|Institutional Source||Beutler Lab|
|Gene Name||RAD21 cohesin complex component|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0299 (G1)|
|Chromosomal Location||51962240-51991747 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 51965030 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 547 (D547E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000022927 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000022927]|
|Predicted Effect||probably benign
AA Change: D547E
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
AA Change: D547E
|Meta Mutation Damage Score||0.126|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
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'- AATGCAGCCCTGGAGAAATTCCC -3'
(R):5'- TGACACCATCCAGTGTTGCACATC -3'
(F):5'- TGGAGAAATTCCCACCAAGG -3'
(R):5'- CAGTGTTTGCTTACAAGAGCTATCC -3'