MRPL10

mitochondrial ribosomal protein L10, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 17:47823272-47831541

Links

ENSG00000159111 ∙ NCBI:124995 ∙ OMIM:611825 ∙ HGNC:14055 ∙ Uniprot:Q7Z7H8 ∙ 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 MRPL10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL10 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				2		2
missense			15		1	16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	1

Variants in MRPL10

This is a list of pathogenic ClinVar variants found in the MRPL10 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-47824235-C-A		not specified	Uncertain significance (Mar 07, 2024)
17-47824260-T-A		not specified	Uncertain significance (Oct 13, 2023)
17-47824270-G-A		not specified	Uncertain significance (Mar 23, 2023)
17-47824323-T-C		not specified	Uncertain significance (Feb 28, 2023)
17-47824336-G-A		not specified	Uncertain significance (Aug 19, 2023)
17-47827054-C-T		MRPL10-related disorder	Benign (Oct 17, 2019)
17-47827078-G-A		not specified	Uncertain significance (Feb 21, 2024)
17-47827092-A-G		not specified	Uncertain significance (Mar 16, 2022)
17-47827135-C-T		not specified	Uncertain significance (Jun 06, 2023)
17-47827177-G-A		not specified	Uncertain significance (Dec 01, 2022)
17-47827187-C-G		not specified	Uncertain significance (Jun 06, 2023)
17-47828508-G-C		not specified	Uncertain significance (Apr 28, 2023)
17-47828518-G-A		not specified	Uncertain significance (Jul 26, 2021)
17-47828531-G-A		MRPL10-related disorder	Likely benign (Oct 28, 2019)
17-47828551-G-A		not specified	Uncertain significance (Feb 09, 2023)
17-47828613-C-T		not specified	Uncertain significance (Sep 14, 2022)
17-47828622-G-C		not specified	Uncertain significance (Dec 16, 2023)
17-47828636-G-A		MRPL10-related disorder	Likely benign (Mar 21, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL10	protein_coding	protein_coding	ENST00000290208	5	8263

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.101	0.869	125638	0	14	125652	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0833	140	143	0.980	0.00000855	1734
Missense in Polyphen		26	34.685	0.7496		429
Synonymous	0.457	54	58.4	0.924	0.00000313	581
Loss of Function	1.86	3	9.02	0.333	5.52e-7	108

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000591	0.0000591
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000732	0.0000704
Middle Eastern	0.00	0.00
South Asian	0.0000661	0.0000653
Other	0.000344	0.000326

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: 0.0833

Intolerance Scores

• loftool: 0.392
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.0952
• hipred: N
• hipred_score: 0.200
• ghis: 0.556

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.987

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl10

Gene ontology

• Biological process: translation;ribosome biogenesis;mitochondrial translational elongation;mitochondrial translational termination
• Cellular component: nucleoplasm;mitochondrion;mitochondrial inner membrane;mitochondrial large ribosomal subunit;large ribosomal subunit;ribonucleoprotein complex
• Molecular function: RNA binding;structural constituent of ribosome;protein binding