|Institutional Source||Beutler Lab|
|Gene Name||histone cluster 1, H1c|
|Synonyms||H1.2, H1var1, H1f2, 0610008C09Rik, H1c|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2008 (G1)|
|Chromosomal Location||23738808-23740367 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to G at 23739409 bp|
|Amino Acid Change||Serine to Arginine at position 187 (S187R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000045816 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040914]|
|Predicted Effect||probably benign
AA Change: S187R
PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: S187R
|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 member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations are normal, but Hist1h1c/Hist1h1e double knockout males are significantly smaller than normal. The Hist1h1c/Hist1h1e/Hist1h1d triple knockout is lethal 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 Hist1h1c||
(F):5'- CAACAAGAAGGCGGCTTCTG -3'
(R):5'- TCGAGTCCCTTGCAACCTTG -3'
(F):5'- CAAACCCCAGGCTAAGAAGG -3'
(R):5'- GCTTCATTAATCACACAAATGTCAC -3'