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AU040320 Gene Detail
Summary
  • Symbol
    AU040320
  • Name
    expressed sequence AU040320
  • Feature Type
    protein coding gene
  • IDs
    MGI:2140475
    NCBI Gene: 100317
  • Alliance
    gene page
  • Transcription Start Sites
    9 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:126647331-126763487 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 60.94 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    483 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2140475
 protein coding gene Chr4:126647331-126763863 (+)
129S1/SvImJ MGP_129S1SvImJ_G0028788
 protein coding gene Chr4:128465423-128584522 (+)
A/J MGP_AJ_G0028747
 protein coding gene Chr4:123402760-123520350 (+)
AKR/J MGP_AKRJ_G0028700
 protein coding gene Chr4:126789116-126908401 (+)
BALB/cJ MGP_BALBcJ_G0028770
 protein coding gene Chr4:123975189-124091506 (+)
C3H/HeJ MGP_C3HHeJ_G0028484
 protein coding gene Chr4:126865419-126984315 (+)
C57BL/6NJ MGP_C57BL6NJ_G0029212
 protein coding gene Chr4:133352580-133467965 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026485
 protein coding gene Chr4:116532636-116649703 (+)
CAST/EiJ MGP_CASTEiJ_G0027917
 protein coding gene Chr4:124977026-125095319 (+)
CBA/J MGP_CBAJ_G0028450
 protein coding gene Chr4:136576945-136704284 (+)
DBA/2J MGP_DBA2J_G0028599
 protein coding gene Chr4:123847974-123965075 (+)
FVB/NJ MGP_FVBNJ_G0028566
 protein coding gene Chr4:122505608-122626192 (+)
LP/J MGP_LPJ_G0028700
 protein coding gene Chr4:128743763-128863549 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028592
 protein coding gene Chr4:141596896-141717893 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0029250
 protein coding gene Chr4:127155587-127273633 (+)
PWK/PhJ MGP_PWKPhJ_G0027638
 protein coding gene Chr4:120345933-120466305 (+)
SPRET/EiJ MGP_SPRETEiJ_G0027464
 protein coding gene Chr4:122983176-123107683 (+)
WSB/EiJ MGP_WSBEiJ_G0027997
 protein coding gene Chr4:127265749-127385943 (+)



Homology
more
  • Human Ortholog
    KIAA0319L, KIAA0319 like
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KIAA0319L, KIAA0319 like
  • Synonyms
    AAVR, AAVRL
  • Links
    NCBI Gene ID: 79932
    neXtProt AC: NX_Q8IZA0
    UniProt: Q8IZA0

  • Chr Location
    1p34.3; chr1:35393883-35557950 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotypes from 4 alleles in 3 genetic backgrounds
    21 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 male infertility associated with oligozoospermia, immotile sperm, coiled sperm tails with mitochondrial disorganization, impaired acrosome formation, and globozoospermia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    21
  • GO References
    7
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
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
    816
  • Tissues
    14
  • cDNA Data
    21
  • Literature Summary
    2
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 100317 NCBI Gene Model | MGI Sequence Detail 116157 C57BL/6J ±  kb
    transcript NM_001355196 RefSeq | MGI Sequence Detail 4736 C57BL/6  
    polypeptide Q8K135 UniProt | EBI | MGI Sequence Detail 1048 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 22
      cDNA 22

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2442743
    References
    more
    • Summaries
      All 47
      Developmental Gene Expression 2
      Gene Ontology 7
      Phenotypes 21
    • Earliest
      J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
    • Latest
      J:341522 Zengel J, et al., Hardwiring tissue-specific AAV transduction in mice through engineered receptor expression. Nat Methods. 2023 Jul;20(7):1070-1081
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory