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Efcc1 Gene Detail
Summary
  • Symbol
    Efcc1
  • Name
    EF hand and coiled-coil domain containing 1
  • Synonyms
    AB041550, Ccdc48
  • Feature Type
    protein coding gene
  • IDs
    MGI:3611451
    NCBI Gene: 58229
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:87707851-87732890 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 39.02 cM, cytoband D2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    151 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3611451
 protein coding gene Chr6:87707577-87739410 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030996
 protein coding gene Chr6:89091968-89117823 (+)
A/J MGP_AJ_G0030962
 protein coding gene Chr6:85652235-85677467 (+)
AKR/J MGP_AKRJ_G0030893
 protein coding gene Chr6:88130792-88157557 (+)
BALB/cJ MGP_BALBcJ_G0030975
 protein coding gene Chr6:85649998-85677105 (+)
C3H/HeJ MGP_C3HHeJ_G0030735
 protein coding gene Chr6:96316924-96342060 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031432
 protein coding gene Chr6:91476281-91509112 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028616
 protein coding gene Chr6:83828935-83832081 (+)
CAST/EiJ MGP_CASTEiJ_G0030084
 protein coding gene Chr6:88215945-88241049 (+)
CBA/J MGP_CBAJ_G0030659
 protein coding gene Chr6:95021366-95049116 (+)
DBA/2J MGP_DBA2J_G0030815
 protein coding gene Chr6:84953849-84978860 (+)
FVB/NJ MGP_FVBNJ_G0030768
 protein coding gene Chr6:84139980-84165420 (+)
LP/J MGP_LPJ_G0030892
 protein coding gene Chr6:89110892-89137427 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030801
 protein coding gene Chr6:99157842-99182882 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031459
 protein coding gene Chr6:87979748-88010844 (+)
PWK/PhJ MGP_PWKPhJ_G0029799
 protein coding gene Chr6:83922249-83948257 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029627
 protein coding gene Chr6:86799441-86827467 (+)
WSB/EiJ MGP_WSBEiJ_G0030165
 protein coding gene Chr6:88437827-88463225 (+)



Homology
more
  • Human Ortholog
    EFCC1, EF-hand and coiled-coil domain containing 1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EFCC1, EF-hand and coiled-coil domain containing 1
  • Synonyms
    C3orf73, CCDC48
  • Links
    NCBI Gene ID: 79825
    neXtProt AC: NX_Q9HA90
    UniProt: Q9HA90

  • Chr Location
    3q21.3; chr3:129001304-129040742 (+)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    2 phenotypes from 1 allele in 1 genetic background
    7 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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    1
  • GO References
    1
Molecular Function

Biological Process

No experimental evidence to support Biological Process annotation, following literature review. See J:73796.
Cellular Component

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
    706
  • cDNA Data
    4
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000068263 Ensembl Gene Model | MGI Sequence Detail 25040 C57BL/6J ±  kb
transcript ENSMUST00000032132 Ensembl | MGI Sequence Detail 2729 Not Applicable  
polypeptide ENSMUSP00000032132 Ensembl | MGI Sequence Detail 559 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 6
    Genomic 2
    cDNA 4
Other
Accession IDs
less
MGI:1931020
References
more
  • Summaries
    All 23
    Gene Ontology 1
    Phenotypes 7
  • Earliest
    J:87486 Akeson EC, Chromosomal inversion discovered in C3H/HeJ mice. JAX Notes. 2003;491:15
  • Latest
    J:330636 Iwata S, et al., An efficient i-GONAD method for creating and maintaining lethal mutant mice using an inversion balancer identified from the C3H/HeJJcl strain. G3 (Bethesda). 2021;11(8)
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
04/16/2024
MGI 6.23 		The Jackson Laboratory