Incidental Mutation 'R0454:Rrm1'
ID 39880
Institutional Source Beutler Lab
Gene Symbol Rrm1
Ensembl Gene ENSMUSG00000030978
Gene Name ribonucleotide reductase M1
Synonyms RnrM1
MMRRC Submission 038654-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R0454 (G1)
Quality Score 195
Status Not validated
Chromosome 7
Chromosomal Location 102090902-102118978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 102116133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 684 (W684R)
Ref Sequence ENSEMBL: ENSMUSP00000033283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033283] [ENSMUST00000209630]
AlphaFold P07742
Predicted Effect probably damaging
Transcript: ENSMUST00000033283
AA Change: W684R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: W684R

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.8%
Validation Efficiency
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447F04Rik T C X: 65,347,274 (GRCm39) E91G unknown Het
Acot1 A G 12: 84,064,113 (GRCm39) Q407R probably benign Het
Adcy10 T A 1: 165,398,297 (GRCm39) Y1465N probably damaging Het
Ahsa2 T A 11: 23,440,702 (GRCm39) I249F probably damaging Het
Arhgap10 T C 8: 77,977,594 (GRCm39) N721S probably damaging Het
Arrdc4 T G 7: 68,391,619 (GRCm39) E216A probably damaging Het
Axin1 T C 17: 26,392,637 (GRCm39) V306A probably benign Het
Cct3 T C 3: 88,210,173 (GRCm39) probably null Het
Cfap58 G A 19: 47,963,119 (GRCm39) probably null Het
Chd9 T C 8: 91,699,859 (GRCm39) S49P possibly damaging Het
Clcn2 C A 16: 20,529,178 (GRCm39) probably null Het
Col26a1 T C 5: 136,783,047 (GRCm39) N286D probably benign Het
Cpt1b T A 15: 89,308,596 (GRCm39) I111F possibly damaging Het
Cyp4f16 T A 17: 32,756,061 (GRCm39) I30N probably damaging Het
Ddc T G 11: 11,830,587 (GRCm39) D19A possibly damaging Het
Depdc1a T A 3: 159,222,537 (GRCm39) probably null Het
Evc2 T A 5: 37,574,828 (GRCm39) C1028S possibly damaging Het
Fam228a T C 12: 4,781,457 (GRCm39) E134G probably damaging Het
Fasl T C 1: 161,615,523 (GRCm39) E111G probably benign Het
Fbxw10 A G 11: 62,767,564 (GRCm39) N800S possibly damaging Het
Fras1 T C 5: 96,910,524 (GRCm39) S3318P probably damaging Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gad1 T A 2: 70,409,545 (GRCm39) M212K probably damaging Het
Gm17455 T G 10: 60,238,752 (GRCm39) S6A probably benign Het
Grm5 T C 7: 87,779,997 (GRCm39) S1146P probably damaging Het
Gsn T C 2: 35,194,651 (GRCm39) L649P probably damaging Het
H2-DMb1 A G 17: 34,374,685 (GRCm39) T112A probably benign Het
Hcn3 T A 3: 89,060,201 (GRCm39) I148F probably damaging Het
Hdac10 T C 15: 89,009,961 (GRCm39) probably null Het
Hk3 C A 13: 55,156,518 (GRCm39) D619Y probably damaging Het
Ifi44 T A 3: 151,451,134 (GRCm39) R272S possibly damaging Het
Il1rap A C 16: 26,517,625 (GRCm39) D275A probably damaging Het
Irag2 A G 6: 145,113,710 (GRCm39) R293G possibly damaging Het
Itgam A T 7: 127,707,152 (GRCm39) N660I probably benign Het
Itpr3 T C 17: 27,332,793 (GRCm39) M1853T probably benign Het
Lrrc8c A C 5: 105,754,965 (GRCm39) K247Q probably damaging Het
Map3k21 T C 8: 126,668,858 (GRCm39) S815P probably benign Het
Mast4 A G 13: 102,888,068 (GRCm39) S1114P probably damaging Het
Myh8 C T 11: 67,194,591 (GRCm39) Q1601* probably null Het
Nhlrc2 A G 19: 56,558,959 (GRCm39) D148G probably damaging Het
Nos1 T A 5: 118,081,385 (GRCm39) S1196T probably benign Het
Nsmaf C T 4: 6,424,874 (GRCm39) probably null Het
Obscn T C 11: 58,890,449 (GRCm39) D7361G unknown Het
