|Institutional Source||Beutler Lab|
|Gene Name||ribonucleotide reductase M1|
|Is this an essential gene?||Probably essential (E-score: 0.970)|
|Stock #||R5433 (G1)|
|Chromosomal Location||102441695-102469771 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 102465767 bp (GRCm38)|
|Amino Acid Change||Asparagine to Isoleucine at position 37 (N37I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000147865 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000033283] [ENSMUST00000209630]|
AA Change: N652I
PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: N652I
AA Change: N37I
PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (58/58)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the large and catalytic subunit of ribonucleotide reductase, an enzyme essential for the conversion of ribonucleotides into deoxyribonucleotides. A pool of available deoxyribonucleotides is important for DNA replication during S phase of the cell cycle as well as multiple DNA repair processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic letahlity before E3.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rrm1||
(F):5'- GTGAAATGTCCTCCTCAGTTGTG -3'
(R):5'- GTGCAATTCTAGCACAACAATGC -3'
(F):5'- CTCCTCAGTTGTGTAAAAATAGTGGG -3'
(R):5'- TGCAGAGAGACATTAATAGAACCTGC -3'