MIEF2
Basic information
Region (hg38): 17:18260597-18266552
Previous symbols: [ "SMCR7" ]
Links
Phenotypes
GenCC
Source:
- combined oxidative phosphorylation deficiency 49 (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Combined oxidative phosphorylation deficiency 49 | AR | Biochemical | The condition has been described as involving muscle weakness and pain, and medical management (eg, with riboflavin and coenzyme Q10) has been described as beneficial | Biochemical; Musculoskeletal | 29361167 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (105 variants)
- not_provided (7 variants)
- Combined_oxidative_phosphorylation_deficiency_49 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIEF2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000139162.4. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 15 | 15 | ||||
missense | 89 | 93 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 1 | 0 | 89 | 19 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
MIEF2 | protein_coding | protein_coding | ENST00000395706 | 4 | 6019 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0160 | 0.962 | 124881 | 0 | 9 | 124890 | 0.0000360 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.513 | 269 | 294 | 0.916 | 0.0000201 | 2909 |
Missense in Polyphen | 75 | 93.85 | 0.79915 | 1068 | ||
Synonymous | 0.574 | 130 | 139 | 0.938 | 0.00000963 | 1070 |
Loss of Function | 1.99 | 5 | 12.7 | 0.395 | 6.29e-7 | 128 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000289 | 0.0000289 |
Ashkenazi Jewish | 0.000100 | 0.0000994 |
East Asian | 0.000110 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000274 | 0.0000265 |
Middle Eastern | 0.000110 | 0.000109 |
South Asian | 0.0000677 | 0.0000653 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity. {ECO:0000269|PubMed:21508961, ECO:0000269|PubMed:23283981, ECO:0000269|PubMed:23530241, ECO:0000269|PubMed:23921378}.;
Recessive Scores
- pRec
- 0.107
Intolerance Scores
- loftool
- rvis_EVS
- -0.53
- rvis_percentile_EVS
- 20.78
Haploinsufficiency Scores
- pHI
- 0.0960
- hipred
- N
- hipred_score
- 0.242
- ghis
- 0.528
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- 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
- Mief2
- Phenotype
Gene ontology
- Biological process
- mitochondrion organization;mitochondrial fusion;positive regulation of protein homooligomerization;positive regulation of mitochondrial fission;positive regulation of protein targeting to membrane
- Cellular component
- mitochondrion;mitochondrial outer membrane;peroxisome;integral component of membrane
- Molecular function
- protein binding;identical protein binding