|Institutional Source||Beutler Lab|
|Gene Name||lysine (K)-specific demethylase 5B|
|Synonyms||Jarid1b, Plu1, Rb-Bp2, 2210016I17Rik, 2010009J12Rik, PLU-1, D1Ertd202e|
|Is this an essential gene?||Possibly non essential (E-score: 0.266)|
|Stock #||R3983 (G1)|
|Chromosomal Location||134560171-134635285 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 134631304 bp|
|Amino Acid Change||Proline to Leucine at position 1522 (P1522L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000038138 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047714] [ENSMUST00000112198]|
|Predicted Effect||possibly damaging
AA Change: P1522L
PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: P1522L
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1429|
|Coding Region Coverage||
|Validation Efficiency||100% (65/65)|
FUNCTION: This gene encodes a lysine-specific histone demethylase that belongs to the jumonji/ARID domain-containing family of histone demethylases. The encoded protein is capable of demethylating tri-, di- and monomethylated lysine 4 of histone H3. This protein plays a role in the transcriptional repression or certain tumor suppressor genes and is upregulated in certain cancer cells. This protein may also play a role in genome stability and DNA repair. Homozygous mutant mice display decreased body weight, decreased female fertility, lower uterine weight, and a delay in mammary development. Knockout of this gene has also been associated with embryonic lethality. [provided by RefSeq, Dec 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased body weight, background-sensitive premature mortality, decreased female fertility, delayed mammary gland development, decreased serum estradiol levels, and reduced mammary epithelial cell proliferation in early puberty. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kdm5b||
(F):5'- ACCTGAAGAGTGACTCTGCCTC -3'
(R):5'- AAATAGCACCGTGTACAGGC -3'
(F):5'- AGTGACTCTGCCTCCCAGC -3'
(R):5'- TGTACAGGCTGGCTCGAC -3'