|Institutional Source||Beutler Lab|
|Gene Name||AT rich interactive domain 4A (RBP1-like)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4862 (G1)|
|Chromosomal Location||71015990-71098592 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 71075947 bp|
|Amino Acid Change||Aspartic acid to Valine at position 1034 (D1034V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035512 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000046305] [ENSMUST00000135709]|
|Predicted Effect||probably damaging
AA Change: D1034V
PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
AA Change: D1034V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1513|
|Coding Region Coverage||
|Validation Efficiency||95% (40/42)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitously expressed nuclear protein. It binds directly, with several other proteins, to retinoblastoma protein (pRB) which regulates cell proliferation. pRB represses transcription by recruiting the encoded protein. This protein, in turn, serves as a bridging molecule to recruit HDACs and, in addition, provides a second HDAC-independent repression function. The encoded protein possesses transcriptional repression activity. Multiple alternatively spliced transcripts have been observed for this gene, although not all transcript variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered DNA methylation patterns, disrupted hematopoiesis and a portion develop acute myeloid leukemia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arid4a||
(F):5'- GCCTGAAACCTTGGTTTGCC -3'
(R):5'- TCTGTCATAGCCAAGCCCTG -3'
(F):5'- CCTGAAACCTTGGTTTGCCATGAG -3'
(R):5'- TCATAGCCAAGCCCTGACTGG -3'