MPV17L

MPV17 mitochondrial inner membrane protein like

Basic information

Region (hg38): 16:15395754-15413271

Links

ENSG00000156968 ∙ NCBI:255027 ∙ OMIM:618100 ∙ HGNC:26827 ∙ Uniprot:Q2QL34 ∙ 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 MPV17L gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MPV17L gene is commonly pathogenic or not. These statistics are base on transcript: NM_001128423.2. 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				1		1
missense			39	4		43
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	39	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MPV17L	protein_coding	protein_coding	ENST00000396385	4	17515

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.39e-7	0.163	125730	0	15	125745	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.446	84	96.3	0.872	0.00000452	1223
Missense in Polyphen		26	26.914	0.96604		416
Synonymous	0.356	40	43.0	0.931	0.00000219	396
Loss of Function	-0.215	9	8.33	1.08	3.64e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000309	0.000308
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000619	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000666	0.0000653
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1 participates in reactive oxygen species metablism by up- or down-regulation of the genes of antioxidant enzymes. {ECO:0000269|PubMed:16631601}.
• Pathway: Peroxisome - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139
• ghis: 0.530

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0575

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Mpv17l

Gene ontology

• Biological process: negative regulation of hydrogen peroxide biosynthetic process;negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway
• Cellular component: cytoplasm;mitochondrion;peroxisomal membrane;integral component of membrane;intracellular membrane-bounded organelle
• Molecular function: molecular_function;signaling receptor binding