MAST4

microtubule associated serine/threonine kinase family member 4, the group of PDZ domain containing|AGC family kinases

Basic information

Region (hg38): 5:66596379-67169593

Links

ENSG00000069020 ∙ NCBI:375449 ∙ OMIM:618002 ∙ HGNC:19037 ∙ Uniprot:O15021 ∙ 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 MAST4 gene.

• Inborn genetic diseases (90 variants)
• not provided (19 variants)
• MAST-associated epilepsy syndrome (1 variants)
• MAST4-associated generalized epilepsy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAST4 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				8	4	12
missense			85	7	3	95
nonsense						0
start loss						0
frameshift			1			1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1			1
non coding			1	1		2
Total	0	0	87	16	7

Variants in MAST4

This is a list of pathogenic ClinVar variants found in the MAST4 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-66596695-C-T		not specified	Uncertain significance (Jul 14, 2021)
5-66596756-C-T		not specified	Uncertain significance (Jul 14, 2021)
5-66596991-C-T			Likely benign (Apr 01, 2023)
5-66759735-C-T			Benign (Mar 29, 2018)
5-66759745-C-T			Uncertain significance (-)
5-66759828-G-A			Benign (Mar 02, 2018)
5-66828869-G-A		not specified	Uncertain significance (Dec 05, 2022)
5-66844252-C-T		MAST-associated epilepsy syndrome	Uncertain significance (Sep 17, 2021)
5-67054409-G-A		not specified	Uncertain significance (Nov 17, 2022)
5-67054421-G-A		not specified	Uncertain significance (Sep 01, 2021)
5-67054424-A-G		not specified	Uncertain significance (Dec 21, 2022)
5-67095671-T-G		not specified	Uncertain significance (Oct 06, 2021)
5-67100500-C-G		not specified	Uncertain significance (Feb 16, 2023)
5-67100510-A-G		not specified	Uncertain significance (Feb 21, 2024)
5-67100540-A-G		not specified	Uncertain significance (Feb 17, 2023)
5-67102544-G-A		not specified	Uncertain significance (Nov 23, 2022)
5-67102565-A-G		not specified	Uncertain significance (Aug 02, 2021)
5-67104417-C-A		not specified	Uncertain significance (Dec 28, 2022)
5-67104528-C-G		not specified	Uncertain significance (Feb 22, 2023)
5-67104529-G-A		not specified	Uncertain significance (Jan 16, 2024)
5-67110088-T-C			Likely benign (Sep 17, 2017)
5-67110101-C-T		not specified	Uncertain significance (Aug 26, 2022)
5-67110127-G-T		not specified	Uncertain significance (Feb 05, 2024)
5-67110147-T-C		not specified	Uncertain significance (Dec 14, 2023)
5-67110182-C-T		not specified	Uncertain significance (Jul 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAST4	protein_coding	protein_coding	ENST00000403625	29	573248

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000117	1.00	124453	0	208	124661	0.000835

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.93	1257	1.46e+3	0.858	0.0000853	16865
Missense in Polyphen		316	520.95	0.60658		6053
Synonymous	0.814	576	601	0.958	0.0000371	5416
Loss of Function	6.72	28	101	0.278	0.00000606	1190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000937	0.000936
Ashkenazi Jewish	0.00	0.00
East Asian	0.00485	0.00429
Finnish	0.000233	0.000232
European (Non-Finnish)	0.000464	0.000442
Middle Eastern	0.00485	0.00429
South Asian	0.00155	0.00141
Other	0.00121	0.00116

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0819

Intolerance Scores

• loftool: 0.913
• rvis_EVS: -0.22
• rvis_percentile_EVS: 37.7

Haploinsufficiency Scores

• pHI: 0.252
• hipred: Y
• hipred_score: 0.520
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.834

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mast4
• Phenotype: craniofacial phenotype; skeleton phenotype

Gene ontology

• Biological process: cytoskeleton organization;peptidyl-serine phosphorylation;intracellular signal transduction
• Cellular component: cytoplasm
• Molecular function: magnesium ion binding;protein serine/threonine kinase activity;ATP binding