MOSMO

modulator of smoothened

Basic information

Region (hg38): 16:22007638-22087534

Previous symbols: [ "C16orf52" ]

Links

ENSG00000185716 ∙ NCBI:730094 ∙ ∙ HGNC:27087 ∙ Uniprot:Q8NHV5 ∙ 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 MOSMO gene.

Variants pathogenicity by type

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

Variants in MOSMO

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

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

Position	Type	Phenotype	Significance	ClinVar
16-22075556-C-G		not specified	Uncertain significance (Jul 15, 2021)
16-22075624-A-G		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOSMO	protein_coding	protein_coding	ENST00000542527	3	79897

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.259	0.717	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	42	77.3	0.544	0.00000408	1036
Missense in Polyphen		6	15.615	0.38423		226
Synonymous	0.736	26	31.2	0.833	0.00000169	361
Loss of Function	1.89	2	7.65	0.261	5.60e-7	81

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

• Function: FUNCTION: Acts as a negative regulator of hedgehog signaling probably by promoting internalization and subsequent degradation of smoothened protein (SMO) present in the ciliary membrane. Plays a role in sonic hedgehog (SHH)-induced spinal neural progenitor cells differentiation. {ECO:0000250|UniProtKB:Q8C784}.

Haploinsufficiency Scores

• ghis: 0.480

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Mosmo

Gene ontology

• Biological process: regulation of protein stability;regulation of neuron differentiation;negative regulation of smoothened signaling pathway
• Cellular component: Golgi apparatus;plasma membrane;integral component of membrane;ciliary membrane