MYO1G

myosin IG, the group of Myosin heavy chains, class I|Minor histocompatibility antigens

Basic information

Region (hg38): 7:44962662-44979088

Links

ENSG00000136286

∙ NCBI:64005 ∙ OMIM:600642 ∙ HGNC:13880 ∙ Uniprot:B0I1T2 ∙ 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 MYO1G gene.

not_specified (152 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYO1G gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033054.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			150 clinvar	2 clinvar		152
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	150	3	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYO1G	protein_coding	protein_coding	ENST00000258787	22	16437

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.36e-10	1.00	125688	0	60	125748	0.000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.86	511	644	0.794	0.0000431	6575
Missense in Polyphen		239	319.43	0.7482		3368
Synonymous	1.86	215	253	0.851	0.0000158	2047
Loss of Function	3.67	25	54.2	0.462	0.00000319	547

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000883	0.000880
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000529	0.0000462
European (Non-Finnish)	0.000283	0.000281
Middle Eastern	0.000163	0.000163
South Asian	0.000163	0.000163
Other	0.000165	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Unconventional myosin required during immune response for detection of rare antigen-presenting cells by regulating T- cell migration. Unconventional myosins are actin-based motor molecules with ATPase activity and serve in intracellular movements. Acts as a regulator of T-cell migration by generating membrane tension, enforcing cell-intrinsic meandering search, thereby enhancing detection of rare antigens during lymph-node surveillance, enabling pathogen eradication. Also required in B- cells, where it regulates different membrane/cytoskeleton- dependent processes. Involved in Fc-gamma receptor (Fc-gamma-R) phagocytosis. {ECO:0000250|UniProtKB:Q5SUA5}.;

Recessive Scores

pRec: 0.122

Intolerance Scores

loftool: 0.144
rvis_EVS: -0.83
rvis_percentile_EVS: 11.51

Haploinsufficiency Scores

pHI: 0.151
hipred: Y
hipred_score: 0.563
ghis: 0.563

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.756

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Myo1g
Phenotype: hematopoietic system phenotype; immune system phenotype;

Gene ontology

Biological process: T cell mediated immunity;exocytosis;cell-substrate adhesion;Fc-gamma receptor signaling pathway involved in phagocytosis;cell gliding;T cell migration;T cell meandering migration
Cellular component: phagocytic cup;plasma membrane;microvillus;membrane;myosin complex;lamellipodium;filopodium;leading edge membrane;extracellular exosome
Molecular function: motor activity;actin binding;calmodulin binding;ATP binding;phosphatidylinositol-4,5-bisphosphate binding;phosphatidylinositol-3,4,5-trisphosphate binding;phosphatidylinositol-3,4-bisphosphate binding