METTL8

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

Basic information

Region (hg38): 2:171315746-171434802

Links

ENSG00000123600NCBI:79828OMIM:609525HGNC:25856Uniprot:Q9H825AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the METTL8 gene.

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.

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
clinvar
1
missense
18
clinvar
2
clinvar
20
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
2
clinvar
2
Total 0 0 18 2 3

Variants in METTL8

This is a list of pathogenic ClinVar variants found in the METTL8 region.

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

Position Type Phenotype Significance ClinVar
2-171324191-G-A not specified Uncertain significance (Dec 13, 2022)2334138
2-171324198-C-T not specified Uncertain significance (Jul 19, 2022)2385211
2-171324260-C-T not specified Uncertain significance (Dec 16, 2023)3125609
2-171325876-C-G not specified Uncertain significance (Apr 24, 2023)2514146
2-171325876-C-T not specified Uncertain significance (Feb 16, 2023)2469295
2-171326053-C-T not specified Uncertain significance (Aug 26, 2022)2344650
2-171326081-A-G not specified Uncertain significance (Jun 10, 2024)3294474
2-171326099-T-A not specified Uncertain significance (Jun 13, 2023)2509552
2-171330586-A-C not specified Uncertain significance (Dec 28, 2022)2230996
2-171330607-A-C not specified Uncertain significance (Oct 26, 2021)2285229
2-171330650-C-T not specified Uncertain significance (Feb 07, 2023)2482007
2-171330655-T-C not specified Uncertain significance (Jan 29, 2024)3125614
2-171330676-G-A not specified Uncertain significance (Jun 30, 2022)2364759
2-171330680-C-T not specified Uncertain significance (Mar 28, 2024)3294473
2-171331809-C-T not specified Likely benign (Apr 13, 2022)2225166
2-171331828-A-C Benign (Oct 09, 2018)767830
2-171331859-G-A not specified Uncertain significance (Jan 23, 2023)2459281
2-171339372-G-C not specified Uncertain significance (Dec 07, 2021)2352213
2-171339386-G-A not specified Uncertain significance (Oct 10, 2023)3125611
2-171360484-T-G not specified Uncertain significance (Apr 13, 2022)3125610
2-171360492-C-G not specified Uncertain significance (May 09, 2022)2398951
2-171360502-T-C not specified Uncertain significance (May 16, 2024)3294475
2-171392068-C-G not specified Uncertain significance (Mar 06, 2023)2459396
2-171392124-T-C not specified Likely benign (Oct 10, 2023)3125613
2-171433946-C-G Benign (Feb 28, 2019)1178187

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
METTL8protein_codingprotein_codingENST00000375258 9117394
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.55e-110.11812553302101257430.000835
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4551701880.9060.000009332484
Missense in Polyphen6272.8370.85122990
Synonymous0.5145762.10.9170.00000284678
Loss of Function0.4431719.10.8909.94e-7258

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0008080.000784
Ashkenazi Jewish0.000.00
East Asian0.0004010.000381
Finnish0.004610.00458
European (Non-Finnish)0.0004980.000466
Middle Eastern0.0004010.000381
South Asian0.0006790.000621
Other0.001710.00163

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_CRISPR
essential_gene_CRISPR2
S
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.0136

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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