|Institutional Source||Beutler Lab|
|Gene Name||RAD17 checkpoint clamp loader component|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6890 (G1)|
|Chromosomal Location||100617164-100651051 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 100637084 bp|
|Amino Acid Change||Isoleucine to Valine at position 201 (I201V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152977 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022136] [ENSMUST00000177848] [ENSMUST00000226050]|
|Predicted Effect||probably benign
AA Change: I201V
PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)
|Coding Region Coverage||
|Validation Efficiency||100% (39/39)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous null mice display embryonic lethality with incomplete somite formation, abnormal bracnchial arch, liver, and heart morphology, abnormal neural tube development, and multiple hemorrhages. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rad17||
(F):5'- TCAGCGCCTTCCAAGTAAAC -3'
(R):5'- CCCGTGCCTTTTGTTTAGCTAAAG -3'
(F):5'- GCGCCTTCCAAGTAAACTTACC -3'
(R):5'- GAAAACAATCCTCTCAGATCT -3'