MAST4

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

Basic information

Region (hg38): 5:66596380-67169593

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.

• not_specified (300 variants)
• not_provided (26 variants)
• Infantile_spasms (3 variants)
• MAST-associated_epilepsy_syndrome (1 variants)
• Moyamoya_angiopathy (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. These statistics are base on transcript: NM_001164664.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				10	3	13
missense		3	279	24	3	309
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	3	280	34	6

Highest pathogenic variant AF is 0.0000027365359

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