Incidental Mutation 'IGL03251:Rrm1'
ID 414927
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rrm1
Ensembl Gene ENSMUSG00000030978
Gene Name ribonucleotide reductase M1
Synonyms RnrM1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock # IGL03251
Quality Score
Status
Chromosome 7
Chromosomal Location 102441695-102469771 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 102457206 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 311 (F311L)
Ref Sequence ENSEMBL: ENSMUSP00000033283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033283]
AlphaFold P07742
Predicted Effect probably damaging
Transcript: ENSMUST00000033283
AA Change: F311L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000033283
Gene: ENSMUSG00000030978
AA Change: F311L

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 T C 7: 45,982,237 probably benign Het
Cdkl2 A G 5: 92,033,726 I132T probably damaging Het
Ckap4 A T 10: 84,528,605 I198N probably damaging Het
Col6a3 C T 1: 90,810,176 R600H probably damaging Het
Dnah7a A G 1: 53,647,274 I239T probably benign Het
Ei24 A G 9: 36,780,109 *359R probably null Het
Elk3 A T 10: 93,254,821 probably null Het
Eps8l2 T A 7: 141,342,962 M46K probably damaging Het
Frem2 G T 3: 53,572,308 T1988N probably benign Het
Gm5431 T C 11: 48,894,721 K276E probably benign Het
Gm8220 T A 14: 44,288,272 C133S possibly damaging Het
Hectd2 T C 19: 36,585,526 L168P probably damaging Het
Hydin A T 8: 110,490,596 D1372V probably damaging Het
Isl1 T C 13: 116,305,449 S83G probably benign Het
Lrp1b A G 2: 40,600,267 I107T probably benign Het
Mlc1 A T 15: 88,974,731 V117D possibly damaging Het
Ndc1 A G 4: 107,380,659 E220G possibly damaging Het
Nlrp4b T A 7: 10,714,500 M210K probably benign Het
Olfr372 A T 8: 72,058,076 Y132F probably damaging Het
Plch1 T C 3: 63,784,002 E60G possibly damaging Het
Pld1 G A 3: 28,088,665 R674H probably benign Het
Ppp1r13l G A 7: 19,368,869 probably benign Het
Ppp2cb A T 8: 33,610,651 probably benign Het
Rchy1 G T 5: 91,962,643 A26D probably benign Het
Scrn1 G A 6: 54,548,337 R16* probably null Het
Slc24a4 T C 12: 102,222,825 L173P probably damaging Het
Srgap1 T C 10: 121,804,921 probably null Het
Tube1 T A 10: 39,134,981 probably benign Het
Utp20 C T 10: 88,817,326 probably null Het
Vmn2r55 T C 7: 12,671,193 probably benign Het
Other mutations in Rrm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Rrm1 APN 7 102454507 nonsense probably null
IGL01431:Rrm1 APN 7 102457552 splice site probably benign
IGL03401:Rrm1 APN 7 102465744 missense possibly damaging 0.81
Arabica UTSW 7 102460351 missense probably damaging 1.00
Pentose UTSW 7 102460856 splice site probably null
R0454:Rrm1 UTSW 7 102466926 missense probably damaging 1.00
R0548:Rrm1 UTSW 7 102467067 critical splice donor site probably null
R0759:Rrm1 UTSW 7 102457561 missense probably benign 0.32
R1575:Rrm1 UTSW 7 102456514 missense probably damaging 1.00
R1586:Rrm1 UTSW 7 102466905 makesense probably null
R1625:Rrm1 UTSW 7 102468347 missense probably damaging 0.98
R2207:Rrm1 UTSW 7 102442026 start codon destroyed probably null 0.98
R2432:Rrm1 UTSW 7 102443072 missense probably benign 0.03
R2513:Rrm1 UTSW 7 102460689 missense probably damaging 0.99
R3796:Rrm1 UTSW 7 102465703 splice site probably null
R3914:Rrm1 UTSW 7 102457174 missense probably damaging 1.00
R4179:Rrm1 UTSW 7 102457198 missense probably damaging 1.00
R4302:Rrm1 UTSW 7 102447824 missense probably benign 0.00
R4379:Rrm1 UTSW 7 102446593 missense probably damaging 1.00
R4416:Rrm1 UTSW 7 102447801 missense probably benign 0.06
R4690:Rrm1 UTSW 7 102447879 missense probably benign
R4939:Rrm1 UTSW 7 102466924 missense probably benign 0.34
R5433:Rrm1 UTSW 7 102465767 missense probably damaging 0.97
R5445:Rrm1 UTSW 7 102451023 missense possibly damaging 0.77
R6120:Rrm1 UTSW 7 102460856 splice site probably null
R6198:Rrm1 UTSW 7 102446729 critical splice donor site probably null
R6369:Rrm1 UTSW 7 102446702 missense probably damaging 0.97
R6699:Rrm1 UTSW 7 102460825 missense probably damaging 1.00
R7009:Rrm1 UTSW 7 102460334 missense probably damaging 1.00
R7491:Rrm1 UTSW 7 102454557 missense probably damaging 1.00
R8024:Rrm1 UTSW 7 102457265 missense probably benign 0.00
R8276:Rrm1 UTSW 7 102460852 critical splice donor site probably null
R8713:Rrm1 UTSW 7 102460351 missense probably damaging 1.00
R8963:Rrm1 UTSW 7 102456532 missense probably benign 0.23
R8968:Rrm1 UTSW 7 102468338 missense probably benign 0.03
R9028:Rrm1 UTSW 7 102460398 missense probably damaging 1.00
Posted On 2016-08-02