Incidental Mutation 'R5433:Rrm1'
ID 428154
Institutional Source Beutler Lab
Gene Symbol Rrm1
Ensembl Gene ENSMUSG00000030978
Gene Name ribonucleotide reductase M1
Synonyms RnrM1
MMRRC Submission 042998-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R5433 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 102090902-102118978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102114974 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold P07742
Predicted Effect possibly damaging
Transcript: ENSMUST00000033283
AA Change: N652I

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: N652I

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 damaging
Transcript: ENSMUST00000209630
AA Change: N37I

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210543
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 100% (58/58)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,964,657 (GRCm39) S24G probably damaging Het
1810064F22Rik A G 9: 22,119,039 (GRCm39) noncoding transcript Het
Aacs A T 5: 125,592,078 (GRCm39) M589L probably benign Het
Adamts8 A C 9: 30,873,012 (GRCm39) H739P probably benign Het
Atp8b2 T C 3: 89,860,216 (GRCm39) probably benign Het
BC030500 A G 8: 59,366,043 (GRCm39) probably benign Het
Btnl9 T A 11: 49,066,830 (GRCm39) probably benign Het
Cd74 G T 18: 60,940,993 (GRCm39) A31S probably benign Het
Ceacam3 G A 7: 16,893,808 (GRCm39) A440T possibly damaging Het
Ces1d G A 8: 93,912,664 (GRCm39) T258I probably benign Het
Col10a1 A G 10: 34,266,735 (GRCm39) probably benign Het
Coro1b C T 19: 4,203,449 (GRCm39) A430V probably benign Het
Cyp2c65 A T 19: 39,081,928 (GRCm39) I485L probably benign Het
Dio1 A T 4: 107,163,977 (GRCm39) probably benign Het
Dmxl1 G A 18: 50,000,966 (GRCm39) probably null Het
Dynlt5 A G 4: 102,859,700 (GRCm39) E84G possibly damaging Het
Elp6 A G 9: 110,144,851 (GRCm39) Y136C probably damaging Het
Gon4l A T 3: 88,803,532 (GRCm39) Q1382L possibly damaging Het
Guca1a T C 17: 47,711,295 (GRCm39) E17G probably damaging Het
Gucy2d G A 7: 98,098,982 (GRCm39) G267E probably damaging Het
Gvin3 T A 7: 106,199,314 (GRCm39) noncoding transcript Het
Hspg2 T A 4: 137,256,105 (GRCm39) probably null Het
Il1a G T 2: 129,149,821 (GRCm39) D26E possibly damaging Het
Il22b T A 10: 118,130,789 (GRCm39) I36F probably damaging Het
Kcna1 A T 6: 126,620,075 (GRCm39) F82I probably damaging Het
Klhl18 G C 9: 110,265,195 (GRCm39) N335K possibly damaging Het
Lamtor5 T G 3: 107,189,323 (GRCm39) C120G probably benign Het
Lars1 A G 18: 42,384,363 (GRCm39) C72R possibly damaging Het
Lrrfip1 T G 1: 91,014,848 (GRCm39) probably null Het
Mapkapk3 T C 9: 107,133,491 (GRCm39) D349G probably damaging Het
Mknk2 A T 10: 80,503,059 (GRCm39) I421N probably benign Het
Myh6 A G 14: 55,191,381 (GRCm39) I820T probably benign Het
Notch2 T G 3: 98,033,450 (GRCm39) V1182G probably damaging Het
Or1af1 T G 2: 37,109,684 (GRCm39) F61C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or2z2 C T 11: 58,346,680 (GRCm39) V32M probably damaging Het
Ppfia4 A T 1: 134,245,632 (GRCm39) S641T probably damaging Het
Prok1 T A 3: 107,146,949 (GRCm39) H6L probably benign Het
Ptprm A T 17: 67,000,468 (GRCm39) V1172E probably damaging Het
Rasal3 C T 17: 32,612,575 (GRCm39) R762Q probably benign Het
Rgs20 G T 1: 5,140,333 (GRCm39) A23E possibly damaging Het
Rprd1a T C 18: 24,640,288 (GRCm39) T163A probably benign Het
Shc4 T A 2: 125,481,350 (GRCm39) E520V probably damaging Het
Slc14a2 G T 18: 78,252,143 (GRCm39) P56Q probably damaging Het
Slc22a3 C T 17: 12,677,377 (GRCm39) G264S probably damaging Het
Svil A G 18: 5,059,294 (GRCm39) E770G probably damaging Het
Svop A G 5: 114,198,186 (GRCm39) V129A probably damaging Het
Szt2 A T 4: 118,232,663 (GRCm39) probably benign Het
Tcof1 T C 18: 60,951,105 (GRCm39) probably benign Het
Tmem30a T A 9: 79,687,930 (GRCm39) I80F probably damaging Het
Vmn2r16 G T 5: 109,511,708 (GRCm39) L638F probably damaging Het
Xkr7 T A 2: 152,896,244 (GRCm39) I366N probably damaging Het
Zer1 A G 2: 29,990,998 (GRCm39) probably benign 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
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
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'- GTGAAATGTCCTCCTCAGTTGTG -3'
(R):5'- GTGCAATTCTAGCACAACAATGC -3'

Sequencing Primer
(F):5'- CTCCTCAGTTGTGTAAAAATAGTGGG -3'
(R):5'- TGCAGAGAGACATTAATAGAACCTGC -3'
Posted On 2016-09-01