|Institutional Source||Beutler Lab|
|Gene Name||histone cluster 1, H2aa|
|Essential gene?||Possibly non essential (E-score: 0.328)|
|Stock #||R0265 (G1)|
|Chromosomal Location||23934462-23934851 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 23934649 bp (GRCm38)|
|Amino Acid Change||Valine to Alanine at position 63 (V63A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000072227 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000052776] [ENSMUST00000072391]|
AA Change: V63A
PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
AA Change: V63A
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
|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 is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hist1h2aa||
(F):5'- CAAGGTCAAGTCTCGCTCTTCCAG -3'
(R):5'- TTGCCACAGAAGGCCGTAGAATAC -3'
(F):5'- TCGCTCTTCCAGGGCAG -3'
(R):5'- GATTATACCTGTCATGCACAGC -3'