MOB3C

protein-coding

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

Gene summary

The protein encoded by this gene is similar to the yeast Mob1 protein. Yeast Mob1 binds Mps1p, a protein kinase essential for spindle pole body duplication and mitotic checkpoint regulation. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]

Previous symbols:

MOBKL2C

MANE transcript

NM_201403.3

Inheritance

—

ClinVar variants

U:53

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.7

Max pathogenic AF

—

Genomic locus

chr1:46,607,719-46,616,811

External References & Databases

Ensembl (ENSG00000142961)

Transcript & Mutation Effects

hg38 • Region Span ~9.1 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 MOB3C variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 54

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_201403.3. 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						0
missense			53 clinvar			53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	0	0	53

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_201403.3	RefSeq	NP_958805.1	3	MANE Select
ENST00000319928.9	Ensembl	ENSP00000315113.3	3	MANE Select
NM_145279.5	RefSeq	NP_660322.3	3	Standard
ENST00000271139.13	Ensembl	ENSP00000271139.9	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
metal ion binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000271139
Coding exons: 4
Length: 9177
Individuals with no LoFs: 125696
Homozygous LoFs: 0
Heterozygous LoFs: 52
Defined: 125748
p: 0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.638	169	194	0.871	0.0000138	1754
Missense (PolyPhen)		54	51.152	1.0557		465
Synonymous	1.87	58	79.1	0.733	0.00000592	520
Loss of Function	1.02	9	12.9	0.695	6.93e-7	123

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000058	0.000058	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00022	0.00022	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00018	0.00017	rare
South Asian	0.00075	0.00075	rare
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.113

Intolerance Scores

RVIS EVS: 0.75
RVIS percentile EVS: 86.57

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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