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Primpol Gene Detail
Summary
  • Symbol
    Primpol
  • Name
    primase and polymerase (DNA-directed)
  • Synonyms
    Ccdc111
  • Feature Type
    protein coding gene
  • IDs
    MGI:3603756
    NCBI Gene: 408022
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr8:47028629-47070247 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 8, 26.39 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1256 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_3603756
 protein coding gene Chr8:47028614-47070282 (-)
129S1/SvImJ MGP_129S1SvImJ_G0033590
 protein coding gene Chr8:45679622-45724953 (-)
A/J MGP_AJ_G0033572
 protein coding gene Chr8:43929732-43977997 (-)
AKR/J MGP_AKRJ_G0033497
 protein coding gene Chr8:45214566-45257274 (-)
BALB/cJ MGP_BALBcJ_G0033569
 protein coding gene Chr8:44099469-44141442 (-)
C3H/HeJ MGP_C3HHeJ_G0033278
 protein coding gene Chr8:45742741-45784252 (-)
C57BL/6NJ MGP_C57BL6NJ_G0034085
 protein coding gene Chr8:47413871-47457762 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0031034
 protein coding gene Chr8:40167179-40210008 (-)
CAST/EiJ MGP_CASTEiJ_G0032604
 protein coding gene Chr8:45174894-45223952 (-)
CBA/J MGP_CBAJ_G0033257
 protein coding gene Chr8:49302474-49345456 (-)
DBA/2J MGP_DBA2J_G0033410
 protein coding gene Chr8:43724236-43767587 (-)
FVB/NJ MGP_FVBNJ_G0033351
 protein coding gene Chr8:43200014-43245665 (-)
LP/J MGP_LPJ_G0033498
 protein coding gene Chr8:45698728-45740619 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0033396
 protein coding gene Chr8:49398636-49442027 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0034103
 protein coding gene Chr8:45368236-45409718 (-)
PWK/PhJ MGP_PWKPhJ_G0032312
 protein coding gene Chr8:43248083-43295133 (-)
SPRET/EiJ MGP_SPRETEiJ_G0032148
 protein coding gene Chr8:44533110-44578785 (-)
WSB/EiJ MGP_WSBEiJ_G0032720
 protein coding gene Chr8:45630183-45675271 (-)



Homology
more
  • Human Ortholog
    PRIMPOL, primase and DNA directed polymerase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PRIMPOL, primase and DNA directed polymerase
  • Synonyms
    CCDC111, MYP22, Primpol1
  • Links
    NCBI Gene ID: 201973
    neXtProt AC: NX_Q96LW4
    UniProt: Q96LW4

  • Chr Location
    4q35.1; chr4:184649667-184694963 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human PRIMPOL associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 4 alleles in 4 genetic backgrounds
    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 mutants are viable and fertile. Mice homozygous for another knock-out allele exhibit selective increase in C to G transversions in B cells.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    41
  • 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
    734
  • Tissues
    23
  • cDNA Data
    5
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000038225 Ensembl Gene Model | MGI Sequence Detail 41619 C57BL/6J ±  kb
    transcript ENSMUST00000211400 Ensembl | MGI Sequence Detail 3797 Not Applicable  
    polypeptide ENSMUSP00000147574 Ensembl | MGI Sequence Detail 537 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 7
      cDNA 7

      Microarray probesets 2
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 1
      Gene Ontology 7
      Phenotypes 18
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • 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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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory