|Institutional Source||Beutler Lab|
|Gene Name||RAD9 checkpoint clamp component A|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4765 (G1)|
|Chromosomal Location||4195198-4201603 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 4200489 bp|
|Amino Acid Change||Valine to Leucine at position 109 (V109L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025740 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025740]|
|Predicted Effect||probably benign
AA Change: V109L
PolyPhen 2 Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
AA Change: V109L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is highly similar to Schizosaccharomyces pombe rad9, a cell cycle checkpoint protein required for cell cycle arrest and DNA damage repair. This protein possesses 3' to 5' exonuclease activity, which may contribute to its role in sensing and repairing DNA damage. It forms a checkpoint protein complex with RAD1 and HUS1. This complex is recruited by checkpoint protein RAD17 to the sites of DNA damage, which is thought to be important for triggering the checkpoint-signaling cascade. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Embryos homozygous for a knock-out allele are consistently smaller and display abnormal embryonic development and midgestational lethality associated with increased apoptosis and reduced cellular proliferation. Mutant mouse embryonic fibroblasts are not viable. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rad9a||
(F):5'- TCAGGCGAAGTTTGAAGCAG -3'
(R):5'- TGCAGACACCACAGCTTTG -3'
(F):5'- CTGGGGTGCGCAATAAGTG -3'
(R):5'- ACAGCTTTGTGGGGCCAG -3'