|Institutional Source||Beutler Lab|
|Gene Name||RAD21 cohesin complex component|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1631 (G1)|
|Chromosomal Location||51962240-51991747 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 51970040 bp|
|Amino Acid Change||Valine to Phenylalanine at position 348 (V348F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022927 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022927] [ENSMUST00000226529]|
|Predicted Effect||probably damaging
AA Change: V348F
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: V348F
|Predicted Effect||probably benign
|Coding Region Coverage||
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 rad21, a gene involved in the repair of DNA double-strand breaks, as well as in chromatid cohesion during mitosis. This protein is a nuclear phospho-protein, which becomes hyperphosphorylated in cell cycle M phase. The highly regulated association of this protein with mitotic chromatin specifically at the centromere region suggests its role in sister chromatid cohesion in mitotic cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit prenatal lethality, reduced male fertility, and produce oocytes that fail to maintain sister chromatids in the first mitosis following fertilization. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rad21||
(F):5'- CATCCCATCAGTACGTGAGCCAAG -3'
(R):5'- TGCCTAGCTCTGTGTCTAGAAAGTCAG -3'
(F):5'- GCACGTATCAGTTTGAGCAC -3'
(R):5'- CTGTGTCTAGAAAGTCAGAGGATAAC -3'