MNT

MAX network transcriptional repressor, the group of MAX dimerization proteins|Basic helix-loop-helix proteins

Basic information

Region (hg38): 17:2384073-2401104

Links

ENSG00000070444

∙ NCBI:4335 ∙ OMIM:603039 ∙ HGNC:7188 ∙ Uniprot:Q99583 ∙ 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 MNT gene.

not_specified (73 variants)
not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MNT gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020310.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar	2 clinvar	4
missense			72 clinvar	1 clinvar		73
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	72	3	2

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MNT	protein_coding	protein_coding	ENST00000174618	6	17059

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.997	0.00261	125079	0	195	125274	0.000779

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.981	283	333	0.849	0.0000198	3615
Missense in Polyphen		50	75.181	0.66507		836
Synonymous	-1.89	182	152	1.19	0.0000102	1295
Loss of Function	3.87	0	17.4	0.00	8.33e-7	194

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00325	0.00313
Ashkenazi Jewish	0.000504	0.000498
East Asian	0.000790	0.000762
Finnish	0.00124	0.00120
European (Non-Finnish)	0.000504	0.000496
Middle Eastern	0.000790	0.000762
South Asian	0.00101	0.000981
Other	0.000333	0.000327

dbNSFP

Source: dbNSFP

Function: FUNCTION: Binds DNA as a heterodimer with MAX and represses transcription. Binds to the canonical E box sequence 5'-CACGTG-3' and, with higher affinity, to 5'-CACGCG-3'.;

Recessive Scores

pRec: 0.102

Intolerance Scores

loftool: 0.0396
rvis_EVS: -0.76
rvis_percentile_EVS: 13.45

Haploinsufficiency Scores

pHI: 0.393
hipred: Y
hipred_score: 0.748
ghis: 0.605

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: K
gene_indispensability_pred: E
gene_indispensability_score: 0.891

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Mnt
Phenotype: skeleton phenotype; digestive/alimentary phenotype; neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; cellular phenotype; craniofacial phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype;

Gene ontology

Biological process: negative regulation of transcription by RNA polymerase II;transcription by RNA polymerase II;multicellular organism development;cell aging;negative regulation of cell population proliferation;regulation of cell cycle;positive regulation of nucleic acid-templated transcription;negative regulation of apoptotic signaling pathway
Cellular component: nucleus;nucleoplasm
Molecular function: RNA polymerase II regulatory region sequence-specific DNA binding;DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription repressor activity, RNA polymerase II-specific;chromatin binding;DNA-binding transcription factor activity;transcription coactivator activity;transcription corepressor activity;protein dimerization activity