|Institutional Source||Beutler Lab|
|Gene Name||RAD54 homolog B (S. cerevisiae)|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7847 (G1)|
|Chromosomal Location||11558922-11615805 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 11612655 bp|
|Amino Acid Change||Serine to Arginine at position 762 (S762R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066977 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000070755]|
|Predicted Effect||probably damaging
AA Change: S762R
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: S762R
|Meta Mutation Damage Score||0.2327|
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have an increased sensitivity to ionizing radiation and other agents of DNA damage but outherwise have a normal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rad54b||
(F):5'- ATGTCTAGAGTATGGAGAGATGGTC -3'
(R):5'- AGACAACTCACCGGTGTGAC -3'
(F):5'- ATGGTCAGAAGCATCCTGTAC -3'
(R):5'- AACTCACCGGTGTGACCTTTTTC -3'