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3425401B19Rik Gene Detail
Summary
  • Symbol
    3425401B19Rik
  • Name
    RIKEN cDNA 3425401B19 gene
  • Synonyms
    CEFIP
  • Feature Type
    protein coding gene
  • IDs
    MGI:3588196
    NCBI Gene: 100504518
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr14:32381076-32407250 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 14, 19.40 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    912 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3588196
 protein coding gene Chr14:32381075-32429787 (-)
129S1/SvImJ MGP_129S1SvImJ_G0021149
 protein coding gene Chr14:25917701-25951284 (-)
A/J MGP_AJ_G0021097
 protein coding gene Chr14:24928607-24955386 (-)
AKR/J MGP_AKRJ_G0021074
 protein coding gene Chr14:26084437-26110899 (-)
BALB/cJ MGP_BALBcJ_G0021101
 protein coding gene Chr14:25110325-25136229 (-)
C3H/HeJ MGP_C3HHeJ_G0020884
 protein coding gene Chr14:25960232-25986972 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021533
 protein coding gene Chr14:26942714-26971506 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0019095
 protein coding gene Chr14:24994940-25022525 (-)
CAST/EiJ MGP_CASTEiJ_G0020409
 protein coding gene Chr14:25769932-25797904 (-)
CBA/J MGP_CBAJ_G0020851
 protein coding gene Chr14:27950333-27981399 (-)
DBA/2J MGP_DBA2J_G0020973
 protein coding gene Chr14:24954208-24980220 (-)
FVB/NJ MGP_FVBNJ_G0020957
 protein coding gene Chr14:24921005-24947144 (-)
LP/J MGP_LPJ_G0021042
 protein coding gene Chr14:26236096-26264761 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020983
 protein coding gene Chr14:27152932-27179718 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021566
 protein coding gene Chr14:25876972-25902751 (-)
PWK/PhJ MGP_PWKPhJ_G0020157
 protein coding gene Chr14:24444608-24469988 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019981
 protein coding gene Chr14:25497016-25523812 (-)
WSB/EiJ MGP_WSBEiJ_G0020464
 protein coding gene Chr14:25936781-25964793 (-)



Homology
more
  • Human Ortholog
    C10orf71, chromosome 10 open reading frame 71
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    C10orf71, chromosome 10 open reading frame 71
  • Synonyms
    CEFIP
  • Links
    NCBI Gene ID: 118461
    neXtProt AC: NX_Q711Q0
    UniProt: Q711Q0

  • Chr Location
    10q11.23; chr10:49297050-49327492 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with 3425401B19Rik mouse models

Human Disease Mouse Models
      
IDs
 View 1 model
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
    25 phenotypes from 2 alleles in 2 genetic backgrounds
    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 null allele exhibit abnormal heart morphogenesis during development, partial postnatal lethality, development of dilated cardiomyopathy and cardiac dysfunction.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    6
  • GO References
    3
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.
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
    727
  • Tissues
    16
  • cDNA Data
    8
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000071540 Ensembl Gene Model | MGI Sequence Detail 26175 C57BL/6J ±  kb
    transcript ENSMUST00000096038 Ensembl | MGI Sequence Detail 5547 Not Applicable  
    polypeptide ENSMUSP00000093741 Ensembl | MGI Sequence Detail 1412 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 8
      Primer pair 1

      Microarray probesets 3
    References
    more
    • Summaries
      All 24
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 3
      Phenotypes 4
    • Earliest
      J:99680 The FANTOM Consortium and RIKEN Genome Exploration Research Group and Genome Science Group (Genome Network Project Core Group), The Transcriptional Landscape of the Mammalian Genome. Science. 2005;309(5740):1559-1563
    • Latest
      J:350467 Li Y, et al., Frameshift variants in C10orf71 cause dilated cardiomyopathy in human, mouse, and organoid models. J Clin Invest. 2024 Jun 17;134(12)
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory