MUSTN1

musculoskeletal, embryonic nuclear protein 1

Basic information

Region (hg38): 3:52833114-52835019

Links

ENSG00000272573 ∙ NCBI:389125 ∙ OMIM:617195 ∙ HGNC:22144 ∙ Uniprot:Q8IVN3 ∙ 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 MUSTN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MUSTN1 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			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in MUSTN1

This is a list of pathogenic ClinVar variants found in the MUSTN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-52833397-C-G		not specified	Uncertain significance (Mar 20, 2024)
3-52833728-T-C		not specified	Uncertain significance (Oct 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MUSTN1	protein_coding	protein_coding	ENST00000446157	3	2106

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000706	0.310	124597	0	33	124630	0.000132

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.203	57	52.9	1.08	0.00000336	512
Missense in Polyphen		32	29.554	1.0828		294
Synonymous	1.32	14	21.9	0.640	0.00000154	161
Loss of Function	-0.164	6	5.58	1.08	4.08e-7	49

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000626	0.000601
Ashkenazi Jewish	0.00	0.00
East Asian	0.000223	0.000223
Finnish	0.000186	0.000186
European (Non-Finnish)	0.0000892	0.0000885
Middle Eastern	0.000223	0.000223
South Asian	0.0000364	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in the development and regeneration of the musculoskeletal system. {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.37
• rvis_percentile_EVS: 74.95

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112

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: Mustn1

Zebrafish Information Network

• Gene name: mustn1a
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: chondrocyte differentiation;chondrocyte proliferation;tissue regeneration
• Cellular component: nucleus