|Institutional Source||Beutler Lab|
|Gene Name||H2A histone family member L2A|
|Synonyms||Tseg1, H2AL2, H2afb1, 1700113O17Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.207)|
|Stock #||R6738 (G1)|
|Chromosomal Location||17996417-17996958 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 17996618 bp|
|Amino Acid Change||Glutamine to Lysine at position 86 (Q86K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000100618 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000105001]|
|Predicted Effect||possibly damaging
AA Change: Q86K
PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: Q86K
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
|MGI Phenotype||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. [provided by RefSeq, Nov 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in H2al2a||
(F):5'- CCAGGATCAATGGGTTCGATG -3'
(R):5'- CAATTTCCTGTTAGCCGTGTG -3'
(F):5'- GATCAATGGGTTCGATGTAAATGC -3'
(R):5'- AGCCGTGTGGATCGTTTCCTAC -3'