MEI1

meiotic double-stranded break formation protein 1, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 22:41699503-41799456

Links

ENSG00000167077 ∙ NCBI:150365 ∙ OMIM:608797 ∙ HGNC:28613 ∙ Uniprot:Q5TIA1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complete hydatidiform mole (Supportive), mode of inheritance: AR
• hydatidiform mole, recurrent, 3 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Hydatidiform mole, recurrent, 3	AR	Obstetric; Oncologic	Women are likely to have pregnancies with hydatidiform moles, and awareness may allow reproductive planning and/or surveillance measures, which may allow early detection and treatment	Obstetric; Oncologic	30388401

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MEI1 gene.

• not_specified (145 variants)
• MEI1-related_disorder (29 variants)
• not_provided (16 variants)
• Hydatidiform_mole,_recurrent,_3 (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MEI1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152513.4. 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				9	4	13
missense		1	134	15	6	156
nonsense		1	3			4
start loss						0
frameshift	2					2
splice donor/acceptor (+/-2bp)	1	3				4
Total	3	5	137	24	10

Highest pathogenic variant AF is 0.00043196892

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MEI1	protein_coding	protein_coding	ENST00000401548	31	99958

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.71e-12	1.00	124638	0	127	124765	0.000509

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.872	608	672	0.905	0.0000349	8205
Missense in Polyphen		210	258.92	0.81105		3346
Synonymous	0.135	280	283	0.990	0.0000148	2597
Loss of Function	3.95	30	64.1	0.468	0.00000322	758

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00119	0.00119
Ashkenazi Jewish	0.000199	0.000199
East Asian	0.00103	0.00100
Finnish	0.0000928	0.0000928
European (Non-Finnish)	0.000450	0.000442
Middle Eastern	0.00103	0.00100
South Asian	0.000483	0.000458
Other	0.000838	0.000824

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for normal meiotic chromosome synapsis. May be involved in the formation of meiotic double-strand breaks (DSBs) in spermatocytes (By similarity). {ECO:0000250|UniProtKB:Q9D4I2}.

Intolerance Scores

• loftool: 0.938
• rvis_EVS: -0.46
• rvis_percentile_EVS: 23.7

Haploinsufficiency Scores

• pHI: 0.0811
• hipred: Y
• hipred_score: 0.504
• ghis: 0.467

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.129

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mei1
• Phenotype: endocrine/exocrine gland phenotype; reproductive system phenotype

Gene ontology

• Biological process: male meiosis I;spermatid development;meiotic telomere clustering
• Cellular component: cell