MOS

MOS proto-oncogene, serine/threonine kinase

Basic information

Region (hg38): 8:56112942-56113982

Links

ENSG00000172680 ∙ NCBI:4342 ∙ OMIM:190060 ∙ HGNC:7199 ∙ Uniprot:P00540 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• oocyte/zygote/embryo maturation arrest 20 (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Oocyte/zygote/embryo maturation arrest 20	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Obstetric	34779126; 34997960; 35670744

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MOS gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOS 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				2		2
missense			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	3	0

Variants in MOS

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

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

Position	Type	Phenotype	Significance	ClinVar
8-56112964-G-C		not specified	Uncertain significance (Oct 26, 2022)
8-56112973-T-G		not specified	Uncertain significance (May 29, 2024)
8-56113001-T-C		not specified	Uncertain significance (Oct 17, 2023)
8-56113011-G-A			Likely benign (Dec 01, 2022)
8-56113023-G-T		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113024-C-A		not specified	Uncertain significance (May 14, 2024)
8-56113027-C-T		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113054-C-T		not specified	Uncertain significance (May 30, 2022)
8-56113108-G-A		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113124-G-C		not specified	Uncertain significance (Mar 31, 2024)
8-56113153-G-T		not specified	Uncertain significance (Jun 29, 2022)
8-56113192-G-C		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113246-C-T		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113282-G-T		not specified	Uncertain significance (Feb 27, 2023)
8-56113387-T-A		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113392-A-C		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113444-T-G		not specified	Uncertain significance (Mar 07, 2023)
8-56113452-C-A		not specified	Uncertain significance (Dec 15, 2022)
8-56113515-GC-G		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113523-C-T		not specified	Uncertain significance (Mar 31, 2024)
8-56113567-A-G		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113617-A-T			Likely benign (Oct 01, 2023)
8-56113684-C-T		not specified	Likely benign (May 31, 2023)
8-56113698-G-T		Oocyte/zygote/embryo maturation arrest 20	Pathogenic (May 17, 2023)
8-56113765-G-A		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOS	protein_coding	protein_coding	ENST00000311923	1	1041

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.589	0.402	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.15	177	225	0.785	0.0000142	2177
Missense in Polyphen		74	103.95	0.71187		1038
Synonymous	1.49	85	104	0.815	0.00000686	771
Loss of Function	2.10	1	6.98	0.143	3.46e-7	83

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Pathway: Oocyte meiosis - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Preimplantation Embryo;MAPK Signaling Pathway;Regulation of Actin Cytoskeleton;IL-7 signaling;JAK STAT pathway and regulation;EPO signaling;VEGF (Consensus)

Recessive Scores

• pRec: 0.212

Intolerance Scores

• loftool: 0.308
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.22

Haploinsufficiency Scores

• pHI: 0.215
• hipred: N
• hipred_score: 0.314

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.890

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mos
• Phenotype: neoplasm; reproductive system phenotype; endocrine/exocrine gland phenotype

Gene ontology

• Biological process: MAPK cascade;activation of MAPKK activity;activation of MAPK activity;meiotic spindle organization;chromatin organization;positive regulation of MAPK cascade;protein autophosphorylation;establishment of meiotic spindle orientation;negative regulation of metaphase/anaphase transition of meiotic cell cycle
• Cellular component: cytoplasm;cytosol
• Molecular function: protein serine/threonine kinase activity;MAP kinase kinase kinase activity;protein binding;ATP binding