Incidental Mutation 'R3796:Rrm1'
ID 272763
Institutional Source Beutler Lab
Gene Symbol Rrm1
Ensembl Gene ENSMUSG00000030978
Gene Name ribonucleotide reductase M1
Synonyms RnrM1
MMRRC Submission 040757-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R3796 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102090902-102118978 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 102114910 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033283] [ENSMUST00000209630]
AlphaFold P07742
Predicted Effect probably null
Transcript: ENSMUST00000033283
SMART Domains Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978

DomainStartEndE-ValueType
Pfam:ATP-cone 1 89 8.7e-21 PFAM
Pfam:Ribonuc_red_lgN 141 213 2.8e-25 PFAM
Pfam:Ribonuc_red_lgC 216 738 1.6e-197 PFAM
coiled coil region 749 778 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000209630
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210543
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (40/40)
MGI Phenotype 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
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 A G 7: 66,489,662 (GRCm39) probably null Het
Alpk3 C A 7: 80,742,501 (GRCm39) P773T probably benign Het
Alppl2 A G 1: 87,016,076 (GRCm39) probably null Het
Armh3 A G 19: 45,910,049 (GRCm39) probably benign Het
Basp1 C A 15: 25,364,398 (GRCm39) probably benign Het
Clec14a G A 12: 58,314,695 (GRCm39) A309V probably benign Het
Clk2 A G 3: 89,082,996 (GRCm39) N424S probably benign Het
Cops7a C T 6: 124,936,795 (GRCm39) R252H probably damaging Het
Csmd2 C T 4: 128,411,388 (GRCm39) P2469S probably benign Het
Cwf19l1 A G 19: 44,103,006 (GRCm39) V403A probably damaging Het
Dnajc16 G T 4: 141,495,048 (GRCm39) D521E probably benign Het
Dnm2 T C 9: 21,416,783 (GRCm39) V772A probably benign Het
Dst G T 1: 34,220,996 (GRCm39) V2267F probably benign Het
Eif3d A G 15: 77,852,769 (GRCm39) F4S probably damaging Het
Fgfr1 G A 8: 26,062,453 (GRCm39) D663N probably damaging Het
Hmcn1 A G 1: 150,462,169 (GRCm39) Y5170H probably damaging Het
Kcna2 T A 3: 107,012,906 (GRCm39) L496I probably benign Het
Krt8 T C 15: 101,907,877 (GRCm39) I233V probably benign Het
Mfap1b A G 2: 121,304,386 (GRCm39) V3A probably benign Het
Phrf1 C T 7: 140,839,831 (GRCm39) R243* probably null Het
Plbd2 A T 5: 120,630,933 (GRCm39) I224N probably damaging Het
Rab19 T C 6: 39,360,975 (GRCm39) V41A probably benign Het
Sacs T C 14: 61,443,570 (GRCm39) V1872A possibly damaging Het
Setd2 T C 9: 110,378,639 (GRCm39) V818A probably benign Het
Shprh C T 10: 11,054,501 (GRCm39) L1037F possibly damaging Het
Slc24a3 A G 2: 145,458,601 (GRCm39) D527G probably damaging Het
Slc27a6 T C 18: 58,731,823 (GRCm39) probably benign Het
Slc35g3 A G 11: 69,651,743 (GRCm39) F103L probably benign Het
Slc5a1 A G 5: 33,309,996 (GRCm39) D408G probably damaging Het
Spag6l A T 16: 16,580,916 (GRCm39) I477N probably damaging Het
Srgap1 A G 10: 121,883,037 (GRCm39) V21A probably benign Het
Trim7 A G 11: 48,736,497 (GRCm39) probably null Het
