Incidental Mutation 'R8010:Mrm3'
ID 616866
Institutional Source Beutler Lab
Gene Symbol Mrm3
Ensembl Gene ENSMUSG00000038046
Gene Name mitochondrial rRNA methyltransferase 3
Synonyms 4833420N02Rik, Rnmtl1, HC90
MMRRC Submission 046050-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8010 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 76134562-76141451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76141173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 394 (S394C)
Ref Sequence ENSEMBL: ENSMUSP00000042882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040577]
AlphaFold Q5ND52
Predicted Effect probably damaging
Transcript: ENSMUST00000040577
AA Change: S394C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
AA Change: S394C

DomainStartEndE-ValueType
SpoU_sub_bind 124 195 1.99e-5 SMART
Pfam:SpoU_methylase 209 398 2.3e-24 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Efficient translation of mitochondrial-derived transcripts requires proper assembly of the large subunit of the mitochondrial ribosome. Central to the biogenesis of this large subunit is the A-loop of mitochondrial 16S rRNA, which is modified by three rRNA methyltransferases located near mtDNA nucleoids. The protein encoded by this gene methylates G(1370) of 16S rRNA, and this modification is necessary for proper ribosomal large subnit assembly. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,557,303 (GRCm39) H130L probably benign Het
Abca1 A G 4: 53,127,600 (GRCm39) S140P probably benign Het
Aoc1 T C 6: 48,882,582 (GRCm39) Y153H probably benign Het
Arhgdib A G 6: 136,903,720 (GRCm39) I118T probably damaging Het
Atp1a3 T A 7: 24,680,070 (GRCm39) E865V possibly damaging Het
Atrnl1 T C 19: 57,670,878 (GRCm39) V587A probably benign Het
Ccdc107 G T 4: 43,495,768 (GRCm39) E199* probably null Het
Cd55 A T 1: 130,387,353 (GRCm39) D148E probably benign Het
Cdc42ep1 C T 15: 78,731,999 (GRCm39) T148I possibly damaging Het
Cep164 A T 9: 45,734,969 (GRCm39) D19E unknown Het
Chsy3 A G 18: 59,543,226 (GRCm39) Y788C probably damaging Het
Cttnbp2 G C 6: 18,426,092 (GRCm39) A762G possibly damaging Het
Cubn A G 2: 13,340,897 (GRCm39) probably null Het
Ddr1 T A 17: 36,002,384 (GRCm39) M175L possibly damaging Het
Dicer1 C A 12: 104,658,391 (GRCm39) K1850N probably damaging Het
Dnajc6 C T 4: 101,475,611 (GRCm39) R495C probably benign Het
Ecpas T A 4: 58,832,681 (GRCm39) Q893L unknown Het
Fbh1 A T 2: 11,772,443 (GRCm39) N79K probably benign Het
Frmpd1 T A 4: 45,284,272 (GRCm39) V1031D possibly damaging Het
Gm7298 A G 6: 121,712,542 (GRCm39) E118G probably benign Het
Hnrnpll T C 17: 80,369,385 (GRCm39) T13A unknown Het
Jcad A G 18: 4,674,581 (GRCm39) D781G probably benign Het
Kitl A T 10: 99,887,765 (GRCm39) T25S probably benign Het
Krt5 T C 15: 101,620,791 (GRCm39) D152G probably damaging Het
Krtap5-5 T C 7: 141,783,648 (GRCm39) M1V probably null Het
Ktn1 C T 14: 47,943,230 (GRCm39) T862I possibly damaging Het
Mapk4 A T 18: 74,063,647 (GRCm39) I525N probably benign Het
Megf6 T C 4: 154,354,964 (GRCm39) F1457S probably benign Het
Mtmr4 T G 11: 87,489,690 (GRCm39) V71G probably damaging Het
Nek8 T C 11: 78,067,422 (GRCm39) Y4C probably damaging Het
Or13g1 T A 7: 85,956,260 (GRCm39) E20D probably benign Het
Or5ac21 T C 16: 59,123,867 (GRCm39) M117T probably damaging Het
Or7g30 A T 9: 19,352,988 (GRCm39) I260L probably benign Het
Pla2r1 T C 2: 60,345,304 (GRCm39) T351A probably benign Het
