MAB21L3

mab-21 like 3, the group of MAB21 family

Basic information

Region (hg38): 1:116111399-116138149

Previous symbols: [ "C1orf161" ]

Links

ENSG00000173212 ∙ NCBI:126868 ∙ ∙ HGNC:26787 ∙ Uniprot:Q8N8X9 ∙ 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 MAB21L3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAB21L3 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
missense			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	1	0

Variants in MAB21L3

This is a list of pathogenic ClinVar variants found in the MAB21L3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-116112644-A-G		not specified	Uncertain significance (Sep 20, 2023)
1-116120944-C-T		not specified	Uncertain significance (Aug 12, 2021)
1-116120945-G-A		not specified	Uncertain significance (Apr 04, 2024)
1-116124109-G-C		not specified	Uncertain significance (Jan 18, 2022)
1-116124147-C-T		not specified	Uncertain significance (Sep 17, 2021)
1-116124169-C-G		not specified	Uncertain significance (Dec 01, 2022)
1-116124181-G-A		not specified	Uncertain significance (Mar 28, 2024)
1-116124189-C-G		not specified	Uncertain significance (Oct 06, 2021)
1-116124190-G-A		not specified	Uncertain significance (Oct 26, 2022)
1-116124224-G-A			Likely benign (Mar 01, 2023)
1-116124244-T-G		not specified	Uncertain significance (Apr 20, 2024)
1-116124298-A-C		not specified	Uncertain significance (Oct 03, 2022)
1-116124309-G-A		not specified	Uncertain significance (Jun 12, 2023)
1-116124315-C-T		not specified	Uncertain significance (Mar 11, 2024)
1-116124334-C-A		not specified	Uncertain significance (Dec 04, 2023)
1-116127489-C-T		not specified	Uncertain significance (Jun 28, 2022)
1-116127567-A-C		not specified	Uncertain significance (Apr 09, 2024)
1-116127610-G-A		not specified	Uncertain significance (May 25, 2022)
1-116128239-A-G		not specified	Uncertain significance (Apr 26, 2023)
1-116128323-C-T		not specified	Uncertain significance (Aug 31, 2022)
1-116133159-T-C		not specified	Uncertain significance (Feb 12, 2024)
1-116133261-G-A		not specified	Uncertain significance (Dec 21, 2023)
1-116133343-A-G		not specified	Uncertain significance (Mar 30, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAB21L3	protein_coding	protein_coding	ENST00000369500	6	23486

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.69e-7	0.785	125613	2	133	125748	0.000537

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.104	216	212	1.02	0.0000124	2365
Missense in Polyphen		68	70.612	0.963		812
Synonymous	0.322	81	84.8	0.956	0.00000483	696
Loss of Function	1.33	12	18.1	0.663	8.38e-7	195

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000905	0.000905
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000441	0.000440
Middle Eastern	0.00	0.00
South Asian	0.00165	0.00157
Other	0.000980	0.000978

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.67
• rvis_percentile_EVS: 15.86

Haploinsufficiency Scores

• pHI: 0.249
• hipred: N
• hipred_score: 0.251
• ghis: 0.474

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mab21l3

Gene ontology

• Molecular function: protein binding