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Wdr48 Gene Detail
Summary
  • Symbol
    Wdr48
  • Name
    WD repeat domain 48
  • Synonyms
    8430408H12Rik, Uaf1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914811
    NCBI Gene: 67561
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:119723961-119755652 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 9, 71.33 cM, cytoband F4
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    872 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914811
 protein coding gene Chr9:119723944-119755653 (+)
129S1/SvImJ ENSMUSG00200025312
 protein coding gene Chr9:116844921-116876619 (+)
A/J ENSMUSG00195027531
 protein coding gene Chr9:116025779-116057483 (+)
AKR/J ENSMUSG00220017945
 protein coding gene Chr9:116481913-116513618 (+)
BALB/cJ ENSMUSG00180028425
 protein coding gene Chr9:116563094-116594791 (+)
C3H/HeJ ENSMUSG00175018910
 protein coding gene Chr9:116806407-116838106 (+)
C57BL/6NJ ENSMUSG00215018760
 protein coding gene Chr9:116676190-116707899 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032806
 protein coding gene Chr9:115310783-115345038 (+)
CAST/EiJ ENSTCUG00005015719
 protein coding gene Chr9:116433809-116465646 (+)
CBA/J ENSMUSG00210031707
 protein coding gene Chr9:116520791-116552495 (+)
DBA/2J ENSMUSG00185016384
 protein coding gene Chr9:116855017-116886727 (+)
FVB/NJ ENSMUSG00205016112
 protein coding gene Chr9:116694605-116726304 (+)
JF1/MsJ ENSUMUG00000028220
 protein coding gene Chr9:116710164-116742136 (+)
LP/J ENSMUSG00230037574
 protein coding gene Chr9:116973257-117004953 (+)
NOD/ShiLtJ ENSMUSG00190013296
 protein coding gene Chr9:116454653-116486360 (+)
NZO/HlLtJ ENSMUSG00225023217
 protein coding gene Chr9:117237839-117269540 (+)
PWK/PhJ ENSLUMG00010032736
 protein coding gene Chr9:116604389-116636414 (+)
SPRET/EiJ ENSMSPG00010019504
 protein coding gene Chr9:118303492-118335204 (+)
WSB/EiJ ENSIUOG00005021094
 protein coding gene Chr9:115908864-115940577 (+)



Homology
more
  • Human Ortholog
    WDR48, WD repeat domain 48
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    WDR48, WD repeat domain 48
  • Synonyms
    Bun62, P80, SPG60, UAF1
  • Links
    NCBI Gene ID: 57599
    UniProt: Q8TAF3

  • Chr Location
    3p22.2; chr3:39051999-39096671 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 1 allele in 1 genetic background
    4 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 exhibit embryonic lethality prior to E10.5 with reduced embryonic growth. Mice heterozygous for this allele exhibit reduced weight at birth, skeletal defects and reduced female and male fertility.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • GO References
    7
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
    603
  • Tissues
    1
  • cDNA Data
    15
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 67561 NCBI Gene Model | MGI Sequence Detail 31692 C57BL/6J ±  kb
    transcript NR_184638 RefSeq | MGI Sequence Detail 4046 C57BL/6  
    polypeptide Q8BH57 UniProt | EBI | MGI Sequence Detail 676 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 16
      Antibodies 1

      Microarray probesets 8
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 2
      Gene Ontology 7
      Phenotypes 4
    • 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:389864 Murata K, et al., A novel miniTurbo knock-in mouse reveals a protein interaction network of USP46 in the brain. Exp Anim. 2026 Jan 1;75(1):63-72
    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
    09/08/2026
    MGI 6.24     		The Jackson Laboratory