METTL8

methyltransferase 8, methylcytidine, the group of 7BS DNA/RNA methyltransferases

Basic information

Region (hg38): 2:171315746-171434802

Links

ENSG00000123600 ∙ NCBI:79828 ∙ OMIM:609525 ∙ HGNC:25856 ∙ Uniprot:Q9H825 ∙ 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 METTL8 gene.

• not_specified (49 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the METTL8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001321154.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			46	3		49
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	46	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
METTL8	protein_coding	protein_coding	ENST00000375258	9	117394

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.55e-11	0.118	125533	0	210	125743	0.000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.455	170	188	0.906	0.00000933	2484
Missense in Polyphen		62	72.837	0.85122		990
Synonymous	0.514	57	62.1	0.917	0.00000284	678
Loss of Function	0.443	17	19.1	0.890	9.94e-7	258

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000808	0.000784
Ashkenazi Jewish	0.00	0.00
East Asian	0.000401	0.000381
Finnish	0.00461	0.00458
European (Non-Finnish)	0.000498	0.000466
Middle Eastern	0.000401	0.000381
South Asian	0.000679	0.000621
Other	0.00171	0.00163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable methyltransferase. {ECO:0000250}.

Recessive Scores

• pRec: 0.0767

Haploinsufficiency Scores

• pHI: 0.204
• hipred: N
• hipred_score: 0.187
• ghis: 0.478

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0136

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mettl8
• Phenotype: cellular phenotype

Gene ontology

• Biological process: tRNA methylation
• Cellular component: nucleus;cytoplasm
• Molecular function: tRNA (cytosine-3-)-methyltransferase activity