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Mab21l1 Gene Detail
Summary
  • Symbol
    Mab21l1
  • Name
    mab-21-like 1
  • Feature Type
    protein coding gene
  • IDs
    MGI:1333773
    NCBI Gene: 17116
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:55689931-55692422 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 3, 26.65 cM, cytoband E3-F1
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    112 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1333773
protein coding gene Chr3:55689931-55692708 (+)
129S1/SvImJ MGP_129S1SvImJ_G0027226
protein coding gene Chr3:54533485-54535976 (+)
A/J MGP_AJ_G0027186
protein coding gene Chr3:52851758-52854249 (+)
AKR/J MGP_AKRJ_G0027156
protein coding gene Chr3:53939740-53942234 (+)
BALB/cJ MGP_BALBcJ_G0027199
protein coding gene Chr3:52688668-52691159 (+)
C3H/HeJ MGP_C3HHeJ_G0026942
protein coding gene Chr3:54129045-54131536 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027645
protein coding gene Chr3:56565417-56567908 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025003
protein coding gene Chr3:49342109-49344597 (+)
CAST/EiJ MGP_CASTEiJ_G0026394
protein coding gene Chr3:54290845-54293339 (+)
CBA/J MGP_CBAJ_G0026918
protein coding gene Chr3:58402049-58404540 (+)
DBA/2J MGP_DBA2J_G0027052
protein coding gene Chr3:52389235-52391728 (+)
FVB/NJ MGP_FVBNJ_G0027020
protein coding gene Chr3:51378344-51380836 (+)
LP/J MGP_LPJ_G0027164
protein coding gene Chr3:55231146-55233637 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027038
protein coding gene Chr3:62484195-62490119 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027703
protein coding gene Chr3:53839051-53841542 (+)
PWK/PhJ MGP_PWKPhJ_G0026126
protein coding gene Chr3:52059710-52062201 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025939
protein coding gene Chr3:53602249-53604738 (+)
WSB/EiJ MGP_WSBEiJ_G0026468
protein coding gene Chr3:53974938-53977429 (+)



Homology
more
  • Human Ortholog
    MAB21L1, mab-21 like 1
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MAB21L1, mab-21 like 1
  • Synonyms
    CAGR1, COFG, Nbla00126
  • Links
    NCBI Gene ID: 4081
    neXtProt AC: NX_Q13394
    UniProt: Q13394

  • Chr Location
    13q13.3; chr13:35473419-35478764 (-)  GRCh38

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    17 phenotypes from 1 allele in 1 genetic background
    10 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 mutation of this gene results in male infertility and eye developmental anomalies. Mutant eyes are small, absent of lens and iris, and display malformations of the retina.
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
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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
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000056947 Ensembl Gene Model | MGI Sequence Detail 2492 C57BL/6J ±  kb
    transcript ENSMUST00000075422 Ensembl | MGI Sequence Detail 2492 Not Applicable  
    polypeptide ENSMUSP00000074878 Ensembl | MGI Sequence Detail 359 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 52
      cDNA 46
      Primer pair 4
      Other 2

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2139952
    References
    more
    • Summaries
      All 52
      Developmental Gene Expression 23
      Diseases 1
      Gene Ontology 5
      Phenotypes 10
    • Earliest
      J:64276 Lyon MF, et al., Dose-response curves for radiation-induced gene mutations in mouse oocytes and their interpretation. Mutat Res. 1979 Nov;63(1):161-73
    • Latest
      J:351048 Hall HN, et al., Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022;17(11):e0268149

    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
    09/24/2024
    MGI 6.24
    The Jackson Laboratory