MON1B

MON1 homolog B, secretory trafficking associated

Basic information

Region (hg38): 16:77190835-77202398

Links

ENSG00000103111 ∙ NCBI:22879 ∙ OMIM:608954 ∙ HGNC:25020 ∙ Uniprot:Q7L1V2 ∙ 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 MON1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MON1B 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						0
missense			30			30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	1		3
Total	0	0	32	1	0

Variants in MON1B

This is a list of pathogenic ClinVar variants found in the MON1B region.

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

Position	Type	Phenotype	Significance	ClinVar
16-77191520-C-G		not specified	Uncertain significance (Mar 28, 2024)
16-77191537-T-A		not specified	Uncertain significance (Jul 14, 2023)
16-77191552-T-G		not specified	Uncertain significance (Aug 09, 2021)
16-77191601-C-G		not specified	Uncertain significance (May 04, 2023)
16-77191615-G-A		not specified	Uncertain significance (Apr 26, 2024)
16-77193480-C-G		not specified	Uncertain significance (Aug 09, 2021)
16-77193495-C-A		not specified	Uncertain significance (Jul 27, 2024)
16-77193544-C-T		not specified	Uncertain significance (Aug 04, 2023)
16-77193567-C-T		not specified	Uncertain significance (Dec 31, 2023)
16-77193577-G-C		not specified	Uncertain significance (Aug 17, 2021)
16-77193618-C-T		not specified	Uncertain significance (Dec 07, 2023)
16-77193628-G-A		not specified	Uncertain significance (Aug 22, 2023)
16-77193699-T-A		not specified	Uncertain significance (Feb 21, 2024)
16-77193774-G-A		not specified	Uncertain significance (May 25, 2022)
16-77194392-G-A		not specified	Uncertain significance (Mar 07, 2023)
16-77194394-A-G		not specified	Uncertain significance (Oct 27, 2023)
16-77194451-G-T		not specified	Uncertain significance (Dec 21, 2022)
16-77194478-G-A		not specified	Uncertain significance (Nov 09, 2024)
16-77194479-C-T		not specified	Uncertain significance (Sep 09, 2021)
16-77194614-C-G		not specified	Uncertain significance (May 10, 2022)
16-77194622-C-T		not specified	Uncertain significance (Oct 01, 2024)
16-77194623-G-A		not specified	Uncertain significance (Sep 03, 2024)
16-77194632-G-A		not specified	Uncertain significance (Jun 07, 2024)
16-77194871-G-A		not specified	Uncertain significance (Feb 06, 2023)
16-77194890-A-G		not specified	Uncertain significance (Jan 12, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MON1B	protein_coding	protein_coding	ENST00000248248	5	11571

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0187	0.981	125735	0	13	125748	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.855	313	359	0.873	0.0000242	3441
Missense in Polyphen		83	121.5	0.68312		1179
Synonymous	-2.16	186	152	1.22	0.00000976	1238
Loss of Function	2.94	7	21.8	0.321	0.00000143	203

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000869	0.0000869
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000624	0.0000615
Middle Eastern	0.000109	0.000109
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Vesicle-mediated transport;Membrane Trafficking;Rab regulation of trafficking;RAB GEFs exchange GTP for GDP on RABs (Consensus)

Recessive Scores

• pRec: 0.103

Intolerance Scores

• loftool: 0.0535
• rvis_EVS: -0.91
• rvis_percentile_EVS: 10.07

Haploinsufficiency Scores

• pHI: 0.0675
• hipred: Y
• hipred_score: 0.613
• ghis: 0.577

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.938

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mon1b

Gene ontology

• Biological process: early viral transcription;late viral transcription
• Cellular component: cytoplasm;Mon1-Ccz1 complex
• Molecular function: protein binding