MTFR1L

mitochondrial fission regulator 1 like

Basic information

Region (hg38): 1:25818640-25832942

Previous symbols: [ "FAM54B" ]

Links

ENSG00000117640 ∙ NCBI:56181 ∙ ∙ HGNC:28836 ∙ Uniprot:Q9H019 ∙ 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 MTFR1L gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTFR1L 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				1		1
missense			19	3		22
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	5	0

Variants in MTFR1L

This is a list of pathogenic ClinVar variants found in the MTFR1L region.

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

Position	Type	Phenotype	Significance	ClinVar
1-25823660-A-C		not specified	Uncertain significance (Feb 27, 2025)
1-25823669-C-T		not specified	Uncertain significance (Oct 26, 2022)
1-25823671-C-T		not specified	Uncertain significance (Apr 24, 2024)
1-25826354-C-A		not specified	Uncertain significance (Dec 18, 2024)
1-25826381-C-A		not specified	Uncertain significance (Feb 16, 2023)
1-25826623-C-T		not specified	Uncertain significance (Dec 22, 2023)
1-25826626-G-A		not specified	Uncertain significance (Feb 22, 2025)
1-25826698-G-A		not specified	Uncertain significance (Mar 27, 2023)
1-25826713-G-A		not specified	Uncertain significance (Nov 07, 2023)
1-25826721-G-A		not specified	Uncertain significance (Feb 12, 2025)
1-25826754-C-T		not specified	Uncertain significance (Mar 21, 2023)
1-25829525-G-A		not specified	Likely benign (Nov 20, 2024)
1-25829538-T-C		not specified	Uncertain significance (Jan 03, 2024)
1-25829556-G-A		not specified	Uncertain significance (Mar 01, 2024)
1-25829592-C-T		not specified	Uncertain significance (Jul 23, 2024)
1-25829595-T-C		not specified	Uncertain significance (Apr 06, 2022)
1-25829627-C-T		not specified	Likely benign (May 26, 2023)
1-25829628-G-A		not specified	Uncertain significance (May 23, 2023)
1-25829642-G-A		not specified	Likely benign (Oct 03, 2023)
1-25829680-C-T		not specified	Uncertain significance (Dec 03, 2024)
1-25829689-C-T		not specified	Uncertain significance (Sep 14, 2021)
1-25829715-G-A		not specified	Uncertain significance (May 26, 2024)
1-25829728-C-G		not specified	Uncertain significance (Feb 23, 2023)
1-25829728-C-T		not specified	Uncertain significance (Sep 30, 2024)
1-25829729-G-A		not specified	Likely benign (Jan 09, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTFR1L	protein_coding	protein_coding	ENST00000374301	6	14302

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.313	0.684	124780	0	14	124794	0.0000561

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.05	128	166	0.771	0.00000958	1889
Missense in Polyphen		39	60.219	0.64764		724
Synonymous	-0.997	76	65.7	1.16	0.00000377	598
Loss of Function	2.52	3	12.7	0.236	6.90e-7	149

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000116	0.000116
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000618	0.0000618
Middle Eastern	0.0000556	0.0000556
South Asian	0.0000328	0.0000327
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.16

Haploinsufficiency Scores

• pHI: 0.103
• hipred: Y
• hipred_score: 0.609
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtfr1l

Gene ontology

• Biological process: mitochondrial fission;aerobic respiration
• Cellular component: mitochondrion
• Molecular function: protein binding