MZB1
Basic information
Region (hg38): 5:139387467-139390081
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MZB1 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 | 2 | |||||
missense | 12 | 16 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 12 | 5 | 1 |
Variants in MZB1
This is a list of pathogenic ClinVar variants found in the MZB1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
5-139387768-G-C | Likely benign (Mar 01, 2023) | |||
5-139387792-C-A | not specified | Uncertain significance (Dec 22, 2023) | ||
5-139387868-T-G | not specified | Uncertain significance (Jun 30, 2024) | ||
5-139387920-G-A | not specified | Uncertain significance (Jun 04, 2024) | ||
5-139388042-G-A | not specified | Uncertain significance (Mar 21, 2023) | ||
5-139388099-C-T | not specified | Likely benign (Oct 03, 2023) | ||
5-139388114-A-C | not specified | Uncertain significance (Oct 20, 2023) | ||
5-139388120-C-T | not specified | Likely benign (Aug 05, 2024) | ||
5-139388127-C-T | not specified | Uncertain significance (Jun 16, 2023) | ||
5-139388473-C-T | not specified | Likely benign (Jun 05, 2024) | ||
5-139388495-C-A | not specified | Uncertain significance (Dec 01, 2022) | ||
5-139388513-C-T | not specified | Uncertain significance (Aug 07, 2024) | ||
5-139388527-C-T | not specified | Uncertain significance (Mar 31, 2022) | ||
5-139389712-G-A | not specified | Uncertain significance (Nov 13, 2024) | ||
5-139389759-T-G | not specified | Uncertain significance (Nov 03, 2023) | ||
5-139389783-G-A | not specified | Uncertain significance (Mar 06, 2023) | ||
5-139389807-A-G | Benign (Dec 11, 2017) | |||
5-139389832-G-A | Likely benign (Mar 01, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MZB1 | protein_coding | protein_coding | ENST00000302125 | 4 | 2602 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000316 | 0.600 | 124470 | 0 | 14 | 124484 | 0.0000562 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.413 | 90 | 102 | 0.885 | 0.00000572 | 1149 |
Missense in Polyphen | 32 | 34.053 | 0.9397 | 439 | ||
Synonymous | 0.346 | 40 | 42.9 | 0.933 | 0.00000234 | 396 |
Loss of Function | 0.605 | 6 | 7.83 | 0.767 | 3.93e-7 | 87 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000668 | 0.0000668 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000607 | 0.0000556 |
Finnish | 0.0000501 | 0.0000464 |
European (Non-Finnish) | 0.0000695 | 0.0000621 |
Middle Eastern | 0.0000607 | 0.0000556 |
South Asian | 0.0000734 | 0.0000654 |
Other | 0.000176 | 0.000165 |
dbNSFP
Source:
- Function
- FUNCTION: Associates with immunoglobulin M (IgM) heavy and light chains and promotes IgM assembly and secretion. May exert its effect by acting as a molecular chaperone or as an oxidoreductase as it displays a low level of oxidoreductase activity (By similarity). Isoform 2 may be involved in regulation of apoptosis. Helps to diversify peripheral B-cell functions by regulating Ca(2+) stores, antibody secretion and integrin activation. {ECO:0000250, ECO:0000269|PubMed:11350957, ECO:0000269|PubMed:21688198}.;
Intolerance Scores
- loftool
- rvis_EVS
- 0.06
- rvis_percentile_EVS
- 58.53
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.354
- ghis
- 0.544
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mzb1
- Phenotype
Gene ontology
- Biological process
- positive regulation of immunoglobulin biosynthetic process;apoptotic process;positive regulation of cell population proliferation;regulation of B cell proliferation;integrin activation;regulation of cell population proliferation;regulation of insulin receptor signaling pathway
- Cellular component
- extracellular region;endoplasmic reticulum lumen;endoplasmic reticulum chaperone complex
- Molecular function