MOB3A

MOB kinase activator 3A, the group of MOB kinase activators

Basic information

Region (hg38): 19:2071036-2096673

Previous symbols: [ "MOBKL2A" ]

Links

ENSG00000172081 ∙ NCBI:126308 ∙ ∙ HGNC:29802 ∙ Uniprot:Q96BX8 ∙ 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 MOB3A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOB3A 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			28	1		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	1	0

Variants in MOB3A

This is a list of pathogenic ClinVar variants found in the MOB3A region.

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

Position	Type	Phenotype	Significance	ClinVar
19-2073412-C-T		not specified	Uncertain significance (Sep 10, 2024)
19-2076827-T-C		not specified	Uncertain significance (Nov 11, 2024)
19-2076844-G-T		not specified	Uncertain significance (Oct 29, 2024)
19-2076855-C-T		not specified	Uncertain significance (Nov 03, 2023)
19-2076882-T-C		not specified	Uncertain significance (Jul 12, 2023)
19-2076912-C-T		not specified	Uncertain significance (Oct 27, 2022)
19-2076918-G-A		not specified	Uncertain significance (Mar 25, 2024)
19-2076975-T-G			Likely benign (Feb 01, 2023)
19-2076983-G-A		not specified	Uncertain significance (Mar 31, 2024)
19-2077003-A-C		not specified	Uncertain significance (Jun 02, 2023)
19-2077013-C-T		not specified	Uncertain significance (Aug 05, 2024)
19-2078143-C-T		not specified	Uncertain significance (Feb 15, 2023)
19-2078182-C-T		not specified	Uncertain significance (May 14, 2024)
19-2078190-T-C		not specified	Uncertain significance (Mar 10, 2025)
19-2078226-G-A		not specified	Uncertain significance (Nov 10, 2024)
19-2078235-T-C		not specified	Uncertain significance (Mar 16, 2024)
19-2078238-C-T		not specified	Uncertain significance (Jun 11, 2021)
19-2078293-C-A		not specified	Uncertain significance (Feb 23, 2025)
19-2078304-T-G		not specified	Uncertain significance (May 12, 2024)
19-2078310-G-A		not specified	Uncertain significance (Mar 23, 2023)
19-2078317-C-T		not specified	Uncertain significance (Oct 12, 2021)
19-2078358-A-T		not specified	Uncertain significance (Sep 14, 2022)
19-2078395-C-T		not specified	Uncertain significance (Jan 01, 2025)
19-2078403-G-A		not specified	Uncertain significance (Jan 26, 2025)
19-2078412-T-C		not specified	Uncertain significance (Jan 19, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOB3A	protein_coding	protein_coding	ENST00000357066	3	25636

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000291	0.347	125709	0	37	125746	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.639	182	159	1.14	0.0000118	1436
Missense in Polyphen		88	75.088	1.172		663
Synonymous	0.682	68	75.5	0.900	0.00000648	406
Loss of Function	0.111	7	7.32	0.956	3.12e-7	82

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000418	0.000417
Ashkenazi Jewish	0.00	0.00
East Asian	0.000109	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000134	0.000132
Middle Eastern	0.000109	0.000109
South Asian	0.000295	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May regulate the activity of kinases. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: -0.25
• rvis_percentile_EVS: 36.07

Haploinsufficiency Scores

• pHI: 0.115
• hipred: N
• hipred_score: 0.400
• ghis: 0.567

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mob3a

Gene ontology

• Molecular function: metal ion binding