MBNL3
muscleblind like splicing regulator 3, the group of Zinc fingers CCCH-type
Basic information
Region (hg38): X:132369320-132489968
Links
Phenotypes
GenCC
Source:
No genCC data.
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 MBNL3 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 | 10 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 1 | 0 |
Variants in MBNL3
This is a list of pathogenic ClinVar variants found in the MBNL3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| X-132382191-G-A | not specified | Uncertain significance (Jan 18, 2022) | ||
| X-132382258-C-T | not specified | Uncertain significance (Dec 11, 2024) | ||
| X-132386753-T-C | not specified | Uncertain significance (Feb 27, 2024) | ||
| X-132386816-G-T | MBNL3-related disorder | Likely benign (Jun 24, 2019) | ||
| X-132390944-G-A | not specified | Uncertain significance (Jul 25, 2023) | ||
| X-132390950-C-T | not specified | Uncertain significance (Dec 14, 2024) | ||
| X-132390960-T-C | not specified | Uncertain significance (Dec 21, 2022) | ||
| X-132391091-C-T | Benign (Dec 31, 2019) | |||
| X-132392244-C-T | not specified | Uncertain significance (Feb 10, 2025) | ||
| X-132392246-G-A | not specified | Uncertain significance (Feb 28, 2025) | ||
| X-132392322-T-C | Likely benign (Dec 01, 2022) | |||
| X-132392325-G-C | not specified | Uncertain significance (Sep 12, 2023) | ||
| X-132392333-C-A | not specified | Uncertain significance (Jul 08, 2024) | ||
| X-132406245-C-T | not specified | Uncertain significance (Nov 22, 2022) | ||
| X-132406269-G-T | MBNL3-related disorder | Uncertain significance (Nov 22, 2022) | ||
| X-132406356-G-A | not specified | Uncertain significance (Jul 19, 2022) | ||
| X-132439583-C-G | MBNL3-related disorder | Uncertain significance (Feb 10, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| MBNL3 | protein_coding | protein_coding | ENST00000370853 | 8 | 120652 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.686 | 0.313 | 123142 | 1 | 2 | 123145 | 0.0000122 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.39 | 102 | 150 | 0.681 | 0.0000120 | 2300 |
| Missense in Polyphen | 28 | 62.137 | 0.45062 | 865 | ||
| Synonymous | 1.96 | 35 | 53.1 | 0.659 | 0.00000443 | 726 |
| Loss of Function | 2.75 | 2 | 12.5 | 0.160 | 0.00000104 | 188 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000773 | 0.0000629 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000742 | 0.0000556 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000124 | 0.00000893 |
| Middle Eastern | 0.0000742 | 0.0000556 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. May play a role in myotonic dystrophy pathophysiology (DM). Could inhibit terminal muscle differentiation, acting at approximately the time of myogenin induction. {ECO:0000269|PubMed:12297108, ECO:0000269|PubMed:15257297}.;
Recessive Scores
- pRec
- 0.101
Intolerance Scores
- loftool
- 0.129
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 35.42
Haploinsufficiency Scores
- pHI
- 0.171
- hipred
- Y
- hipred_score
- 0.591
- ghis
- 0.507
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.614
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Mbnl3
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); muscle phenotype;
Gene ontology
- Biological process
- regulation of alternative mRNA splicing, via spliceosome;regulation of transcription by RNA polymerase II;mRNA processing;multicellular organism development;RNA splicing;regulation of RNA splicing;negative regulation of myoblast differentiation
- Cellular component
- nucleus;nucleoplasm;cytoplasm
- Molecular function
- DNA-binding transcription factor activity, RNA polymerase II-specific;RNA binding;protein binding;metal ion binding