MTFR1

mitochondrial fission regulator 1

Basic information

Region (hg38): 8:65644734-65771261

Links

ENSG00000066855 ∙ NCBI:9650 ∙ OMIM:619414 ∙ HGNC:29510 ∙ Uniprot:Q15390 ∙ 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 MTFR1 gene.

• not_specified (41 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTFR1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014637.4. 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				2		2
missense			32	4		36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	32	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTFR1	protein_coding	protein_coding	ENST00000262146	7	126528

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.45e-11	0.0548	125692	0	56	125748	0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.673	152	177	0.858	0.00000886	2152
Missense in Polyphen		39	50.779	0.76803		616
Synonymous	0.982	54	64.0	0.844	0.00000333	658
Loss of Function	0.120	17	17.5	0.969	9.76e-7	197

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000424	0.000413
Ashkenazi Jewish	0.00	0.00
East Asian	0.000173	0.000163
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.000173	0.000163
South Asian	0.000473	0.000457
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in mitochondrial aerobic respiration. May also regulate mitochondrial organization and fission (By similarity). {ECO:0000250}.

Recessive Scores

• pRec: 0.0765

Intolerance Scores

• loftool: 0.595
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.32

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.187
• ghis: 0.588

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0329

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtfr1
• Phenotype: cellular phenotype

Gene ontology

• Biological process: mitochondrial fission;mitochondrion organization;aerobic respiration
• Cellular component: mitochondrion;cytosol;plasma membrane