|Institutional Source||Beutler Lab|
|Gene Name||histone cell cycle regulator|
|Synonyms||D16Ertd95e, Gm15797, Tuple1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5327 (G1)|
|Chromosomal Location||18877037-18970309 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 18954758 bp|
|Amino Acid Change||Tyrosine to Histidine at position 943 (Y943H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000004222 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000004222] [ENSMUST00000190050]|
|Predicted Effect||probably damaging
AA Change: Y943H
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: Y943H
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.2793|
|Coding Region Coverage||
|Validation Efficiency||100% (101/101)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted gastrulation, malformations of axial and paraxial mesoendoderm, abnormal placentas, failure of cardiac development, and lethality by embryonic day 11. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hira||
(F):5'- CACCATTGTAGCACACCCTG -3'
(R):5'- CAGAATACCTTGCTCCCTGC -3'
(F):5'- GTAGCACACCCTGTCTTACTGTG -3'
(R):5'- TGCCAGGGGAGCTGCTAAG -3'