MTFR1

protein-coding

mitochondrial fission regulator 1

Gene summary

This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]

MANE transcript

NM_014637.4

Inheritance

—

ClinVar variants

U:38B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.97

Max pathogenic AF

—

Genomic locus

chr8:65,644,734-65,771,261

External References & Databases

Ensembl (ENSG00000066855)

Transcript & Mutation Effects

hg38 • Region Span ~126.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MTFR1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 43

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014637.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			35 clinvar	4 clinvar		39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	38	6	0	44

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 78 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014637.4	RefSeq	NP_055452.3	7	MANE Select
ENST00000262146.9	Ensembl	ENSP00000262146.4	7	MANE Select
NM_001145838.2	RefSeq	NP_001139310.1	6	Standard
NM_001145839.2	RefSeq	NP_001139311.1	6	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

mitochondrial fission
mitochondrion organization
aerobic respiration

Cellular Component

mitochondrion
cytosol
plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000262146
Coding exons: 7
Length: 126528
Individuals with no LoFs: 125692
Homozygous LoFs: 0
Heterozygous LoFs: 56
Defined: 125748
p: 0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.673	152	177	0.858	0.00000886	2152
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00012	rare
Latino/Admixed American	0.00029	0.00026	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00016	rare
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.00021	0.00021	rare
South Asian	0.00047	0.00046	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0329

Gene Damage Prediction

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