MRPS6

mitochondrial ribosomal protein S6, the group of Mitochondrial ribosomal proteins

Basic information

Region (hg38): 21:34073224-34362252

Previous symbols: [ "C21orf101" ]

Links

ENSG00000243927 ∙ NCBI:64968 ∙ OMIM:611973 ∙ HGNC:14051 ∙ Uniprot:P82932 ∙ 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 MRPS6 gene.

• not_specified (55 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032476.4. 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						0
missense			16	1		17
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	16	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPS6	protein_coding	protein_coding	ENST00000399312	3	69811

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000661	0.519	125731	0	13	125744	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.262	76	69.8	1.09	0.00000372	799
Missense in Polyphen		25	21.24	1.1771		253
Synonymous	0.393	23	25.5	0.901	0.00000139	243
Loss of Function	0.300	5	5.78	0.865	4.09e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000111	0.000109
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.0000540	0.0000527
Middle Eastern	0.000111	0.000109
South Asian	0.0000329	0.0000327
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Ribosome - Homo sapiens (human);Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.0447

Intolerance Scores

• loftool: 0.360
• rvis_EVS: 0.06
• rvis_percentile_EVS: 58.26

Haploinsufficiency Scores

• pHI: 0.102
• hipred: N
• hipred_score: 0.253
• ghis: 0.526

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.947

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrps6

Zebrafish Information Network

• Gene name: mrps6
• Affected structure: blood cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: translation;mitochondrial translation;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: mitochondrial inner membrane;mitochondrial small ribosomal subunit;small ribosomal subunit
• Molecular function: structural constituent of ribosome;protein binding;small ribosomal subunit rRNA binding