MRM1

mitochondrial rRNA methyltransferase 1, the group of SPOUT methyltransferase domain containing

Basic information

Region (hg38): 17:36601583-36608964

Links

ENSG00000278619 ∙ NCBI:79922 ∙ OMIM:618099 ∙ HGNC:26202 ∙ Uniprot:Q6IN84 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MRM1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRM1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			21	1	2	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	2

Variants in MRM1

This is a list of pathogenic ClinVar variants found in the MRM1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-36601821-T-C		not specified	Uncertain significance (Nov 15, 2021)
17-36601827-C-T		not specified	Uncertain significance (Jul 06, 2021)
17-36601832-C-T		not specified	Uncertain significance (Dec 28, 2022)
17-36601875-A-T		not specified	Uncertain significance (Aug 09, 2021)
17-36602006-C-A		not specified	Uncertain significance (Jul 19, 2023)
17-36602037-C-G		not specified	Uncertain significance (Nov 09, 2021)
17-36602048-G-A		not specified	Uncertain significance (Jan 22, 2024)
17-36602049-G-A		not specified	Uncertain significance (Apr 20, 2023)
17-36602145-G-A		not specified	Uncertain significance (Dec 03, 2021)
17-36602169-G-C		not specified	Benign (May 04, 2022)
17-36602210-G-T		not specified	Uncertain significance (Dec 16, 2023)
17-36602245-G-C		not specified	Uncertain significance (May 02, 2024)
17-36602314-C-G		not specified	Benign (May 04, 2022)
17-36602324-G-C		not specified	Uncertain significance (Jan 23, 2023)
17-36602567-C-T		not specified	Uncertain significance (Nov 21, 2022)
17-36602635-G-A		not specified	Uncertain significance (Oct 26, 2022)
17-36607690-G-T		not specified	Uncertain significance (Mar 21, 2022)
17-36607700-G-A		not specified	Uncertain significance (May 22, 2023)
17-36607719-G-A		not specified	Uncertain significance (Mar 12, 2024)
17-36607742-G-A		not specified	Likely benign (Feb 28, 2023)
17-36608267-G-A		not specified	Uncertain significance (Sep 29, 2022)
17-36608282-T-C		not specified	Uncertain significance (Jan 29, 2024)
17-36608293-G-T		not specified	Uncertain significance (Nov 22, 2021)
17-36608300-G-A		not specified	Uncertain significance (Mar 31, 2024)
17-36608357-T-G		not specified	Uncertain significance (May 14, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O- methylguanosine at position 1145 (Gm1145) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification in the peptidyl transferase domain of the mtLSU rRNA. {ECO:0000269|PubMed:25074936}.
• Pathway: miR-targeted genes in lymphocytes - TarBase;rRNA processing;rRNA modification in the mitochondrion;Metabolism of RNA;rRNA processing in the mitochondrion (Consensus)

Recessive Scores

• pRec: 0.0997

Intolerance Scores

• loftool: 0.392
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.27

Haploinsufficiency Scores

• pHI: 0.0643
• hipred: N
• hipred_score: 0.204

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.950

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Mrm1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: rRNA 2'-O-methylation
• Cellular component: mitochondrion;mitochondrial matrix
• Molecular function: RNA binding;protein binding;rRNA (guanosine-2'-O-)-methyltransferase activity