Trpa1 T C 1: 14,963,488 (GRCm39) N578S possibly damaging Het
Xdh T C 17: 74,214,653 (GRCm39) E764G probably damaging Het
Zfp518a G T 19: 40,903,754 (GRCm39) V1228F probably damaging Het
Other mutations in Rrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Rrm1 APN 7 102,103,714 (GRCm39) nonsense probably null
IGL01431:Rrm1 APN 7 102,106,759 (GRCm39) splice site probably benign
IGL03251:Rrm1 APN 7 102,106,413 (GRCm39) missense probably damaging 1.00
IGL03401:Rrm1 APN 7 102,114,951 (GRCm39) missense possibly damaging 0.81
Arabica UTSW 7 102,109,558 (GRCm39) missense probably damaging 1.00
Pentose UTSW 7 102,110,063 (GRCm39) splice site probably null
R0454:Rrm1 UTSW 7 102,116,133 (GRCm39) missense probably damaging 1.00
R0548:Rrm1 UTSW 7 102,116,274 (GRCm39) critical splice donor site probably null
R0759:Rrm1 UTSW 7 102,106,768 (GRCm39) missense probably benign 0.32
R1575:Rrm1 UTSW 7 102,105,721 (GRCm39) missense probably damaging 1.00
R1586:Rrm1 UTSW 7 102,116,112 (GRCm39) makesense probably null
R1625:Rrm1 UTSW 7 102,117,554 (GRCm39) missense probably damaging 0.98
R2207:Rrm1 UTSW 7 102,091,233 (GRCm39) start codon destroyed probably null 0.98
R2432:Rrm1 UTSW 7 102,092,279 (GRCm39) missense probably benign 0.03
R2513:Rrm1 UTSW 7 102,109,896 (GRCm39) missense probably damaging 0.99
R3914:Rrm1 UTSW 7 102,106,381 (GRCm39) missense probably damaging 1.00
R4179:Rrm1 UTSW 7 102,106,405 (GRCm39) missense probably damaging 1.00
R4302:Rrm1 UTSW 7 102,097,031 (GRCm39) missense probably benign 0.00
R4379:Rrm1 UTSW 7 102,095,800 (GRCm39) missense probably damaging 1.00
R4416:Rrm1 UTSW 7 102,097,008 (GRCm39) missense probably benign 0.06
R4690:Rrm1 UTSW 7 102,097,086 (GRCm39) missense probably benign
R4939:Rrm1 UTSW 7 102,116,131 (GRCm39) missense probably benign 0.34
R5433:Rrm1 UTSW 7 102,114,974 (GRCm39) missense probably damaging 0.97
R5445:Rrm1 UTSW 7 102,100,230 (GRCm39) missense possibly damaging 0.77
R6120:Rrm1 UTSW 7 102,110,063 (GRCm39) splice site probably null
R6198:Rrm1 UTSW 7 102,095,936 (GRCm39) critical splice donor site probably null
R6369:Rrm1 UTSW 7 102,095,909 (GRCm39) missense probably damaging 0.97
R6699:Rrm1 UTSW 7 102,110,032 (GRCm39) missense probably damaging 1.00
R7009:Rrm1 UTSW 7 102,109,541 (GRCm39) missense probably damaging 1.00
R7491:Rrm1 UTSW 7 102,103,764 (GRCm39) missense probably damaging 1.00
R8024:Rrm1 UTSW 7 102,106,472 (GRCm39) missense probably benign 0.00
R8276:Rrm1 UTSW 7 102,110,059 (GRCm39) critical splice donor site probably null
R8713:Rrm1 UTSW 7 102,109,558 (GRCm39) missense probably damaging 1.00
R8963:Rrm1 UTSW 7 102,105,739 (GRCm39) missense probably benign 0.23
R8968:Rrm1 UTSW 7 102,117,545 (GRCm39) missense probably benign 0.03
R9028:Rrm1 UTSW 7 102,109,605 (GRCm39) missense probably damaging 1.00
R9442:Rrm1 UTSW 7 102,108,598 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTCATCTCCCACACTGAAGG -3'
(R):5'- CATGGCACCACAATGCTCAG -3'

Sequencing Primer
(F):5'- GTCTGGATATGCACATACATACAGTC -3'
(R):5'- TGCTCAGCTCAGCTCCTAGAAG -3'
Posted On 2015-03-25