|Institutional Source||Beutler Lab|
|Gene Name||KDM1 lysine (K)-specific demethylase 6B|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7673 (G1)|
|Chromosomal Location||69398508-69413675 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to C at 69405742 bp|
|Amino Acid Change||Serine to Arginine at position 566 (S566R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000091620 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000094077]|
The free structure of the mouse C-terminal domain of KDM6B [X-RAY DIFFRACTION]
free KDM6B structure [X-RAY DIFFRACTION]
the crystal structure of KDM6B bound with H3K27me3 peptide [X-RAY DIFFRACTION]
|Predicted Effect||probably damaging
AA Change: S566R
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: S566R
|Meta Mutation Damage Score||0.6329|
|Coding Region Coverage||
|Validation Efficiency||100% (72/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a null allele show perinatal death, thick alveolar septum, and absence of air space in the lungs. Mice homozygous for a different null allele die neonatally displaying abnormal lung development, dwarfism, kyphosis, short limbs, and a severe delay in endochondral ossification. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kdm6b||
(F):5'- TCTTTGGGAAGGAGACCCTG -3'
(R):5'- TGGAGAGATCTTAGGGGAGCTC -3'
(F):5'- AGCGCCTGAAGCTTCCTGAG -3'
(R):5'- AGATCTTAGGGGAGCTCTTCTTTG -3'