MRPL41

mitochondrial ribosomal protein L41, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 9:137551879-137552555

Links

ENSG00000182154 ∙ NCBI:64975 ∙ OMIM:611846 ∙ HGNC:14492 ∙ Uniprot:Q8IXM3 ∙ 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 MRPL41 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL41 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						0
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in MRPL41

This is a list of pathogenic ClinVar variants found in the MRPL41 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-137552106-C-T		not specified	Uncertain significance (Nov 17, 2022)
9-137552107-G-A		not specified	Uncertain significance (Dec 08, 2023)
9-137552191-G-A		not specified	Uncertain significance (Oct 04, 2022)
9-137552250-G-A		not specified	Uncertain significance (May 23, 2023)
9-137552326-A-G		not specified	Uncertain significance (Apr 25, 2023)
9-137552346-G-A		not specified	Uncertain significance (Nov 17, 2022)
9-137552439-G-C		not specified	Uncertain significance (Mar 01, 2023)
9-137552443-C-T		not specified	Uncertain significance (Dec 20, 2021)
9-137552445-A-G		not specified	Uncertain significance (Sep 07, 2022)
9-137552457-A-C		not specified	Uncertain significance (Jan 06, 2023)
9-137552460-C-G		not specified	Uncertain significance (Dec 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL41	protein_coding	protein_coding	ENST00000371443	1	1357

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.555	0.398	124440	0	2	124442	0.00000804

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.419	60	69.8	0.859	0.00000322	875
Missense in Polyphen		26	29.842	0.87126		378
Synonymous	-0.643	35	30.5	1.15	0.00000146	280
Loss of Function	1.45	0	2.44	0.00	1.07e-7	30

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000299	0.0000299
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000552	0.0000550
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.0000552	0.0000550
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the mitochondrial ribosome large subunit (PubMed:28892042, PubMed:25838379, PubMed:25278503). Also involved in apoptosis and cell cycle (PubMed:16024796, PubMed:16256947). Enhances p53/TP53 stability, thereby contributing to p53/TP53- induced apoptosis in response to growth-inhibitory condition. Enhances p53/TP53 translocation to the mitochondria. Has the ability to arrest the cell cycle at the G1 phase, possibly by stabilizing the CDKN1A and CDKN1B (p27Kip1) proteins (PubMed:16024796). {ECO:0000269|PubMed:16024796, ECO:0000269|PubMed:16256947, ECO:0000269|PubMed:25278503, ECO:0000269|PubMed:25838379, ECO:0000269|PubMed:28892042}.
• Pathway: Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.253
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.64

Haploinsufficiency Scores

• pHI: 0.0884
• hipred: Y
• hipred_score: 0.600
• ghis: 0.522

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.786

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl41
• Phenotype: embryo phenotype

Gene ontology

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