|Institutional Source||Beutler Lab|
|Gene Name||H2A histone family, member Y|
|Synonyms||H2AF12M, mH2a1, MACROH2A1.2, macroH2A1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5102 (G1)|
|Chromosomal Location||56073619-56136361 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (1 bp from exon)|
|DNA Base Change (assembly)||C to G at 56096123 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000038221 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000016081] [ENSMUST00000045788]|
|Coding Region Coverage||
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 participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for one knock-out allele are viable and fertile and display no gross phenotypic abnormalities. Mice homozygous for a different knock-out allele exhibit female-specific hepatic steatosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in H2afy||
(F):5'- AGCTTCGTGTCTGCTTCATG -3'
(R):5'- AAGAAGGAGTTGTGTGGCCC -3'
(F):5'- ATTCCTGGAACCTGGCAGCATC -3'
(R):5'- CCTGCCTGATGTCCGTG -3'