|Institutional Source||Beutler Lab|
|Gene Name||lysine (K)-specific demethylase 5A|
|Synonyms||Jarid1a, Rbbp2, RBP2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6198 (G1)|
|Chromosomal Location||120364124-120444574 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 120438997 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 1626 (V1626E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000005108 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000005108]|
|Predicted Effect||probably benign
AA Change: V1626E
PolyPhen 2 Score 0.366 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V1626E
|Predicted Effect||noncoding transcript
|Coding Region Coverage||
|Validation Efficiency||99% (68/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Jumonji, AT-rich interactive domain 1 (JARID1) histone demethylase protein family. The encoded protein plays a role in gene regulation through the histone code by specifically demethylating lysine 4 of histone H3. The encoded protein interacts with many other proteins, including retinoblastoma protein, and is implicated in the transcriptional regulation of Hox genes and cytokines. This gene may play a role in tumor progression. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced body size, abnormal involuntary movement and quantitative changes in the hematopoietic stem cell and myeloid progenitor compartments, consistent with enhanced survival and increased cycling. Neonatalsurvival is sensitive to genetic background. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kdm5a||
(F):5'- AGAGGCCTAATTTTGTGGACAC -3'
(R):5'- AACCAGACATCTGCTAACTGGTC -3'
(F):5'- AATTTGGGGGTATTAACTTCTCAGC -3'
(R):5'- GACATCTGCTAACTGGTCTCTTTAAG -3'