MBLAC1

metallo-beta-lactamase domain containing 1, the group of MBL domain containing glyoxalase 2 subfamily

Basic information

Region (hg38): 7:100126785-100128495

Links

ENSG00000214309 ∙ NCBI:255374 ∙ ∙ HGNC:22180 ∙ Uniprot:A4D2B0 ∙ 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 MBLAC1 gene.

• not_specified (32 variants)
• Congenital_long_QT_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MBLAC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000203397.3. 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						0
missense			32			32
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)		1				1
Total	0	1	32	0	0

Highest pathogenic variant AF is 7.120205e-7

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MBLAC1	protein_coding	protein_coding	ENST00000398075	1	1802

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.213	0.658	110675	0	15	110690	0.0000678

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.20	93	132	0.706	0.00000595	1595
Missense in Polyphen		22	42.706	0.51515		549
Synonymous	1.02	54	64.4	0.838	0.00000300	627
Loss of Function	1.05	1	2.94	0.340	1.30e-7	33

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.000765	0.000753
Finnish	0.00	0.00
European (Non-Finnish)	0.0000205	0.0000200
Middle Eastern	0.000765	0.000753
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.314
• ghis: 0.408

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.266

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mblac1

Gene ontology

• Molecular function: hydrolase activity;metal ion binding