|Institutional Source||Beutler Lab|
|Gene Name||H1 histone family, member N, testis-specific|
|Is this an essential gene?||Probably non essential (E-score: 0.201)|
|Stock #||R1665 (G1)|
|Chromosomal Location||98255986-98257293 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 98256915 bp|
|Amino Acid Change||Glutamine to Lysine at position 118 (Q118K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000127616 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060855]|
|Predicted Effect||probably benign
AA Change: Q118K
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: Q118K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (87/87)|
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-independent histone that is a member of the histone H1 family. This gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null male mice display reduced fertility with asthenozoospermia, oligozoospermia, and teratozoospermia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in H1fnt||
(F):5'- TCCTGGACCTTGCCTTCAAAGC -3'
(R):5'- GGAATCCCAAGGCGCAGAACTTAC -3'
(F):5'- TGCCTTCAAAGCCCTGG -3'
(R):5'- AGTCAGTGCTCAGAGTGTCC -3'