MOV10L1

Mov10 like RISC complex RNA helicase 1, the group of UPF1 like RNA helicases

Basic information

Region (hg38): 22:50090006-50161690

Links

ENSG00000073146 ∙ NCBI:54456 ∙ OMIM:605794 ∙ HGNC:7201 ∙ Uniprot:Q9BXT6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 73	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	35476666

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MOV10L1 gene.

• Spermatogenic failure 73 (1 variants)
• Non-obstructive azoospermia (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOV10L1 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	2	3
missense		1	76	6	3	86
nonsense						0
start loss						0
frameshift	1					1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region		1				1
non coding						0
Total	1	1	76	7	5

Variants in MOV10L1

This is a list of pathogenic ClinVar variants found in the MOV10L1 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-50090107-A-G		not specified	Uncertain significance (Feb 11, 2022)
22-50090149-G-C		not specified	Uncertain significance (Mar 15, 2024)
22-50090173-G-C		not specified	Uncertain significance (Sep 01, 2021)
22-50092021-G-A		not specified	Uncertain significance (Feb 03, 2022)
22-50092021-G-C		not specified	Uncertain significance (Aug 02, 2021)
22-50092051-G-A		not specified	Uncertain significance (Apr 22, 2024)
22-50092073-T-C		not specified	Uncertain significance (Feb 26, 2024)
22-50092126-C-A		not specified	Uncertain significance (May 26, 2024)
22-50092127-A-G		not specified	Uncertain significance (Mar 27, 2023)
22-50092136-T-C		not specified	Uncertain significance (Dec 05, 2022)
22-50092142-T-C		not specified	Uncertain significance (Feb 14, 2023)
22-50099459-A-G		not specified	Uncertain significance (Feb 01, 2023)
22-50099473-G-A		not specified	Uncertain significance (Jan 04, 2022)
22-50099551-G-A			Benign (Dec 01, 2022)
22-50099582-C-G		not specified	Uncertain significance (Aug 04, 2023)
22-50099599-G-A		not specified	Uncertain significance (Oct 17, 2023)
22-50108136-G-C		not specified	Uncertain significance (Oct 20, 2023)
22-50108180-A-T		not specified	Uncertain significance (Sep 26, 2023)
22-50108183-C-T		not specified	Uncertain significance (Oct 17, 2023)
22-50108203-C-G		not specified	Uncertain significance (Nov 02, 2023)
22-50108204-G-A		not specified	Uncertain significance (Jul 09, 2021)
22-50108237-C-T			Benign (Mar 24, 2020)
22-50108754-G-A		not specified	Uncertain significance (Jul 09, 2021)
22-50108849-G-A		Azoospermia	Pathogenic (Dec 20, 2021)
22-50113683-A-G		not specified	Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOV10L1	protein_coding	protein_coding	ENST00000262794	27	71812

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.05e-17	0.998	125636	0	112	125748	0.000445

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.18	602	689	0.874	0.0000401	7872
Missense in Polyphen		125	200.17	0.62447		2292
Synonymous	-0.240	284	279	1.02	0.0000184	2333
Loss of Function	3.07	38	64.6	0.588	0.00000340	766

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000887	0.000887
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000218	0.000217
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000577	0.000571
Middle Eastern	0.000218	0.000217
South Asian	0.000295	0.000294
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: ATP-dependent RNA helicase required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Involved in the primary piRNA metabolic process. Specifically binds to piRNA precursors and promotes the generation of intermediate piRNA processing fragments that are subsequently loaded to Piwi proteins. Acts via its ATP-dependent RNA helicase activity: displays 5'-3' RNA unwinding activity and probably mediates unwinding and funneling of single-stranded piRNA precursor transcripts to the endonuclease that catalyzes the first cleavage step of piRNA processing to generate piRNA intermediate fragments that are subsequently loaded to Piwi proteins. {ECO:0000250|UniProtKB:Q99MV5}.
• Pathway: Gene expression (Transcription);PIWI-interacting RNA (piRNA) biogenesis;Gene Silencing by RNA (Consensus)

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.0247
• rvis_EVS: -0.69
• rvis_percentile_EVS: 14.84

Haploinsufficiency Scores

• pHI: 0.0863
• hipred: N
• hipred_score: 0.368
• ghis: 0.368

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.216

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Mov10l1
• Phenotype: reproductive system phenotype; endocrine/exocrine gland phenotype; cellular phenotype

Gene ontology

• Biological process: male meiosis I;multicellular organism development;germ cell development;spermatogenesis;piRNA metabolic process;posttranscriptional gene silencing by RNA;DNA methylation involved in gamete generation
• Cellular component: cytosol;P granule;pi-body
• Molecular function: magnesium ion binding;RNA binding;ATP-dependent RNA helicase activity;ATP binding