|Institutional Source||Beutler Lab|
|Gene Name||H2A histone family, member Y2|
|Is this an essential gene?||Possibly essential (E-score: 0.588)|
|Stock #||R5541 (G1)|
|Chromosomal Location||61738665-61784147 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 61747717 bp|
|Amino Acid Change||Isoleucine to Valine at position 215 (I215V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020283 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020283]|
|Predicted Effect||probably benign
AA Change: I215V
PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)
AA Change: I215V
|Meta Mutation Damage Score||0.0680|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and may participate in stable X chromosome inactivation. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any developmental or reproductive abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in H2afy2||
(F):5'- TGGCAGGATGAGCTACCAAG -3'
(R):5'- CCACTGGTATTTTGAGCCCC -3'
(F):5'- CAGGTGCCGAATGACAGCTG -3'
(R):5'- GTATTTTGAGCCCCTGTGCTGAC -3'