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D630045J12Rik Gene Detail
Summary
  • Symbol
    D630045J12Rik
  • Name
    RIKEN cDNA D630045J12 gene
  • Synonyms
    mKIAA1549
  • Feature Type
    protein coding gene
  • IDs
    MGI:2669829
    NCBI Gene: 330286
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:38100109-38230944 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 17.68 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1015 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2669829
 protein coding gene Chr6:38100109-38231074 (-)
129S1/SvImJ MGP_129S1SvImJ_G0030582
 protein coding gene Chr6:36398373-36545737 (-)
A/J MGP_AJ_G0030555
 protein coding gene Chr6:34830140-34961602 (-)
AKR/J MGP_AKRJ_G0030482
 protein coding gene Chr6:35940846-36073111 (-)
BALB/cJ MGP_BALBcJ_G0030565
 protein coding gene Chr6:35018855-35153313 (-)
C3H/HeJ MGP_C3HHeJ_G0030278
 protein coding gene Chr6:35943210-36077228 (-)
C57BL/6NJ MGP_C57BL6NJ_G0031019
 protein coding gene Chr6:37317238-37462950 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0028231
 protein coding gene Chr6:32740672-32871645 (-)
CAST/EiJ MGP_CASTEiJ_G0029680
 protein coding gene Chr6:35835282-35973118 (-)
CBA/J MGP_CBAJ_G0030256
 protein coding gene Chr6:38743939-38893930 (-)
DBA/2J MGP_DBA2J_G0030400
 protein coding gene Chr6:34650316-34781680 (-)
FVB/NJ MGP_FVBNJ_G0030354
 protein coding gene Chr6:34438367-34570984 (-)
LP/J MGP_LPJ_G0030487
 protein coding gene Chr6:36459844-36594427 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0030390
 protein coding gene Chr6:41126557-41264328 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0031049
 protein coding gene Chr6:35860180-36002451 (-)
PWK/PhJ MGP_PWKPhJ_G0029394
 protein coding gene Chr6:34298474-34431189 (-)
SPRET/EiJ MGP_SPRETEiJ_G0029230
 protein coding gene Chr6:35580141-35719197 (-)
WSB/EiJ MGP_WSBEiJ_G0029756
 protein coding gene Chr6:35804325-35939689 (-)



Homology
more
  • Human Ortholog
    KIAA1549, KIAA1549
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
Human Diseases
more
  • Diseases
    1 with human KIAA1549 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 1 allele in 1 genetic background
    8 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    3
  • GO References
    2
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
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
non-membrane-bounded 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
    823
  • Tissues
    43
  • cDNA Data
    79
  • Literature Summary
    3
  • Comparison Matrix
    Gene Expression + Phenotype
    • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000063455 Ensembl Gene Model | MGI Sequence Detail 130836 C57BL/6J ±  kb
    transcript ENSMUST00000169256 Ensembl | MGI Sequence Detail 10968 Not Applicable  
    polypeptide ENSMUSP00000130121 Ensembl | MGI Sequence Detail 1940 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 81
      cDNA 81

      Microarray probesets 3
    References
    more
    • Summaries
      All 31
      Developmental Gene Expression 3
      Gene Ontology 2
      Phenotypes 8
    • Earliest
      J:86686 Okazaki N, et al., Prediction of the coding sequences of mouse homologues of KIAA gene: III. the complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries. DNA Res. 2003 Aug 31;10(4):167-80
    • Latest
      J:285028 de Bruijn SE, et al., Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa. J Med Genet. 2018 Oct;55(10):705-712
    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
    05/30/2023
    MGI 6.22     		The Jackson Laboratory