Incidental Mutation 'IGL03349:Mrm3'
ID419639
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mrm3
Ensembl Gene ENSMUSG00000038046
Gene Namemitochondrial rRNA methyltransferase 3
SynonymsRnmtl1, 4833420N02Rik, HC90
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03349
Quality Score
Status
Chromosome11
Chromosomal Location76243715-76250619 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 76249946 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 260 (H260L)
Ref Sequence ENSEMBL: ENSMUSP00000042882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040577]
Predicted Effect probably damaging
Transcript: ENSMUST00000040577
AA Change: H260L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
AA Change: H260L

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
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
Adgrv1 A G 13: 81,481,336 Y3648H probably benign Het
Akr1c20 T A 13: 4,508,250 R172* probably null Het
Apba1 A T 19: 23,917,575 E458D probably benign Het
Atg2a T A 19: 6,258,024 V1590D possibly damaging Het
Atp13a4 A G 16: 29,456,671 S332P probably benign Het
Atp8b2 A T 3: 89,957,817 F163I probably damaging Het
Azin2 A T 4: 128,946,114 Y228* probably null Het
Cd109 C T 9: 78,636,485 H104Y probably benign Het
Ces2a G T 8: 104,734,080 L3F probably damaging Het
Crebbp A G 16: 4,117,358 V889A possibly damaging Het
Crim1 A T 17: 78,355,150 K801* probably null Het
Cxcr1 T C 1: 74,192,528 T112A possibly damaging Het
Cyp1a2 A G 9: 57,679,875 S378P possibly damaging Het
Cyp2c67 T C 19: 39,643,684 Y80C probably damaging Het
Dennd4a T C 9: 64,888,974 W761R probably damaging Het
Dgki C T 6: 37,097,627 probably null Het
Dnase1l3 T C 14: 7,984,146 T89A probably benign Het
Dock4 C A 12: 40,733,310 Q748K probably benign Het
Elmo3 A G 8: 105,306,388 E68G possibly damaging Het
Fer1l4 C A 2: 156,044,734 E692* probably null Het
Fkbp9 T A 6: 56,849,718 M101K probably damaging Het
Gm4763 T A 7: 24,722,836 S163C probably damaging Het
Grin1 C A 2: 25,310,436 V225L probably benign Het
Gucy2d T C 7: 98,449,841 V288A possibly damaging Het
Heatr5b C A 17: 78,755,320 K1933N probably benign Het
Hsdl1 A T 8: 119,565,697 S260T probably benign Het
Hspg2 T C 4: 137,560,522 probably benign Het
Ift172 A T 5: 31,284,130 V220E probably benign Het
Igkv12-47 C T 6: 69,750,866 noncoding transcript Het
Ism1 C T 2: 139,731,975 R82* probably null Het
Lrch3 A G 16: 32,955,324 T187A probably damaging Het
Ltbr T A 6: 125,312,366 D160V probably damaging Het
Mark3 A T 12: 111,628,250 K353I probably benign Het
Nckap1 T C 2: 80,525,560 Q627R probably benign Het
Neb T A 2: 52,278,952 Y1857F possibly damaging Het
Ntsr1 A G 2: 180,500,502 T29A probably benign Het
Ofcc1 C T 13: 40,072,752 G768D probably benign Het
Olfr181 T C 16: 58,925,960 M204V probably benign Het
Pde8b T C 13: 95,043,043 probably benign Het
Pld4 A T 12: 112,767,879 Q393L probably benign Het
Prss23 T C 7: 89,509,857 I335V probably benign Het
Prune2 A G 19: 17,123,346 I2071M probably damaging Het
Ptprz1 T A 6: 23,000,332 V807E probably damaging Het
Rnf20 G A 4: 49,655,936 A961T probably damaging Het
Slc25a24 A G 3: 109,149,549 Q126R possibly damaging Het
Slc35e1 A T 8: 72,483,852 Y382N probably damaging Het
Snrpn C T 7: 59,985,865 G129D probably damaging Het
Spag9 A T 11: 94,093,509 N386I possibly damaging Het
Ssna1 T C 2: 25,271,530 N102D possibly damaging Het
Tcrg-C2 T A 13: 19,305,176 T129S probably benign Het
Tex21 A T 12: 76,221,591 I139N probably benign Het
Trim21 T C 7: 102,563,277 T161A probably benign Het
Vmn2r82 T A 10: 79,377,869 H96Q probably benign Het
Other mutations in Mrm3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Mrm3 APN 11 76244493 missense probably damaging 1.00
IGL02712:Mrm3 APN 11 76243857 missense possibly damaging 0.87
P0026:Mrm3 UTSW 11 76247500 missense probably damaging 1.00
R0118:Mrm3 UTSW 11 76249955 missense possibly damaging 0.94
R1174:Mrm3 UTSW 11 76250024 missense probably damaging 1.00
R2066:Mrm3 UTSW 11 76250321 missense probably damaging 1.00
R2114:Mrm3 UTSW 11 76244521 missense possibly damaging 0.49
R3904:Mrm3 UTSW 11 76244286 missense probably benign 0.05
R5591:Mrm3 UTSW 11 76250081 missense probably benign
R7343:Mrm3 UTSW 11 76249900 missense probably damaging 1.00
R7346:Mrm3 UTSW 11 76250176 missense possibly damaging 0.51
R8010:Mrm3 UTSW 11 76250347 missense probably damaging 1.00
R8355:Mrm3 UTSW 11 76250338 missense possibly damaging 0.91
R8461:Mrm3 UTSW 11 76244332 missense probably damaging 1.00
Z1186:Mrm3 UTSW 11 76247395 missense probably benign 0.00
Z1187:Mrm3 UTSW 11 76244077 missense probably benign
Z1187:Mrm3 UTSW 11 76247395 missense probably benign 0.00
Z1188:Mrm3 UTSW 11 76244077 missense probably benign
Z1188:Mrm3 UTSW 11 76247395 missense probably benign 0.00
Z1189:Mrm3 UTSW 11 76244077 missense probably benign
Z1189:Mrm3 UTSW 11 76247395 missense probably benign 0.00
Z1190:Mrm3 UTSW 11 76244077 missense probably benign
Z1190:Mrm3 UTSW 11 76247395 missense probably benign 0.00
Z1192:Mrm3 UTSW 11 76244077 missense probably benign
Z1192:Mrm3 UTSW 11 76247395 missense probably benign 0.00
Posted On2016-08-02