Plcb4 C T 2: 135,749,480 (GRCm39) T49M probably benign Het
Psg20 T C 7: 18,414,992 (GRCm39) D301G probably benign Het
Ptpn13 C T 5: 103,707,803 (GRCm39) Q1455* probably null Het
Rbbp8 A T 18: 11,855,290 (GRCm39) N505I possibly damaging Het
Rgs18 A G 1: 144,631,738 (GRCm39) C125R probably benign Het
Rpap2 G A 5: 107,751,471 (GRCm39) C105Y probably damaging Het
Scn10a C T 9: 119,490,233 (GRCm39) G570R possibly damaging Het
Sell C T 1: 163,893,081 (GRCm39) T99I possibly damaging Het
Slc14a1 A T 18: 78,159,704 (GRCm39) M63K probably benign Het
Sp140l2 G A 1: 85,224,671 (GRCm39) S288L possibly damaging Het
Syne2 A T 12: 75,977,512 (GRCm39) D1319V probably benign Het
Tdp2 C T 13: 25,020,010 (GRCm39) T99I probably damaging Het
Tet3 A T 6: 83,380,228 (GRCm39) S647T unknown Het
Tpd52l1 T G 10: 31,234,009 (GRCm39) D48A possibly damaging Het
Ttll10 T C 4: 156,131,618 (GRCm39) D169G probably damaging Het
Wars2 C A 3: 99,124,146 (GRCm39) L336I probably benign Het
Wdfy4 C A 14: 32,693,584 (GRCm39) W2906L Het
Xdh A T 17: 74,216,312 (GRCm39) Y711* probably null Het
Xirp1 T A 9: 119,846,890 (GRCm39) R664S probably benign Het
Other mutations in Mrm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Mrm3 APN 11 76,135,319 (GRCm39) missense probably damaging 1.00
IGL02712:Mrm3 APN 11 76,134,683 (GRCm39) missense possibly damaging 0.87
IGL03349:Mrm3 APN 11 76,140,772 (GRCm39) missense probably damaging 1.00
Sam-i-am UTSW 11 76,138,286 (GRCm39) missense possibly damaging 0.94
P0026:Mrm3 UTSW 11 76,138,326 (GRCm39) missense probably damaging 1.00
R0118:Mrm3 UTSW 11 76,140,781 (GRCm39) missense possibly damaging 0.94
R1174:Mrm3 UTSW 11 76,140,850 (GRCm39) missense probably damaging 1.00
R2066:Mrm3 UTSW 11 76,141,147 (GRCm39) missense probably damaging 1.00
R2114:Mrm3 UTSW 11 76,135,347 (GRCm39) missense possibly damaging 0.49
R3904:Mrm3 UTSW 11 76,135,112 (GRCm39) missense probably benign 0.05
R5591:Mrm3 UTSW 11 76,140,907 (GRCm39) missense probably benign
R7343:Mrm3 UTSW 11 76,140,726 (GRCm39) missense probably damaging 1.00
R7346:Mrm3 UTSW 11 76,141,002 (GRCm39) missense possibly damaging 0.51
R8355:Mrm3 UTSW 11 76,141,164 (GRCm39) missense possibly damaging 0.91
R8461:Mrm3 UTSW 11 76,135,158 (GRCm39) missense probably damaging 1.00
R9001:Mrm3 UTSW 11 76,141,234 (GRCm39) missense probably benign
R9371:Mrm3 UTSW 11 76,138,286 (GRCm39) missense possibly damaging 0.94
R9389:Mrm3 UTSW 11 76,140,856 (GRCm39) missense probably damaging 1.00
R9525:Mrm3 UTSW 11 76,141,104 (GRCm39) missense possibly damaging 0.61
Z1186:Mrm3 UTSW 11 76,138,221 (GRCm39) missense probably benign 0.00
Z1187:Mrm3 UTSW 11 76,138,221 (GRCm39) missense probably benign 0.00
Z1187:Mrm3 UTSW 11 76,134,903 (GRCm39) missense probably benign
Z1188:Mrm3 UTSW 11 76,138,221 (GRCm39) missense probably benign 0.00
Z1188:Mrm3 UTSW 11 76,134,903 (GRCm39) missense probably benign
Z1189:Mrm3 UTSW 11 76,138,221 (GRCm39) missense probably benign 0.00
Z1189:Mrm3 UTSW 11 76,134,903 (GRCm39) missense probably benign
Z1190:Mrm3 UTSW 11 76,138,221 (GRCm39) missense probably benign 0.00
Z1190:Mrm3 UTSW 11 76,134,903 (GRCm39) missense probably benign
Z1192:Mrm3 UTSW 11 76,138,221 (GRCm39) missense probably benign 0.00
Z1192:Mrm3 UTSW 11 76,134,903 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGCCCAAACTTGAGGTCCAG -3'
(R):5'- AAGGCACTGGGAATTTGGC -3'

Sequencing Primer
(F):5'- CCCAAACTTGAGGTCCAGAGTTATG -3'
(R):5'- GTTCCAGGGGATATGACACCTCTAC -3'
Posted On 2020-01-23