|Institutional Source||Beutler Lab|
|Gene Name||histone cluster 1, H1a|
|Synonyms||H1a, H1f1, H1.1, H1var3|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2080 (G1)|
|Chromosomal Location||23763666-23764406 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 23763949 bp (GRCm38)|
|Amino Acid Change||Asparagine to Serine at position 78 (N78S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000062030 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000055770] [ENSMUST00000091701] [ENSMUST00000102964]|
AA Change: N78S
PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
AA Change: N78S
|Meta Mutation Damage Score||0.0959|
|Coding Region Coverage||
|Validation Efficiency||100% (55/55)|
FUNCTION: Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any defects in the reproductive system or in spermatogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hist1h1a||
(F):5'- TCTACTGCCACGGAGAAACC -3'
(R):5'- AGTCTTCTTAGCTGCAGCCC -3'
(F):5'- ACGGAGAAACCTGCTGCTG -3'
(R):5'- AGCCCCAGCAGTCTTCTTAGG -3'