MSS51

MSS51 mitochondrial translational activator, the group of Zinc fingers MYND-type

Basic information

Region (hg38): 10:73423579-73433561

Previous symbols: [ "ZMYND17" ]

Links

ENSG00000166343 ∙ NCBI:118490 ∙ OMIM:614773 ∙ HGNC:21000 ∙ Uniprot:Q4VC12 ∙ 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 MSS51 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MSS51 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			27	2		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1			1
splice region						0
non coding						0
Total	0	0	28	2	0

Variants in MSS51

This is a list of pathogenic ClinVar variants found in the MSS51 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-73424594-C-T		not specified	Uncertain significance (Feb 06, 2023)
10-73424608-C-T		not specified	Uncertain significance (Dec 21, 2023)
10-73424615-G-A		not specified	Uncertain significance (Sep 29, 2022)
10-73424633-C-T		not specified	Uncertain significance (May 02, 2024)
10-73424762-A-C		not specified	Uncertain significance (Sep 14, 2022)
10-73425105-C-T		not specified	Uncertain significance (Aug 04, 2023)
10-73425111-T-C		not specified	Uncertain significance (Apr 06, 2023)
10-73425135-G-A		not specified	Uncertain significance (Mar 29, 2024)
10-73425822-G-A		not specified	Uncertain significance (Jan 17, 2024)
10-73425838-G-A		not specified	Uncertain significance (Sep 01, 2021)
10-73425885-T-C		not specified	Uncertain significance (Sep 26, 2023)
10-73425894-C-T		not specified	Likely benign (Jul 14, 2022)
10-73425931-G-A		not specified	Uncertain significance (Mar 20, 2023)
10-73426009-G-A		not specified	Uncertain significance (Apr 25, 2022)
10-73426044-C-T		not specified	Uncertain significance (Aug 04, 2021)
10-73426072-C-A		not specified	Uncertain significance (Sep 22, 2023)
10-73426119-C-T		not specified	Likely benign (Feb 22, 2023)
10-73426135-C-T		not specified	Uncertain significance (May 30, 2024)
10-73426143-A-G		not specified	Uncertain significance (Oct 03, 2023)
10-73426156-G-A		not specified	Uncertain significance (Jun 30, 2022)
10-73426206-G-C		not specified	Uncertain significance (May 09, 2023)
10-73426221-C-T		not specified	Uncertain significance (Nov 20, 2023)
10-73426283-A-C		not specified	Uncertain significance (Jun 06, 2023)
10-73426285-C-T		not specified	Uncertain significance (Jun 11, 2024)
10-73426298-C-G		not specified	Uncertain significance (Jan 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MSS51	protein_coding	protein_coding	ENST00000299432	6	9981

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.28e-11	0.0874	124630	11	1107	125748	0.00446

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.551	236	261	0.904	0.0000137	2955
Missense in Polyphen		41	56.149	0.7302		717
Synonymous	1.11	84	98.0	0.857	0.00000475	971
Loss of Function	0.318	17	18.5	0.920	0.00000103	199

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00437	0.00437
Ashkenazi Jewish	0.00198	0.00199
East Asian	0.000435	0.000435
Finnish	0.0128	0.0127
European (Non-Finnish)	0.00440	0.00440
Middle Eastern	0.000435	0.000435
South Asian	0.00598	0.00580
Other	0.00424	0.00424

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.47
• rvis_percentile_EVS: 78.8

Haploinsufficiency Scores

• pHI: 0.198
• hipred: N
• hipred_score: 0.170
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: 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: Mss51

Gene ontology

• Biological process: social behavior
• Molecular function: metal ion binding