TMOD4

tropomodulin 4, the group of Tropomodulins

Basic information

Region (hg38): 1:151169986-151176284

Links

ENSG00000163157 ∙ NCBI:29765 ∙ OMIM:605834 ∙ HGNC:11874 ∙ Uniprot:Q9NZQ9 ∙ 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 TMOD4 gene.

• not_specified (48 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMOD4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000013353.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			48			48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMOD4	protein_coding	protein_coding	ENST00000295314	9	6299

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.83e-8	0.657	125602	1	144	125747	0.000577

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.715	177	206	0.860	0.0000115	2284
Missense in Polyphen		63	71.729	0.87831		834
Synonymous	1.05	61	72.4	0.842	0.00000378	642
Loss of Function	1.25	15	21.2	0.708	0.00000127	218

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00188	0.00188
Ashkenazi Jewish	0.00	0.00
East Asian	0.000490	0.000489
Finnish	0.00333	0.00329
European (Non-Finnish)	0.000158	0.000158
Middle Eastern	0.000490	0.000489
South Asian	0.000131	0.000131
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Blocks the elongation and depolymerization of the actin filaments at the pointed end. The Tmod/TM complex contributes to the formation of the short actin protofilament, which in turn defines the geometry of the membrane skeleton.
• Pathway: Striated Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.129

Intolerance Scores

• loftool: 0.458
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.41

Haploinsufficiency Scores

• pHI: 0.281
• hipred: N
• hipred_score: 0.350
• ghis: 0.498

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.903

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmod4

Zebrafish Information Network

• Gene name: tmod4
• Affected structure: fast muscle cell
• Phenotype tag: abnormal
• Phenotype quality: increased width

Gene ontology

• Biological process: muscle contraction;myofibril assembly;pointed-end actin filament capping
• Cellular component: striated muscle thin filament;myofibril
• Molecular function: tropomyosin binding;actin filament binding