding gene Chr10:107915702-107918866 (+)
FVB/NJ ENSMUSG00205010522
 protein coding gene Chr10:107409836-107417825 (+)
JF1/MsJ ENSUMUG00000009512
 protein coding gene Chr10:109236350-109242467 (+)
LP/J ENSMUSG00230012871
 protein coding gene Chr10:109861110-109869040 (+)
NOD/ShiLtJ ENSMUSG00190019995
 protein coding gene Chr10:108014198-108022128 (+)
NZO/HlLtJ ENSMUSG00225017290
 protein coding gene Chr10:114115343-114123331 (+)
PWK/PhJ ENSLUMG00010013562
 protein coding gene Chr10:107620541-107638861 (+)
SPRET/EiJ ENSMSPG00010005556
 protein coding gene Chr10:109434018-109440350 (+)
WSB/EiJ ENSIUOG00005010060
 protein coding gene Chr10:107684581-107698302 (+)



Homology
more
  • Human Ortholog
    BBS10, Bardet-Biedl syndrome 10
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    BBS10, Bardet-Biedl syndrome 10
  • Synonyms
    C12orf58
  • Links
    NCBI Gene ID: 79738
    UniProt: Q8TAM1

  • Chr Location
    12q21.2; chr12:76344474-76348437 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with Bbs10 mouse models; 2 with human BBS10 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    26 phenotypes from 3 alleles in 2 genetic backgrounds
    22 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.
Mice homozygous for a knock-out allele develop obesity, hyperleptinemia, retinal degeneration, structural defects in renal glomeruli, microalbuminuria, polyuria, increased circulating antidiuretic hormone levels, and vacuolated renal epithelial cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    24
  • GO References
    11
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
    615
  • Tissues
    18
  • cDNA Data
    9
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000035759 Ensembl Gene Model | MGI Sequence Detail 3049 C57BL/6J ±  kb
    transcript ENSMUST00000040454 Ensembl | MGI Sequence Detail 2744 Not Applicable  
    polypeptide ENSMUSP00000049387 Ensembl | MGI Sequence Detail 713 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000004664 BBSome complex assembly protein BBS10
      (term hierarchy)
    • InterPro Domains
      IPR042619 BBSome complex assembly protein BBS10
      IPR002423 Chaperonin Cpn60/GroEL/TCP-1 family
      IPR027409 GroEL-like apical domain superfamily
      IPR027413 GroEL-like equatorial domain superfamily
      IPR027410 TCP-1-like chaperonin intermediate domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 9

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2143615
    References
    more
    • Summaries
      All 51
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 11
      Phenotypes 22
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:380712 Rankin TJ, et al., N-Acetylcysteine Ameliorates Loss of the Electroretinogram b-wave in a Bardet-Biedl Syndrome Type 10 Mouse Model. J Exp Neurol. 2025;6(1):49-63
    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
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    Send questions and comments to User Support.     		last database update
    09/01/2026
    MGI 6.24     		The Jackson Laboratory