MIS12

MIS12 kinetochore complex component, the group of MIS12 kinetochore complex

Basic information

Region (hg38): 17:5486285-5490814

Links

ENSG00000167842NCBI:79003OMIM:609178HGNC:24967Uniprot:Q9H081AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MIS12 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MIS12 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
9
clinvar
9
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 9 0 0

Variants in MIS12

This is a list of pathogenic ClinVar variants found in the MIS12 region.

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

Position Type Phenotype Significance ClinVar
17-5488885-A-G not specified Uncertain significance (Aug 16, 2021)2245336
17-5488930-G-A not specified Uncertain significance (Apr 12, 2023)2525628
17-5488940-T-G not specified Uncertain significance (Oct 17, 2023)3126712
17-5489018-C-G not specified Uncertain significance (Oct 05, 2021)2402122
17-5489080-G-T not specified Uncertain significance (Feb 03, 2022)2275993
17-5489137-G-A not specified Uncertain significance (Aug 13, 2021)2244535
17-5489149-A-T not specified Uncertain significance (Aug 08, 2023)2589687
17-5489248-A-C not specified Uncertain significance (Jun 19, 2024)3294941
17-5489310-G-T not specified Uncertain significance (Feb 08, 2023)2464887
17-5489323-A-G not specified Uncertain significance (Sep 16, 2021)2250404
17-5489344-A-T not specified Uncertain significance (Apr 08, 2024)3294940

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MIS12protein_codingprotein_codingENST00000381165 14530
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.1470.785125737091257460.0000358
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.645901090.8260.000005721374
Missense in Polyphen1737.0570.45875462
Synonymous-1.545542.31.300.00000236362
Loss of Function1.4825.880.3402.49e-779

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001230.000123
Ashkenazi Jewish0.00009930.0000992
East Asian0.0002720.000272
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.0002720.000272
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Part of the MIS12 complex which is required for normal chromosome alignment and segregation and for kinetochore formation during mitosis (PubMed:12515822, PubMed:15502821, PubMed:16585270). Essential for proper kinetochore microtubule attachments (PubMed:23891108). {ECO:0000269|PubMed:12515822, ECO:0000269|PubMed:15502821, ECO:0000269|PubMed:16585270, ECO:0000269|PubMed:23891108}.;
Pathway
Signal Transduction;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;RHO GTPases Activate Formins;RHO GTPase Effectors;Signaling by Rho GTPases;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic (Consensus)

Intolerance Scores

loftool
0.427
rvis_EVS
-0.12
rvis_percentile_EVS
44.89

Haploinsufficiency Scores

pHI
0.344
hipred
Y
hipred_score
0.583
ghis
0.612

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.876

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Mis12
Phenotype

Gene ontology

Biological process
mitotic sister chromatid segregation;chromosome segregation;protein localization to kinetochore;cell division;attachment of mitotic spindle microtubules to kinetochore;kinetochore assembly
Cellular component
MIS12/MIND type complex;condensed chromosome kinetochore;nuclear MIS12/MIND complex;nucleus;cytosol
Molecular function
protein binding