MAEL

maelstrom spermatogenic transposon silencer

Basic information

Region (hg38): 1:166975582-167022214

Links

ENSG00000143194 ∙ NCBI:84944 ∙ OMIM:611368 ∙ HGNC:25929 ∙ Uniprot:Q96JY0 ∙ 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 MAEL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAEL 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			15	1	2	18
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)		1				1
splice region						0
non coding						0
Total	0	2	15	1	2

Variants in MAEL

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

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

Position	Type	Phenotype	Significance	ClinVar
1-166989362-C-T		not specified	Uncertain significance (Nov 18, 2022)
1-166989410-C-G		not specified	Uncertain significance (Feb 05, 2024)
1-166989750-A-G		not specified	Uncertain significance (Apr 19, 2023)
1-166989779-C-G		not specified	Uncertain significance (Oct 10, 2023)
1-166991427-A-G		not specified	Uncertain significance (May 31, 2023)
1-166991439-C-T		not specified	Uncertain significance (Jan 31, 2022)
1-166992733-G-A		not specified	Uncertain significance (Oct 05, 2023)
1-166992758-G-A			Benign (Apr 12, 2018)
1-166994040-G-A		not specified	Uncertain significance (Feb 16, 2023)
1-167004209-A-C		not specified	Uncertain significance (May 31, 2023)
1-167004273-A-T		not specified	Uncertain significance (Dec 26, 2023)
1-167004291-C-A			Benign (Dec 31, 2019)
1-167005315-C-A		not specified	Uncertain significance (Dec 18, 2023)
1-167005351-C-T		Male infertility	Likely pathogenic (Feb 27, 2023)
1-167016248-T-C		not specified	Uncertain significance (Dec 27, 2023)
1-167016285-G-C		Male infertility	Likely pathogenic (Feb 27, 2023)
1-167017869-G-C		not specified	Uncertain significance (Jan 26, 2022)
1-167017889-C-T		not specified	Uncertain significance (Sep 20, 2023)
1-167021151-A-G		not specified	Uncertain significance (Jan 18, 2023)
1-167021713-T-C		not specified	Uncertain significance (Mar 18, 2024)
1-167021755-A-G		not specified	Likely benign (May 11, 2022)
1-167021805-C-G		not specified	Uncertain significance (Jun 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAEL	protein_coding	protein_coding	ENST00000367872	12	33106

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00140	0.998	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.959	196	238	0.825	0.0000125	2837
Missense in Polyphen		51	78.681	0.64818		901
Synonymous	-0.207	82	79.7	1.03	0.00000400	797
Loss of Function	3.16	10	28.1	0.356	0.00000170	295

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000211	0.000211
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000107	0.000105
Middle Eastern	0.000218	0.000217
South Asian	0.000164	0.000163
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the 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. Its association with piP- bodies suggests a participation in the secondary piRNAs metabolic process. Required for the localization of germ-cell factors to the meiotic nuage (By similarity). {ECO:0000250|UniProtKB:Q8BVN9}.
• Pathway: Gene expression (Transcription);PIWI-interacting RNA (piRNA) biogenesis;Gene Silencing by RNA (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.711
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.91

Haploinsufficiency Scores

• pHI: 0.0975
• hipred: Y
• hipred_score: 0.647
• ghis: 0.449

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0360

Gene Damage Prediction

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

Mouse Genome Informatics

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

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;cell morphogenesis;synapsis;male meiotic nuclear division;multicellular organism development;spermatogenesis;intrinsic apoptotic signaling pathway in response to DNA damage;fertilization;cell differentiation;gene silencing by RNA;piRNA metabolic process;DNA methylation involved in gamete generation;negative regulation of apoptotic process;negative regulation of transcription, DNA-templated;regulation of organ growth;regulation of gene silencing by miRNA
• Cellular component: chromatin;XY body;nucleus;cytoplasm;autosome;chromatoid body;P granule;perinuclear region of cytoplasm;piP-body
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;sequence-specific DNA binding