MRPS10

mitochondrial ribosomal protein S10, the group of Small subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 6:42206694-42217861

Links

ENSG00000048544 ∙ NCBI:55173 ∙ OMIM:611976 ∙ HGNC:14502 ∙ Uniprot:P82664 ∙ 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 MRPS10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS10 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
missense			14	1		15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	2	0

Variants in MRPS10

This is a list of pathogenic ClinVar variants found in the MRPS10 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-42208302-T-G		not specified	Uncertain significance (Jun 17, 2022)
6-42208336-G-A		not specified	Uncertain significance (Feb 27, 2025)
6-42208878-C-T		not specified	Uncertain significance (May 15, 2024)
6-42208895-C-T		not specified	Uncertain significance (Jan 29, 2025)
6-42208906-T-A		not specified	Uncertain significance (Oct 03, 2023)
6-42210593-A-T		not specified	Uncertain significance (Aug 28, 2024)
6-42211788-T-C		not specified	Uncertain significance (Sep 15, 2021)
6-42211848-C-T		not specified	Uncertain significance (Sep 29, 2023)
6-42211874-G-A		not specified	Uncertain significance (Dec 08, 2023)
6-42211880-C-T		not specified	Uncertain significance (Jul 27, 2024)
6-42214151-A-T		not specified	Uncertain significance (Jul 31, 2024)
6-42214161-T-C		not specified	Uncertain significance (Dec 02, 2024)
6-42214285-C-G		not specified	Likely benign (Oct 25, 2022)
6-42217809-A-G		not specified	Uncertain significance (Apr 16, 2024)
6-42217827-C-G		not specified	Uncertain significance (Jan 31, 2022)
6-42217835-T-C			Likely benign (Sep 01, 2022)
6-42217845-G-A		not specified	Uncertain significance (May 25, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPS10	protein_coding	protein_coding	ENST00000053468	7	11065

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.01e-9	0.0488	125728	0	17	125745	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.362	113	103	1.10	0.00000491	1290
Missense in Polyphen		39	37.921	1.0285		510
Synonymous	-0.820	44	37.6	1.17	0.00000192	364
Loss of Function	-0.388	13	11.6	1.12	6.36e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000148	0.000148
Ashkenazi Jewish	0.00	0.00
East Asian	0.000166	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000710	0.0000703
Middle Eastern	0.000166	0.000163
South Asian	0.0000328	0.0000327
Other	0.00	0.00

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: 0.102

Intolerance Scores

• loftool: 0.403
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.66

Haploinsufficiency Scores

• pHI: 0.197
• hipred: N
• hipred_score: 0.376
• ghis: 0.589

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.986

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrps10

Gene ontology

• Biological process: biological_process;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: mitochondrial inner membrane;mitochondrial small ribosomal subunit
• Molecular function: molecular_function