Incidental Mutation 'IGL01431:Rrm1'
ID 84136
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrm1
Ensembl Gene ENSMUSG00000030978
Gene Name ribonucleotide reductase M1
Synonyms RnrM1
Accession Numbers
Essential gene? Probably essential (E-score: 0.971) question?
Stock # IGL01431
Quality Score
Status
Chromosome 7
Chromosomal Location 102441695-102469771 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 102457552 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000033283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033283]
AlphaFold P07742
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000209955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211786
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930430A15Rik A T 2: 111,225,395 (GRCm38) probably benign Het
Adamts7 A G 9: 90,207,785 (GRCm38) I897T possibly damaging Het
Aqp2 G A 15: 99,579,420 (GRCm38) V90M possibly damaging Het
Atf6 T C 1: 170,853,002 (GRCm38) probably benign Het
Cdh3 T C 8: 106,547,669 (GRCm38) Y607H probably damaging Het
Cer1 T A 4: 82,882,831 (GRCm38) E198D probably benign Het
Dscam A G 16: 96,652,078 (GRCm38) probably null Het
Ecel1 C T 1: 87,151,504 (GRCm38) R484H probably damaging Het
Entpd7 C A 19: 43,729,839 (GRCm38) H575Q probably benign Het
F11r T C 1: 171,462,909 (GRCm38) V279A probably damaging Het
Gm17093 T A 14: 44,521,665 (GRCm38) probably benign Het
Got1 T A 19: 43,503,049 (GRCm38) K321* probably null Het
Gpn1 T C 5: 31,507,538 (GRCm38) V302A probably benign Het
Hivep1 G T 13: 42,158,017 (GRCm38) K1244N probably damaging Het
Idh3b T C 2: 130,281,897 (GRCm38) T116A possibly damaging Het
Itgb4 C A 11: 116,006,457 (GRCm38) probably benign Het
Mybl1 G T 1: 9,672,647 (GRCm38) L579I probably damaging Het
Myh14 T A 7: 44,614,358 (GRCm38) T1694S probably null Het
Mylk3 T C 8: 85,336,401 (GRCm38) D537G probably damaging Het
Myo1d A C 11: 80,674,839 (GRCm38) F387V probably damaging Het
Nek9 T C 12: 85,314,587 (GRCm38) Y448C probably benign Het
Olfr1090 A T 2: 86,754,164 (GRCm38) H191Q probably benign Het
Paxbp1 T C 16: 91,035,916 (GRCm38) probably benign Het
Retreg2 T A 1: 75,145,105 (GRCm38) probably null Het
Ripply3 G A 16: 94,328,543 (GRCm38) C16Y possibly damaging Het
Robo3 G A 9: 37,419,111 (GRCm38) probably benign Het
Rsad2 T A 12: 26,448,667 (GRCm38) R269S probably benign Het
Sbp A T 17: 23,945,348 (GRCm38) probably benign Het
Schip1 A T 3: 68,617,777 (GRCm38) Q162L probably damaging Het
Senp1 T C 15: 98,082,263 (GRCm38) Y67C probably damaging Het
Slc25a25 C T 2: 32,419,091 (GRCm38) R233K probably damaging Het
Smoc1 C A 12: 81,152,751 (GRCm38) S220* probably null Het
Stab1 C A 14: 31,148,995 (GRCm38) R1299I probably benign Het
Stk17b A G 1: 53,765,915 (GRCm38) probably benign Het
Tmc7 T G 7: 118,552,762 (GRCm38) D312A probably damaging Het
Vmn1r79 T C 7: 12,176,400 (GRCm38) S70P possibly damaging Het
Zfc3h1 C A 10: 115,423,223 (GRCm38) T1591K possibly damaging Het
Other mutations in Rrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Rrm1 APN 7 102,454,507 (GRCm38) nonsense probably null
IGL03251:Rrm1 APN 7 102,457,206 (GRCm38) missense probably damaging 1.00
IGL03401:Rrm1 APN 7 102,465,744 (GRCm38) missense possibly damaging 0.81
Arabica UTSW 7 102,460,351 (GRCm38) missense probably damaging 1.00
Pentose UTSW 7 102,460,856 (GRCm38) splice site probably null
R0454:Rrm1 UTSW 7 102,466,926 (GRCm38) missense probably damaging 1.00
R0548:Rrm1 UTSW 7 102,467,067 (GRCm38) critical splice donor site probably null
R0759:Rrm1 UTSW 7 102,457,561 (GRCm38) missense probably benign 0.32
R1575:Rrm1 UTSW 7 102,456,514 (GRCm38) missense probably damaging 1.00
R1586:Rrm1 UTSW 7 102,466,905 (GRCm38) makesense probably null
R1625:Rrm1 UTSW 7 102,468,347 (GRCm38) missense probably damaging 0.98
R2207:Rrm1 UTSW 7 102,442,026 (GRCm38) start codon destroyed probably null 0.98
R2432:Rrm1 UTSW 7 102,443,072 (GRCm38) missense probably benign 0.03
R2513:Rrm1 UTSW 7 102,460,689 (GRCm38) missense probably damaging 0.99
R3796:Rrm1 UTSW 7 102,465,703 (GRCm38) splice site probably null
R3914:Rrm1 UTSW 7 102,457,174 (GRCm38) missense probably damaging 1.00
R4179:Rrm1 UTSW 7 102,457,198 (GRCm38) missense probably damaging 1.00
R4302:Rrm1 UTSW 7 102,447,824 (GRCm38) missense probably benign 0.00
R4379:Rrm1 UTSW 7 102,446,593 (GRCm38) missense probably damaging 1.00
R4416:Rrm1 UTSW 7 102,447,801 (GRCm38) missense probably benign 0.06
R4690:Rrm1 UTSW 7 102,447,879 (GRCm38) missense probably benign
R4939:Rrm1 UTSW 7 102,466,924 (GRCm38) missense probably benign 0.34
R5433:Rrm1 UTSW 7 102,465,767 (GRCm38) missense probably damaging 0.97
R5445:Rrm1 UTSW 7 102,451,023 (GRCm38) missense possibly damaging 0.77
R6120:Rrm1 UTSW 7 102,460,856 (GRCm38) splice site probably null
R6198:Rrm1 UTSW 7 102,446,729 (GRCm38) critical splice donor site probably null
R6369:Rrm1 UTSW 7 102,446,702 (GRCm38) missense probably damaging 0.97
R6699:Rrm1 UTSW 7 102,460,825 (GRCm38) missense probably damaging 1.00
R7009:Rrm1 UTSW 7 102,460,334 (GRCm38) missense probably damaging 1.00
R7491:Rrm1 UTSW 7 102,454,557 (GRCm38) missense probably damaging 1.00
R8024:Rrm1 UTSW 7 102,457,265 (GRCm38) missense probably benign 0.00
R8276:Rrm1 UTSW 7 102,460,852 (GRCm38) critical splice donor site probably null
R8713:Rrm1 UTSW 7 102,460,351 (GRCm38) missense probably damaging 1.00
R8963:Rrm1 UTSW 7 102,456,532 (GRCm38) missense probably benign 0.23
R8968:Rrm1 UTSW 7 102,468,338 (GRCm38) missense probably benign 0.03
R9028:Rrm1 UTSW 7 102,460,398 (GRCm38) missense probably damaging 1.00
R9442:Rrm1 UTSW 7 102,459,391 (GRCm38) missense probably damaging 1.00
Posted On 2013-11-11