MRPL14

mitochondrial ribosomal protein L14, the group of Large subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 6:44113450-44127452

Links

ENSG00000180992 ∙ NCBI:64928 ∙ OMIM:611827 ∙ HGNC:14279 ∙ Uniprot:Q6P1L8 ∙ 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 MRPL14 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPL14 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in MRPL14

This is a list of pathogenic ClinVar variants found in the MRPL14 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-44113855-C-G		not specified	Uncertain significance (Dec 06, 2021)
6-44113859-G-A		not specified	Uncertain significance (Sep 30, 2021)
6-44113863-T-C		not specified	Uncertain significance (Aug 17, 2021)
6-44113884-C-T		not specified	Uncertain significance (Aug 13, 2021)
6-44113892-C-T		not specified	Uncertain significance (Sep 16, 2021)
6-44113895-T-A		not specified	Uncertain significance (Jun 11, 2021)
6-44113898-C-T		not specified	Uncertain significance (Dec 20, 2023)
6-44113922-T-C		not specified	Uncertain significance (Nov 09, 2022)
6-44113958-A-G		not specified	Uncertain significance (Jul 27, 2022)
6-44114073-C-T		not specified	Uncertain significance (Jan 09, 2024)
6-44114172-G-A		not specified	Uncertain significance (Mar 02, 2023)
6-44114201-C-T		not specified	Uncertain significance (Jan 23, 2023)
6-44126005-C-T			Benign (Jan 17, 2024)
6-44126071-T-G			Benign (Jan 02, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MRPL14	protein_coding	protein_coding	ENST00000372014	2	14001

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000924	0.354	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.273	87	94.5	0.921	0.00000568	947
Missense in Polyphen		39	46.412	0.8403		405
Synonymous	0.862	30	36.6	0.819	0.00000218	306
Loss of Function	-0.0199	6	5.95	1.01	5.36e-7	44

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000175	0.000175
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Forms part of 2 intersubunit bridges in the assembled ribosome. Upon binding to MALSU1 intersubunit bridge formation is blocked, preventing ribosome formation and repressing translation (Probable). {ECO:0000305|PubMed:22829778}.
• Pathway: Ribosome - Homo sapiens (human);Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

• pRec: 0.0919

Intolerance Scores

• loftool: 0.415
• rvis_EVS: -0.14
• rvis_percentile_EVS: 42.88

Haploinsufficiency Scores

• pHI: 0.0808
• hipred: N
• hipred_score: 0.400
• ghis: 0.623

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.629

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mrpl14

Gene ontology

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