MON1B

protein-coding

MON1 homolog B, secretory trafficking associated

Gene summary

Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in early viral transcription and late viral transcription. Located in late endosome. Part of Mon1-Ccz1 complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_014940.4

Inheritance

—

ClinVar variants

U:89B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.32

Max pathogenic AF

—

Genomic locus

chr16:77,190,835-77,202,398

External References & Databases

Ensembl (ENSG00000103111)

Transcript & Mutation Effects

hg38 • Region Span ~11.6 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 MON1B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 83

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014940.4. 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			3 clinvar	1 clinvar		4
missense			83 clinvar	1 clinvar		84
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	89	2	0	91

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 25 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014940.4	RefSeq	NP_055755.1	5	MANE Select
ENST00000248248.8	Ensembl	ENSP00000248248.3	5	MANE Select
NM_001286639.2	RefSeq	NP_001273568.1	4	Standard
NM_001286640.2	RefSeq	NP_001273569.1	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Vesicle-mediated transport
Membrane Trafficking
Rab regulation of trafficking
RAB GEFs exchange GTP for GDP on RABs

Biological Process

early viral transcription
late viral transcription

Molecular Function

protein binding

Cellular Component

cytoplasm
Mon1-Ccz1 complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000248248
Coding exons: 5
Length: 11571
Individuals with no LoFs: 125735
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125748
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.855	313	359	0.873	0.0000242	3441
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.0535
RVIS EVS: -0.91
RVIS percentile EVS: 10.07

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.938

Gene Damage Prediction

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