MTUS1

microtubule associated scaffold protein 1, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 8:17643795-17801094

Links

ENSG00000129422 ∙ NCBI:57509 ∙ OMIM:609589 ∙ HGNC:29789 ∙ Uniprot:Q9ULD2 ∙ 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 MTUS1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MTUS1 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				1	1	2
missense			36	7	4	47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	36	8	6

Variants in MTUS1

This is a list of pathogenic ClinVar variants found in the MTUS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-17645940-T-C		not specified	Likely benign (Jan 30, 2024)
8-17645951-G-A		not specified	Uncertain significance (Apr 17, 2024)
8-17645951-G-C		not specified	Uncertain significance (Sep 20, 2023)
8-17645955-A-G		not specified	Uncertain significance (Dec 06, 2022)
8-17645958-A-G		not specified	Uncertain significance (Oct 04, 2022)
8-17646034-G-C		not specified	Uncertain significance (Jan 12, 2024)
8-17646089-G-A		not specified	Uncertain significance (Mar 28, 2024)
8-17646096-T-C		not specified	Uncertain significance (Dec 05, 2022)
8-17649946-A-G		not specified	Uncertain significance (Jun 07, 2024)
8-17653211-C-G		not specified	Uncertain significance (Jul 16, 2021)
8-17653215-T-C		not specified	Uncertain significance (Jul 13, 2022)
8-17653217-T-A		not specified	Uncertain significance (Apr 06, 2024)
8-17653257-C-G			Likely benign (Jan 01, 2023)
8-17653271-T-C		not specified	Likely benign (Dec 17, 2023)
8-17653275-T-C		not specified	Uncertain significance (Dec 11, 2023)
8-17653432-G-A		not specified	Uncertain significance (Jan 04, 2024)
8-17653465-G-A		not specified	Uncertain significance (Aug 30, 2021)
8-17654567-G-C		not specified	Uncertain significance (Mar 24, 2023)
8-17654573-C-T		not specified	Likely benign (Feb 26, 2024)
8-17654660-T-G		not specified	Uncertain significance (Dec 17, 2021)
8-17655866-C-G		not specified	Uncertain significance (Apr 08, 2024)
8-17655903-A-G		not specified	Uncertain significance (Jan 10, 2022)
8-17655929-C-A		not specified	Uncertain significance (May 02, 2024)
8-17655975-T-C			Benign (Apr 12, 2018)
8-17655981-T-C		not specified	Uncertain significance (Dec 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MTUS1	protein_coding	protein_coding	ENST00000262102	14	157123

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.58e-11	1.00	124710	0	84	124794	0.000337

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-5.93	1063	640	1.66	0.0000328	8305
Missense in Polyphen		256	161.06	1.5895		2322
Synonymous	-3.71	325	250	1.30	0.0000140	2391
Loss of Function	3.33	26	51.9	0.501	0.00000259	712

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.00268	0.00262
Finnish	0.0000930	0.0000928
European (Non-Finnish)	0.000203	0.000203
Middle Eastern	0.00268	0.00262
South Asian	0.000196	0.000196
Other	0.000331	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cooperates with AGTR2 to inhibit ERK2 activation and cell proliferation. May be required for AGTR2 cell surface expression. Together with PTPN6, induces UBE2V2 expression upon angiotensin-II stimulation. Isoform 1 inhibits breast cancer cell proliferation, delays the progression of mitosis by prolonging metaphase and reduces tumor growth. {ECO:0000269|PubMed:12692079, ECO:0000269|PubMed:19794912}.
• Disease: DISEASE: Hepatocellular carcinoma (HCC) [MIM:114550]: A primary malignant neoplasm of epithelial liver cells. The major risk factors for HCC are chronic hepatitis B virus (HBV) infection, chronic hepatitis C virus (HCV) infection, prolonged dietary aflatoxin exposure, alcoholic cirrhosis, and cirrhosis due to other causes. {ECO:0000269|PubMed:16650523}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.832
• rvis_EVS: 2.1
• rvis_percentile_EVS: 97.87

Haploinsufficiency Scores

• pHI: 0.164
• hipred: N
• hipred_score: 0.369
• ghis: 0.398

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.873

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mtus1
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm; immune system phenotype; renal/urinary system phenotype; digestive/alimentary phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Gene ontology

• Biological process: regulation of macrophage chemotaxis
• Cellular component: extracellular space;nucleus;nucleolus;cytoplasm;mitochondrion;Golgi apparatus;microtubule organizing center;spindle;microtubule;plasma membrane;microtubule cytoskeleton
• Molecular function: microtubule binding