|Institutional Source||Beutler Lab|
|Gene Name||AT rich interactive domain 5B (MRF1-like)|
|Synonyms||5430435G07Rik, Mrf2beta, Mrf2alpha, Mrf2, Desrt|
|Is this an essential gene?||Probably essential (E-score: 0.937)|
|Stock #||R6313 (G1)|
|Chromosomal Location||68092520-68278740 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 68097582 bp (GRCm38)|
|Amino Acid Change||Aspartic acid to Glycine at position 587 (D587G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000151665 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020106] [ENSMUST00000218532] [ENSMUST00000219238]|
AA Change: D587G
PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
AA Change: D830G
PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|Meta Mutation Damage Score||0.5633|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene experience a high level of mortality perinatally or earlier. Growth rates are low and mice remain small throughout live. There are abnormalities in various organ systems as well as the reproductive system. Fertility is reduced. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arid5b||
(F):5'- TGGGAAGGCTCAGATCTGTG -3'
(R):5'- TCTTCAAGCACGACAAACTGAG -3'
(F):5'- ATCATCGGTAGAGGCTTCTGC -3'
(R):5'- ACAAACTGAGCCGGTCCGATG -3'