Or2t35 T C 14: 14,407,777 (GRCm38) V183A probably damaging Het
Or52ad1 C A 7: 102,996,085 (GRCm39) A17S probably benign Het
Or5bw2 C T 7: 6,573,359 (GRCm39) A123V probably damaging Het
Pank3 T G 11: 35,668,536 (GRCm39) M175R probably benign Het
Papolg A G 11: 23,829,868 (GRCm39) probably null Het
Pcdhb21 G A 18: 37,647,566 (GRCm39) D232N probably damaging Het
Pcdhb22 T C 18: 37,651,925 (GRCm39) F131S probably damaging Het
Pik3r6 G A 11: 68,419,608 (GRCm39) A140T possibly damaging Het
Pinlyp T C 7: 24,241,947 (GRCm39) T87A possibly damaging Het
Pld1 T C 3: 28,178,724 (GRCm39) S873P probably damaging Het
Pld5 T A 1: 176,102,295 (GRCm39) Y49F probably benign Het
Polq T C 16: 36,855,252 (GRCm39) V449A probably damaging Het
Prkca A G 11: 107,869,106 (GRCm39) V69A probably benign Het
Ptk6 A G 2: 180,844,075 (GRCm39) S75P possibly damaging Het
Ptprq G A 10: 107,418,391 (GRCm39) Q1662* probably null Het
Ptprt C A 2: 161,395,742 (GRCm39) A1144S probably damaging Het
Ryr1 T A 7: 28,735,500 (GRCm39) M4093L probably damaging Het
Scnn1a C T 6: 125,299,189 (GRCm39) L90F probably damaging Het
Slc25a19 G T 11: 115,508,423 (GRCm39) Y188* probably null Het
Slc31a1 C T 4: 62,303,866 (GRCm39) probably benign Het
Slc5a11 C G 7: 122,864,458 (GRCm39) S351R possibly damaging Het
Slc6a17 A G 3: 107,384,183 (GRCm39) L387P probably benign Het
Slitrk6 A T 14: 110,987,364 (GRCm39) L781H probably damaging Het
Spam1 T A 6: 24,797,837 (GRCm39) L331Q probably damaging Het
Spata32 A G 11: 103,100,125 (GRCm39) W127R probably damaging Het
Spring1 A G 5: 118,393,886 (GRCm39) E88G possibly damaging Het
Spta1 T G 1: 174,041,508 (GRCm39) I1324S probably damaging Het
St6galnac4 A G 2: 32,484,330 (GRCm39) Y176C probably damaging Het
Stk10 A G 11: 32,546,724 (GRCm39) E327G probably damaging Het
Stxbp5l T A 16: 36,954,646 (GRCm39) Y912F possibly damaging Het
Tchp G A 5: 114,858,243 (GRCm39) E459K probably benign Het
Terf2 C T 8: 107,822,842 (GRCm39) W100* probably null Het
Thoc2l T G 5: 104,666,077 (GRCm39) S200A probably benign Het
Thrsp T C 7: 97,066,634 (GRCm39) N26S probably damaging Het
Tln1 C A 4: 43,553,504 (GRCm39) R297L probably benign Het
Tmeff2 C A 1: 50,967,234 (GRCm39) T43N possibly damaging Het
Tmx1 C T 12: 70,499,947 (GRCm39) A2V possibly damaging Het
Tnks1bp1 T A 2: 84,902,481 (GRCm39) L1053Q probably damaging Het
Trmt10b A T 4: 45,304,286 (GRCm39) K107N probably damaging Het
Trpa1 A T 1: 14,955,972 (GRCm39) probably null Het
Trrap A G 5: 144,783,287 (GRCm39) K3371R probably damaging Het
Tuba3b G A 6: 145,563,995 (GRCm39) V14I probably benign Het
Usp19 T C 9: 108,371,439 (GRCm39) probably null Het
Usp28 C A 9: 48,950,401 (GRCm39) D615E possibly damaging Het
Utp20 T C 10: 88,657,931 (GRCm39) D43G probably benign Het
Vmn1r58 T G 7: 5,413,997 (GRCm39) K78Q possibly damaging Het
Vmn2r10 T C 5: 109,151,327 (GRCm39) M96V probably benign Het
Wdr90 T C 17: 26,079,023 (GRCm39) E273G probably damaging Het
Xpc C T 6: 91,468,208 (GRCm39) A860T probably benign Het
Zscan21 T C 5: 138,131,865 (GRCm39) I463T possibly 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
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
R3796:Rrm1 UTSW 7 102,114,910 (GRCm39) splice site probably null
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'- TGGCAGAAAGTGTAGCATCAGTCAG -3'
(R):5'- AGTGCTCAACCAACCTGCTTCC -3'

Sequencing Primer
(F):5'- GGATGTCTAAGTCACTGCATCAC -3'
(R):5'- GCTTCCAACCGTAGAAGTGC -3'
Posted On 2013-05-23