Incidental Mutation 'R2066:Mrm3'
ID 226698
Institutional Source Beutler Lab
Gene Symbol Mrm3
Ensembl Gene ENSMUSG00000038046
Gene Name mitochondrial rRNA methyltransferase 3
Synonyms 4833420N02Rik, Rnmtl1, HC90
MMRRC Submission 040071-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2066 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 76134562-76141451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76141147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 385 (D385V)
Ref Sequence ENSEMBL: ENSMUSP00000042882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040577]
AlphaFold Q5ND52
Predicted Effect probably damaging
Transcript: ENSMUST00000040577
AA Change: D385V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
AA Change: D385V

DomainStartEndE-ValueType
SpoU_sub_bind 124 195 1.99e-5 SMART
Pfam:SpoU_methylase 209 398 2.3e-24 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155526
Meta Mutation Damage Score 0.7207 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (79/79)
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 66,964,308 (GRCm39) I184L probably benign Het
9530002B09Rik T A 4: 122,583,115 (GRCm39) probably benign Het
Acadl C T 1: 66,880,905 (GRCm39) probably null Het
Acss1 G A 2: 150,510,051 (GRCm39) Q23* probably null Het
Afap1l1 A T 18: 61,872,193 (GRCm39) probably null Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Amy2a1 T C 3: 113,324,217 (GRCm39) I108V probably benign Het
Ano5 T G 7: 51,235,134 (GRCm39) L639R probably damaging Het
Arhgap26 T C 18: 39,439,781 (GRCm39) S71P probably damaging Het
B3gnt2 A G 11: 22,786,735 (GRCm39) L151P probably damaging Het
Bach1 A T 16: 87,526,513 (GRCm39) K658N probably damaging Het
Bdnf C A 2: 109,554,247 (GRCm39) T207K probably damaging Het
Bod1l G T 5: 41,962,499 (GRCm39) T2746K probably damaging Het
Brwd1 A G 16: 95,847,665 (GRCm39) S652P probably benign Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Clasp2 T A 9: 113,735,225 (GRCm39) I1021N possibly damaging Het
Cnep1r1 G T 8: 88,845,445 (GRCm39) probably benign Het
Cntn6 C T 6: 104,838,783 (GRCm39) R946* probably null Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnajc13 A T 9: 104,098,640 (GRCm39) I471N probably benign Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Emx2 A G 19: 59,450,130 (GRCm39) N149S probably benign Het
Fbln7 G T 2: 128,719,386 (GRCm39) R61L probably damaging Het
Fgb C A 3: 82,956,996 (GRCm39) D25Y probably benign Het
Filip1 A G 9: 79,727,498 (GRCm39) S374P probably damaging Het
Fry T A 5: 150,293,584 (GRCm39) probably benign Het
Gm12695 T C 4: 96,657,963 (GRCm39) T69A probably benign Het
Gm2959 A G 14: 42,235,658 (GRCm39) noncoding transcript Het
Gm9912 T C 3: 148,890,795 (GRCm39) T113A unknown Het
Hdlbp A G 1: 93,349,602 (GRCm39) probably benign Het
Hunk G A 16: 90,278,133 (GRCm39) probably null Het
Ifnb1 T A 4: 88,440,996 (GRCm39) I6F possibly damaging Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Ints1 A G 5: 139,753,251 (GRCm39) V720A probably benign Het
Invs T A 4: 48,396,287 (GRCm39) L320Q probably damaging Het
Jpt2 G A 17: 25,167,713 (GRCm39) Q79* probably null Het
Lingo2 A G 4: 35,709,179 (GRCm39) L267P probably benign Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Meiob G T 17: 25,037,290 (GRCm39) R56L probably damaging Het
Mindy3 A T 2: 12,424,060 (GRCm39) S2T probably damaging Het
Mrto4 T C 4: 139,076,334 (GRCm39) K86E probably benign Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Nav1 C T 1: 135,376,742 (GRCm39) R1694Q probably damaging Het
Nbea A G 3: 55,875,567 (GRCm39) V1701A probably damaging Het
Nipal4 T G 11: 46,047,622 (GRCm39) D104A probably damaging Het
Npas4 A G 19: 5,037,442 (GRCm39) V284A probably damaging Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Obscn G A 11: 59,026,558 (GRCm39) A215V possibly damaging Het
Or4c113 A G 2: 88,885,243 (GRCm39) Y176H probably damaging Het
Or8b12i G T 9: 20,082,850 (GRCm39) Q6K probably benign Het
Or8g24 T C 9: 38,989,510 (GRCm39) Y177C probably damaging Het
Pgs1 G A 11: 117,905,396 (GRCm39) probably benign Het
Phc2 T C 4: 128,640,929 (GRCm39) F672S probably damaging Het
Phldb2 A T 16: 45,591,121 (GRCm39) L970Q probably damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Ppip5k1 A G 2: 121,173,352 (GRCm39) probably benign Het
Prune2 A G 19: 17,098,042 (GRCm39) D1182G possibly damaging Het
Psg25 G A 7: 18,263,487 (GRCm39) T112I probably damaging Het
Sec61g T C 11: 16,458,124 (GRCm39) T24A probably benign Het
Skint1 T A 4: 111,882,730 (GRCm39) V258D probably benign Het
Sorbs1 T C 19: 40,353,472 (GRCm39) probably null Het
Sox2 C A 3: 34,705,456 (GRCm39) Q298K possibly damaging Het
Spatc1 T A 15: 76,167,737 (GRCm39) probably null Het
Szt2 T C 4: 118,231,177 (GRCm39) M2529V unknown Het
Thrap3 T C 4: 126,069,189 (GRCm39) Y654C possibly damaging Het
Tpp2 T G 1: 44,017,598 (GRCm39) I734S possibly damaging Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ttc28 C A 5: 111,373,799 (GRCm39) F1078L probably benign Het
Ttn T C 2: 76,544,717 (GRCm39) N32795S probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vstm2a A T 11: 16,211,483 (GRCm39) I98F probably benign Het
Zdhhc13 T A 7: 48,466,175 (GRCm39) V284D probably benign Het
Zfp668 C A 7: 127,466,203 (GRCm39) R327L probably damaging Het
Zgrf1 T C 3: 127,406,999 (GRCm39) C1589R probably damaging 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
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
R8010:Mrm3 UTSW 11 76,141,173 (GRCm39) missense probably damaging 1.00
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'- TCGCCGATTCTTAAAGTTTCACAAG -3'
(R):5'- TGTGTTGTCACCTTGGCCAG -3'

Sequencing Primer
(F):5'- TTTCACAAGTATGAAGAGGACCTAG -3'
(R):5'- ACCTTGGCCAGCCTCCTAG -3'
Posted On 2014-09-17