MX1

MX dynamin like GTPase 1

Basic information

Region (hg38): 21:41420020-41470071

Links

ENSG00000157601 ∙ NCBI:4599 ∙ OMIM:147150 ∙ HGNC:7532 ∙ Uniprot:P20591 ∙ 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 MX1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MX1 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				2	2	4
missense			36		2	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2		2	4
Total	0	0	38	2	6

Variants in MX1

This is a list of pathogenic ClinVar variants found in the MX1 region.

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

Position	Type	Phenotype	Significance	ClinVar
21-41432092-A-G		not specified	Uncertain significance (Jun 02, 2023)
21-41432147-C-A		not specified	Uncertain significance (Aug 16, 2021)
21-41432161-A-G		not specified	Uncertain significance (Dec 03, 2021)
21-41432184-C-G			Benign (May 24, 2018)
21-41435862-A-G		not specified	Uncertain significance (Apr 12, 2022)
21-41435880-G-A		not specified	Uncertain significance (Jun 11, 2021)
21-41435950-C-G		not specified	Uncertain significance (Sep 23, 2023)
21-41435951-G-A		not specified	Uncertain significance (Aug 03, 2021)
21-41436028-C-A		not specified	Uncertain significance (Dec 22, 2023)
21-41437118-G-A			Benign (Jul 31, 2018)
21-41439705-A-G		not specified	Uncertain significance (May 18, 2023)
21-41439711-G-A		not specified	Uncertain significance (Jan 20, 2023)
21-41439805-C-T		not specified	Uncertain significance (Jul 14, 2021)
21-41441771-C-G		not specified	Uncertain significance (Sep 22, 2022)
21-41441779-G-A		not specified	Uncertain significance (Oct 26, 2021)
21-41441800-A-G		not specified	Uncertain significance (Apr 22, 2024)
21-41441836-A-G		not specified	Uncertain significance (Feb 06, 2024)
21-41441860-T-G		not specified	Uncertain significance (Jun 06, 2023)
21-41441890-T-C		not specified	Uncertain significance (Jun 17, 2024)
21-41441893-T-C		not specified	Uncertain significance (Jan 18, 2022)
21-41443796-T-C		not specified	Uncertain significance (Jan 10, 2023)
21-41443800-G-A			Likely benign (Mar 29, 2018)
21-41443804-G-A			Benign (May 24, 2018)
21-41443814-C-T		not specified	Uncertain significance (Aug 30, 2021)
21-41443823-G-A		not specified	Uncertain significance (Sep 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MX1	protein_coding	protein_coding	ENST00000398600	13	38911

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.42e-18	0.0181	125576	2	170	125748	0.000684

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.319	375	393	0.955	0.0000232	4379
Missense in Polyphen		109	136.21	0.80024		1400
Synonymous	0.297	152	157	0.970	0.0000100	1257
Loss of Function	0.587	29	32.6	0.889	0.00000156	385

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00400	0.00393
Ashkenazi Jewish	0.00109	0.00109
East Asian	0.000326	0.000326
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000564	0.000563
Middle Eastern	0.000326	0.000326
South Asian	0.000261	0.000229
Other	0.000652	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Interferon-induced dynamin-like GTPase with antiviral activity against a wide range of RNA viruses and some DNA viruses. Its target viruses include negative-stranded RNA viruses and HBV through binding and inactivation of their ribonucleocapsid. May also antagonize reoviridae and asfarviridae replication. Inhibits thogoto virus (THOV) replication by preventing the nuclear import of viral nucleocapsids. Inhibits La Crosse virus (LACV) replication by sequestering viral nucleoprotein in perinuclear complexes, preventing genome amplification, budding, and egress. Inhibits influenza A virus (IAV) replication by decreasing or delaying NP synthesis and by blocking endocytic traffic of incoming virus particles. Enhances ER stress-mediated cell death after influenza virus infection. May regulate the calcium channel activity of TRPCs. {ECO:0000269|PubMed:11880649, ECO:0000269|PubMed:14687945, ECO:0000269|PubMed:14752052, ECO:0000269|PubMed:15047845, ECO:0000269|PubMed:15355513, ECO:0000269|PubMed:15757897, ECO:0000269|PubMed:16202617, ECO:0000269|PubMed:16413306, ECO:0000269|PubMed:17374778, ECO:0000269|PubMed:18668195, ECO:0000269|PubMed:19109387, ECO:0000269|PubMed:21900240, ECO:0000269|PubMed:21992152}.
• Pathway: Influenza A - Homo sapiens (human);Measles - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);The human immune response to tuberculosis;Cytokine Signaling in Immune system;Immune System;Interferon alpha/beta signaling;ISG15 antiviral mechanism;Antiviral mechanism by IFN-stimulated genes;Interferon Signaling (Consensus)

Recessive Scores

• pRec: 0.498

Intolerance Scores

• loftool: 0.224
• rvis_EVS: -0.39
• rvis_percentile_EVS: 27.05

Haploinsufficiency Scores

• pHI: 0.170
• hipred: N
• hipred_score: 0.298
• ghis: 0.555

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.875

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mx2

Gene ontology

• Biological process: mitochondrial fission;dynamin family protein polymerization involved in mitochondrial fission;apoptotic process;defense response;signal transduction;response to virus;response to type I interferon;negative regulation of viral genome replication;innate immune response;defense response to virus;type I interferon signaling pathway;membrane fusion
• Cellular component: nucleus;cytoplasm;endoplasmic reticulum membrane;cytosol;membrane;nuclear membrane;mitochondrial membrane;perinuclear region of cytoplasm
• Molecular function: GTPase activity;protein binding;GTP binding;microtubule binding;identical protein binding