|Institutional Source||Beutler Lab|
|Gene Name||histone cluster 1, H1d|
|Synonyms||H1s-4, H1.3, H1D, H1f3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7800 (G1)|
|Chromosomal Location||23553262-23560686 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 23555367 bp|
|Amino Acid Change||Threonine to Asparagine at position 93 (T93N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000044395 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000045301] [ENSMUST00000102971]|
|Predicted Effect||possibly damaging
AA Change: T93N
PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: T93N
|Predicted Effect||probably benign
|Coding Region Coverage||
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, Sep 2015]
PHENOTYPE: Homozygotes for targeted null mutations are phenotypically normal. However, Hist1h1c/Hist1h1e/Hist1h1d triple knockout mice die by embryonic day 12.5, and heterozygotes are underrepresented. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hist1h1d||
(F):5'- TGCACCTGTGGAGAAGACAC -3'
(R):5'- TTGGAAACTTTCTTGGCGCC -3'
(F):5'- CACCTGTGGAGAAGACACCTGTG -3'
(R):5'- CGGAGTCTTCTTGGCCGTC -3'