MTG1

mitochondrial ribosome associated GTPase 1

Basic information

Region (hg38): 10:133394094-133422520

Previous symbols: [ "GTPBP7" ]

Links

ENSG00000148824 ∙ NCBI:92170 ∙ ∙ HGNC:32159 ∙ Uniprot:Q9BT17 ∙ 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 MTG1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTG1 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				1	1	2
missense			31	1		32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	2	1

Variants in MTG1

This is a list of pathogenic ClinVar variants found in the MTG1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-133394228-T-C		not specified	Uncertain significance (Dec 21, 2022)
10-133394228-T-G		not specified	Uncertain significance (Mar 21, 2023)
10-133394234-C-T		not specified	Uncertain significance (Feb 14, 2024)
10-133394236-C-T		not specified	Uncertain significance (Aug 12, 2021)
10-133394250-C-G			Likely benign (Mar 01, 2023)
10-133394259-G-C		not specified	Uncertain significance (Jun 24, 2022)
10-133394279-T-G		not specified	Uncertain significance (Dec 01, 2022)
10-133395725-T-C		not specified	Uncertain significance (Apr 26, 2023)
10-133395737-T-A		not specified	Uncertain significance (Oct 06, 2021)
10-133395745-G-C		not specified	Uncertain significance (Nov 09, 2021)
10-133396172-T-G		not specified	Uncertain significance (Jan 20, 2023)
10-133396176-G-C		not specified	Uncertain significance (Jan 31, 2023)
10-133396187-C-A		not specified	Uncertain significance (Apr 17, 2024)
10-133396194-A-G		not specified	Uncertain significance (Dec 07, 2023)
10-133399541-T-C		not specified	Uncertain significance (Dec 06, 2022)
10-133399568-G-A		not specified	Uncertain significance (Nov 21, 2023)
10-133399595-C-T		not specified	Uncertain significance (Apr 19, 2024)
10-133401571-C-A		not specified	Uncertain significance (Feb 22, 2023)
10-133402163-C-T			Benign (Mar 29, 2018)
10-133402164-C-A		not specified	Uncertain significance (Jan 19, 2024)
10-133402167-A-G		not specified	Uncertain significance (Apr 24, 2023)
10-133402225-G-A		not specified	Uncertain significance (Oct 26, 2022)
10-133402718-G-A		not specified	Uncertain significance (Apr 25, 2023)
10-133402727-A-G		not specified	Uncertain significance (Jan 02, 2024)
10-133402735-C-G		not specified	Uncertain significance (Feb 28, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTG1	protein_coding	protein_coding	ENST00000317502	11	27214

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0133	0.981	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.524	222	201	1.10	0.0000126	2145
Missense in Polyphen		66	67.814	0.97326		706
Synonymous	-0.608	89	82.0	1.09	0.00000524	669
Loss of Function	2.40	6	16.5	0.363	7.84e-7	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000639	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.000104	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the regulation of the mitochondrial ribosome assembly and of translational activity. Displays mitochondrial GTPase activity. {ECO:0000269|PubMed:23396448}.

Intolerance Scores

• loftool: 0.628
• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.72

Haploinsufficiency Scores

• pHI: 0.0741
• hipred: N
• hipred_score: 0.154
• ghis: 0.548

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.639

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtg1

Gene ontology

• Biological process: regulation of respiratory system process;regulation of mitochondrial translation
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial matrix;mitochondrial ribosome
• Molecular function: GTPase activity;GTP binding