Incidental Mutation 'R4416:Rrm1'
ID 500613
Institutional Source Beutler Lab
Gene Symbol Rrm1
Ensembl Gene ENSMUSG00000030978
Gene Name ribonucleotide reductase M1
Synonyms RnrM1
MMRRC Submission 041137-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R4416 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 102090902-102118978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102097008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 96 (D96G)
Ref Sequence ENSEMBL: ENSMUSP00000033283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033283] [ENSMUST00000211720]
AlphaFold P07742
Predicted Effect probably benign
Transcript: ENSMUST00000033283
AA Change: D96G

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: D96G

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 noncoding transcript
Transcript: ENSMUST00000210751
Predicted Effect probably benign
Transcript: ENSMUST00000211720
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik T A 15: 59,888,272 (GRCm39) E56V possibly damaging Het
Adam28 A G 14: 68,859,531 (GRCm39) probably null Het
Bnc1 G T 7: 81,618,708 (GRCm39) H786N probably benign Het
Cav1 T A 6: 17,339,248 (GRCm39) M100K probably benign Het
Cdk9 A G 2: 32,598,084 (GRCm39) L273P probably damaging Het
Celsr1 A G 15: 85,812,200 (GRCm39) V2065A probably damaging Het
Cyp2c54 T C 19: 40,026,703 (GRCm39) Q484R probably benign Het
Elfn1 T C 5: 139,957,949 (GRCm39) S318P possibly damaging Het
Fbxl6 T C 15: 76,421,924 (GRCm39) E205G possibly damaging Het
Fhip2a G T 19: 57,373,829 (GRCm39) probably null Het
Frmd6 T A 12: 70,924,023 (GRCm39) Y94N probably benign Het
Gdpd1 A T 11: 86,926,114 (GRCm39) V277D probably benign Het
Grik1 C A 16: 87,848,349 (GRCm39) V140L probably benign Het
Grpel1 A G 5: 36,628,616 (GRCm39) H175R probably damaging Het
Gtdc1 G T 2: 44,465,602 (GRCm39) probably null Het
Hivep2 A T 10: 14,004,914 (GRCm39) Q504L probably benign Het
Icos A T 1: 61,033,849 (GRCm39) I160L probably benign Het
Igsf9b G T 9: 27,234,213 (GRCm39) C442F probably damaging Het
Itga10 T C 3: 96,565,562 (GRCm39) V1062A possibly damaging Het
Lrp1b C T 2: 40,553,679 (GRCm39) V386I unknown Het
Lrp2 G T 2: 69,357,575 (GRCm39) F409L probably benign Het
Nadk T G 4: 155,672,183 (GRCm39) Y291* probably null Het
Nudt6 A T 3: 37,459,378 (GRCm39) probably null Het
Oit3 T C 10: 59,263,925 (GRCm39) Y403C probably damaging Het
Or2ag1b G A 7: 106,288,218 (GRCm39) T240I probably benign Het
Or6c70 T C 10: 129,709,826 (GRCm39) T267A probably benign Het
Or8d6 A G 9: 39,853,724 (GRCm39) H56R probably damaging Het
Pasd1 G A X: 70,983,225 (GRCm39) C399Y possibly damaging Het
Pds5b C T 5: 150,659,861 (GRCm39) P275S probably damaging Het
Pdzd7 T A 19: 45,029,019 (GRCm39) E117V probably damaging Het
Pik3ca T C 3: 32,515,679 (GRCm39) V784A probably damaging Het
Polr3e T C 7: 120,538,280 (GRCm39) probably null Het
Rab3gap2 A T 1: 185,014,544 (GRCm39) D1231V probably benign Het
Rapgef2 C A 3: 78,976,364 (GRCm39) G1481* probably null Het
Rho G A 6: 115,912,191 (GRCm39) V76I probably benign Het
Slc35b2 G A 17: 45,877,355 (GRCm39) V161M probably benign Het
Spmip6 T C 4: 41,505,574 (GRCm39) T183A possibly damaging Het
Srp9 A T 1: 181,958,976 (GRCm39) M50L probably benign Het
Stox1 T C 10: 62,495,348 (GRCm39) N975S probably benign Het
Sult1d1 A G 5: 87,706,435 (GRCm39) F169S probably damaging Het
Tmem63c C G 12: 87,128,676 (GRCm39) T567R probably benign Het
Tmf1 G T 6: 97,155,949 (GRCm39) F12L probably damaging Het
Ush2a T C 1: 188,089,071 (GRCm39) I342T probably damaging Het
Veph1 A T 3: 65,968,606 (GRCm39) N712K probably damaging Het
Vti1a T G 19: 55,369,380 (GRCm39) S91A 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
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'- TTGCTGATAAGCTATAAGACCTAACAT -3'
(R):5'- TGTCTTCAAGATTATGACCAGGGT -3'

Sequencing Primer
(F):5'- GAGTATTTGCTCTGCTAGG -3'
(R):5'- TTCAGAGGACCAGGGTTCAATTCC -3'
Posted On 2017-12-01