Incidental Mutation 'R1174:Mrm3'
ID 99839
Institutional Source Beutler Lab
Gene Symbol Mrm3
Ensembl Gene ENSMUSG00000038046
Gene Name mitochondrial rRNA methyltransferase 3
Synonyms 4833420N02Rik, Rnmtl1, HC90
MMRRC Submission 039247-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1174 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 76134562-76141451 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76140850 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 286 (V286A)
Ref Sequence ENSEMBL: ENSMUSP00000042882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040577]
AlphaFold Q5ND52
Predicted Effect probably damaging
Transcript: ENSMUST00000040577
AA Change: V286A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
AA Change: V286A

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.4%
  • 20x: 89.3%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik T A 16: 16,935,446 (GRCm39) H214L probably benign Het
Actn3 A G 19: 4,914,784 (GRCm39) L477P probably damaging Het
Adamts12 T C 15: 11,071,843 (GRCm39) V129A probably benign Het
Agxt2 T C 15: 10,373,837 (GRCm39) F81S probably damaging Het
Alpk1 T A 3: 127,474,459 (GRCm39) S515C probably damaging Het
Aoc1l3 C A 6: 48,967,173 (GRCm39) P707H probably damaging Het
Bivm A G 1: 44,165,942 (GRCm39) T131A probably benign Het
Borcs5 T A 6: 134,687,096 (GRCm39) N150K probably damaging Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Cox4i1 C A 8: 121,400,789 (GRCm39) N151K probably benign Het
Cpeb4 T C 11: 31,870,472 (GRCm39) L432P probably damaging Het
Dnajb11 T A 16: 22,689,423 (GRCm39) D281E probably damaging Het
Eml6 A G 11: 29,699,824 (GRCm39) S1771P possibly damaging Het
Fes A T 7: 80,027,699 (GRCm39) I815N probably damaging Het
Ghrhr T A 6: 55,365,254 (GRCm39) L416* probably null Het
Glipr1l2 C A 10: 111,919,371 (GRCm39) L31I possibly damaging Het
Gm1818 A G 12: 48,602,982 (GRCm39) noncoding transcript Het
Gpr149 A G 3: 62,511,888 (GRCm39) L37P probably damaging Het
Hdac1-ps A T 17: 78,799,507 (GRCm39) Y166F probably benign Het
Hoxa9 A G 6: 52,202,693 (GRCm39) I131T probably damaging Het
Idh1 G T 1: 65,200,319 (GRCm39) N348K probably benign Het
Klf6 A G 13: 5,911,711 (GRCm39) D25G probably benign Het
Laptm4a T C 12: 8,986,716 (GRCm39) V258A probably damaging Het
Lypd6b C T 2: 49,833,609 (GRCm39) A83V possibly damaging Het
Map3k19 A G 1: 127,751,617 (GRCm39) V578A probably benign Het
Mfsd13a T A 19: 46,363,125 (GRCm39) I511N probably benign Het
Muc6 C T 7: 141,234,368 (GRCm39) G708S probably damaging Het
Neurl4 T C 11: 69,794,547 (GRCm39) probably null Het
Pclo T C 5: 14,727,660 (GRCm39) probably benign Het
Pcnt A T 10: 76,228,878 (GRCm39) probably null Het
Pik3r4 G T 9: 105,540,373 (GRCm39) G754C probably damaging Het
Qtrt1 A G 9: 21,323,782 (GRCm39) T136A probably benign Het
Rgs12 T A 5: 35,123,809 (GRCm39) C531S probably benign Het
Rin1 C A 19: 5,105,231 (GRCm39) Q764K probably benign Het
Robo4 C T 9: 37,324,348 (GRCm39) R959W probably damaging Het
Rxfp2 T C 5: 149,975,021 (GRCm39) V210A probably benign Het
Serpinb9d C T 13: 33,384,608 (GRCm39) P195L probably benign Het
Sos1 A C 17: 80,753,037 (GRCm39) Y323* probably null Het
Spmip4 T A 6: 50,566,121 (GRCm39) K118M probably damaging Het
Ssxb8 T G X: 8,556,062 (GRCm39) H88P probably damaging Het
Tas2r140 T C 6: 133,031,834 (GRCm39) E308G probably benign Het
Tdo2 A T 3: 81,881,683 (GRCm39) S40R probably damaging Het
Tle4 C T 19: 14,445,626 (GRCm39) V207I probably benign Het
Txlnb A G 10: 17,718,504 (GRCm39) N445S probably benign Het
Ubap2l A T 3: 89,930,807 (GRCm39) S413T probably benign Het
Vangl2 G T 1: 171,832,353 (GRCm39) T501N probably damaging Het
Vmn2r12 A T 5: 109,240,720 (GRCm39) I131N probably benign Het
Vwa1 C T 4: 155,857,723 (GRCm39) G25D probably damaging Het
Zfp185 A T X: 72,042,929 (GRCm39) E138D possibly 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
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
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
Posted On 2014-01-15