Aqr Gene Detail

Summary

• Symbol
  Aqr
• Name
  aquarius
• Synonyms
  mKIAA0560

• Feature Type
  protein coding gene
• IDs
  MGI:1276102
  NCBI Gene: 11834
• Alliance
  gene page

Location & Maps

• Sequence Map
  Chr2:114101170-114187024 bp, - strand
• From VEGA annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    85855 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 2, 57.57 cM, cytoband E5-F2
• Mapping Data
  3 experiments

Homology

• Human Ortholog
  AQR, aquarius intron-binding spliceosomal factor

• Vertebrate Orthologs
  10

• Human Ortholog
  AQR, aquarius intron-binding spliceosomal factor
  Orthology source: HGNC, HomoloGene
• Synonyms
  fSAP164, IBP160
• Links
  HGNC:29513

  NCBI Gene ID: 9716

  neXtProt AC: NX_O60306

  UniProt: O60306

  
  
• Chr Location
  15q14; chr15:34856351-34969794 (-)  GRCh38.p7

---

• HomoloGene
  Vertebrate Homology Class 7629
  1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  
• HCOP
  human homology predictions: AQR
• Protein SuperFamily
  AQR_cwf11
• Gene Tree
  Aqr
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  1 phenotype from 2 alleles in 2 genetic backgrounds
  11 phenotype references
  

• All Mutations and Alleles
  17
• Chemically induced (other)
  1
• Gene trapped
  13
• Radiation induced
  1
• Targeted
  2
• Genomic Mutations
  2 involving Aqr
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  48 strains or lines available

Homozygotes for a targeted null mutation exhibit severe defects in placental vascularization with few vessels entering the placenta and little branching. Mutants die between embryonic days 9.5 and 10.5.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  16
• GO References
  3

• External Resources
  FuncBase

Expression

• cDNA Data
  177
• Literature Summary
  1

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase aqr
  ZFIN aqr

Interactions

• Aqr interacts with 120 markers (Mir1a-1, Mir1a-2, Mir7-1, ...) View All

Sequences &
Gene Models

• All Sequences
  52
• RefSeq
  4
• UniProt
  2
• CCDS
  CCDS16565.1, CCDS71114.1
• UniGene
  2545

• VEGA
  OTTMUSG00000015215 (Evidence)
• Ensembl
  ENSMUSG00000040383 (Evidence)
• NCBI Gene
  11834

Representative Sequences			Length	Strain/Species
genomic	OTTMUSG00000015215	VEGA Gene Model | MGI Sequence Detail	85855	C57BL/6J
transcript	OTTMUST00000036044	VEGA | MGI Sequence Detail	4888	Not Applicable
polypeptide	OTTMUSP00000016194	VEGA | MGI Sequence Detail	1481	Not Applicable

Polymorphisms

• SNPs within 2kb
  770 from dbSNP Build 142

Protein
Information

• UniProt
  2 Sequences
• Protein Ontology
  PR:000004190 intron-binding protein aquarius
  (term hierarchy)
• EC
  3.6.4.13
• InterPro Domains
  IPR026300 CWF11 family
  IPR032174 Intron-binding protein aquarius, N-terminal
  IPR027417 P-loop containing nucleoside triphosphate hydrolase

Molecular
Reagents

• All nucleic 182

  Genomic 1

  cDNA 181

  
  

  Microarray probesets 9

Other
Accession IDs

MGI:2139359

References

• Summaries
  All 35

  Developmental Gene Expression 1

  Gene Ontology 3

  Phenotypes 11
• Earliest
  J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
• Latest
  J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42