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Casc3 Gene Detail
Summary
  • Symbol
    Casc3
  • Name
    exon junction complex subunit
  • Synonyms
    Btz, Mln51
  • Feature Type
    protein coding gene
  • IDs
    MGI:2179723
    NCBI Gene: 192160
  • Alliance
    genome feature page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:98700634-98724633 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 62.68 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    605 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2179723
 protein coding gene Chr11:98695731-98724640 (+)
129S1/SvImJ ENSMUSG00200052897
 protein coding gene Chr11:95962182-95986062 (+)
A/J ENSMUSG00195046611
 protein coding gene Chr11:95670734-95694873 (+)
AKR/J ENSMUSG00220050234
 protein coding gene Chr11:95929797-95953943 (+)
BALB/cJ ENSMUSG00180049299
 protein coding gene Chr11:95942455-95966598 (+)
C3H/HeJ ENSMUSG00175046630
 protein coding gene Chr11:95935737-95959618 (+)
C57BL/6NJ ENSMUSG00215053353
 protein coding gene Chr11:95518794-95542935 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0017099
 protein coding gene Chr11:94725599-94749347 (+)
CAST/EiJ ENSTCUG00005045587
 protein coding gene Chr11:95448401-95472333 (+)
CBA/J ENSMUSG00210051989
 protein coding gene Chr11:95632714-95656848 (+)
DBA/2J ENSMUSG00185048985
 protein coding gene Chr11:95985666-96009544 (+)
FVB/NJ ENSMUSG00205044313
 protein coding gene Chr11:95852594-95876477 (+)
JF1/MsJ ENSUMUG00000032335
 protein coding gene Chr11:96279889-96303628 (+)
LP/J ENSMUSG00230049997
 protein coding gene Chr11:97038554-97062432 (+)
NOD/ShiLtJ ENSMUSG00190048348
 protein coding gene Chr11:96020437-96044578 (+)
NZO/HlLtJ ENSMUSG00225051292
 protein coding gene Chr11:99081486-99105621 (+)
PWK/PhJ ENSLUMG00010051209
 protein coding gene Chr11:95830485-95854438 (+)
SPRET/EiJ ENSMSPG00010045062
 protein coding gene Chr11:96359006-96380685 (+)
WSB/EiJ ENSIUOG00005049191
 protein coding gene Chr11:95789957-95814100 (+)



Homology
more
  • Human Ortholog
    CASC3, CASC3 exon junction complex subunit
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CASC3, CASC3 exon junction complex subunit
  • Synonyms
    BTZ, MLN51
  • Links
    NCBI Gene ID: 22794
    UniProt: O15234

  • Chr Location
    17q21.1; chr17:40140278-40177001 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 3 alleles in 5 genetic backgrounds
    1 images
    18 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.
Homozygous null mice show decreased embryo size and embryonic lethality. Homozygotes for one knock-out allele exhibit absent primitive node and head folds, and failure to gastrulate. Homozygotes for a hypomorphic allele show delayed fetal growth and limb development and complete lethality during fetal growth through weaning.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    55
  • 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
    809
  • Tissues
    74
  • cDNA Data
    118
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 192160 NCBI Gene Model | MGI Sequence Detail 24000 C57BL/6J ±  kb
    transcript NM_138660 RefSeq | MGI Sequence Detail 3764 C57BL/6  
    polypeptide Q8K3W3 UniProt | EBI | MGI Sequence Detail 698 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 121
      cDNA 119
      Primer pair 2
      Antibodies 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 50
      Developmental Gene Expression 4
      Gene Ontology 11
      Phenotypes 18
    • Earliest
      J:56548 Zheng B, et al., Engineering a mouse balancer chromosome. Nat Genet. 1999 Aug;22(4):375-8
    • 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)
    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