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Ddrgk1 Gene Detail
Summary
  • Symbol
    Ddrgk1
  • Name
    DDRGK domain containing 1
  • Synonyms
    1110001I20Rik, 2600009E05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924256
    NCBI Gene: 77006
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:130495955-130506549 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 2, 63.24 cM, cytoband F3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    237 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1924256
protein coding gene Chr2:130495880-130506579 (-)
129S1/SvImJ MGP_129S1SvImJ_G0026513
protein coding gene Chr2:134127041-134137565 (-)
A/J MGP_AJ_G0026477
protein coding gene Chr2:128694912-128705442 (-)
AKR/J MGP_AKRJ_G0026452
protein coding gene Chr2:132405905-132416433 (-)
BALB/cJ MGP_BALBcJ_G0026489
protein coding gene Chr2:129048987-129059785 (-)
C3H/HeJ MGP_C3HHeJ_G0026232
protein coding gene Chr2:132840782-132851324 (-)
C57BL/6NJ MGP_C57BL6NJ_G0026934
protein coding gene Chr2:138272330-138282867 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0024311
protein coding gene Chr2:123438985-123449704 (-)
CAST/EiJ MGP_CASTEiJ_G0025693
protein coding gene Chr2:133097479-133114489 (-)
CBA/J MGP_CBAJ_G0026212
protein coding gene Chr2:143390056-143400599 (-)
DBA/2J MGP_DBA2J_G0026346
protein coding gene Chr2:128081686-128092252 (-)
FVB/NJ MGP_FVBNJ_G0026310
protein coding gene Chr2:126714405-126724923 (-)
LP/J MGP_LPJ_G0026451
protein coding gene Chr2:134365763-134376287 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0026330
protein coding gene Chr2:147232644-147243151 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0026989
protein coding gene Chr2:132362183-132372707 (-)
PWK/PhJ MGP_PWKPhJ_G0025429
protein coding gene Chr2:127645566-127661038 (-)
SPRET/EiJ MGP_SPRETEiJ_G0025231
protein coding gene Chr2:131495694-131506347 (-)
WSB/EiJ MGP_WSBEiJ_G0025767
protein coding gene Chr2:133288296-133300622 (-)



Homology
more
  • Human Ortholog
    DDRGK1, DDRGK domain containing 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    DDRGK1, DDRGK domain containing 1
  • Synonyms
    C20orf116, dJ1187M17.3, SEMDSH, UFBP1
  • Links
    NCBI Gene ID: 65992
    neXtProt AC: NX_Q96HY6
    UniProt: Q96HY6

  • Chr Location
    20p13; chr20:3190350-3204685 (-)  GRCh38

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    23 phenotypes from 3 alleles in 4 genetic backgrounds
    19 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 lethality by E13.5 with impaired embryonic erythropoiesis. Embryos show delayed limb bud condrogenic condensation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 77006 NCBI Gene Model | MGI Sequence Detail 10595 C57BL/6J ±  kb
    transcript NR_184839 RefSeq | MGI Sequence Detail 1326 C57BL/6  
    polypeptide Q80WW9 UniProt | EBI | MGI Sequence Detail 315 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 101
      cDNA 101

      Microarray probesets 2
    Other
    Accession IDs
    less
    MGI:1915819, MGI:2138909
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 2
      Gene Ontology 11
      Phenotypes 19
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • 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)
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    Funding Information
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    last database update
    11/12/2024
    MGI 6.24
    The Jackson Laboratory