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MRPS12

mitochondrial ribosomal protein S12, the group of Small subunit mitochondrial ribosomal proteins|Mitochondrial ribosomal proteins

Basic information

Region (hg38): 19:38930943-38933168

Previous symbols: [ "RPMS12" ]

Links

ENSG00000128626NCBI:6183OMIM:603021HGNC:10380Uniprot:O15235AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MRPS12 gene.

  • Inborn genetic diseases (6 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MRPS12 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
clinvar
1
missense
6
clinvar
6
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 6 1 0

Variants in MRPS12

This is a list of pathogenic ClinVar variants found in the MRPS12 region.

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

Position Type Phenotype Significance ClinVar
19-38932339-C-T not specified Uncertain significance (Apr 28, 2023)2541765
19-38932407-C-T not specified Uncertain significance (May 31, 2023)2553782
19-38932418-G-A Likely benign (Mar 01, 2023)2649828
19-38932422-C-T not specified Uncertain significance (Sep 06, 2022)2364603
19-38932427-G-T not specified Uncertain significance (Nov 17, 2022)2326313
19-38932476-A-G not specified Uncertain significance (Apr 07, 2022)2394471
19-38932548-C-T not specified Uncertain significance (Jul 16, 2021)2377069
19-38932549-G-A not specified Uncertain significance (Nov 09, 2023)3208602
19-38932618-G-A not specified Uncertain significance (Oct 02, 2023)3208604
19-38932695-A-G not specified Uncertain significance (Mar 07, 2024)3208608

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MRPS12protein_codingprotein_codingENST00000407800 22615
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0002040.3021257120141257260.0000557
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4208697.70.8800.00000715862
Missense in Polyphen2639.6840.65517408
Synonymous-0.8504841.11.170.00000264313
Loss of Function-0.42354.081.232.39e-742

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001550.000150
Ashkenazi Jewish0.0001990.000198
East Asian0.0001100.000109
Finnish0.000.00
European (Non-Finnish)0.00004440.0000440
Middle Eastern0.0001100.000109
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
Ribosome - Homo sapiens (human);Mitochondrial translation initiation;Translation;Metabolism of proteins;Mitochondrial translation elongation;Mitochondrial translation termination;Mitochondrial translation (Consensus)

Recessive Scores

pRec
0.175

Intolerance Scores

loftool
0.734
rvis_EVS
-0.14
rvis_percentile_EVS
43.29

Haploinsufficiency Scores

pHI
0.319
hipred
Y
hipred_score
0.612
ghis
0.594

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.994

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mrps12
Phenotype

Gene ontology

Biological process
translation;mitochondrial translation;mitochondrial translational elongation;mitochondrial translational termination
Cellular component
mitochondrial inner membrane;mitochondrial ribosome;mitochondrial small ribosomal subunit
Molecular function
RNA binding;structural constituent of ribosome;protein binding