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Mutations

Mutations

Mutations

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...

In-vitro Mutagenesis

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

Mismatch Repair

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...

Mismatch Repair

Mismatch Repair

Spontaneous and Induced Mutations

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).

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Related Experiment Video

Updated: Nov 8, 2025

Development of Targeting Induced Local Lesions IN Genomes TILLING Populations in Small Grain Crops by Ethyl Methanesulfonate Mutagenesis

Development of Targeting Induced Local Lesions IN Genomes TILLING Populations in Small Grain Crops by Ethyl Methanesulfonate Mutagenesis

Published on: July 16, 2019

MutationTaster2021.

Robin Steinhaus^1,2, Sebastian Proft^1,2, Markus Schuelke^3,4

¹Berliner Institut für Gesundheitsforschung in der Charité - Universitätsmedizin Berlin, 10117 Berlin, Germany.

Nucleic Acids Research

|April 24, 2021

Summary

This summary is machine-generated.

MutationTaster2021 enhances DNA variant effect prediction with a new model, improving accuracy for rare variants. It now integrates disease information and offers user-friendly interfaces and an API for faster analysis.

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Development of Targeting Induced Local Lesions IN Genomes TILLING Populations in Small Grain Crops by Ethyl Methanesulfonate Mutagenesis

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The Lambda Select cII Mutation Detection System

The Lambda Select cII Mutation Detection System

Published on: April 26, 2018

Area of Science:

Genomics
Bioinformatics
Computational Biology

Background:

MutationTaster is a widely used tool for predicting the pathogenicity of DNA variants.
Previous versions had limitations in predicting rare benign variants and integrating clinical data.
Newer genomic datasets and prediction algorithms necessitate tool updates.

Purpose of the Study:

To present MutationTaster2021, an updated DNA variant effect prediction tool.
To improve prediction accuracy, especially for rare benign variants.
To enhance user-friendliness and integrate clinical phenotype information.

Main Methods:

Developed a new prediction model for DNA variant effects.
Integrated novel data sources like gnomAD and ExAC pLI scores.
Updated the splice site prediction model and incorporated the MutationDistiller search engine.

Main Results:

MutationTaster2021 demonstrates higher accuracy compared to its predecessor.
The tool now provides disease information linked to mutations for clinical relevance.
Processing of VCF files is accelerated, and user interfaces are improved.

Conclusions:

MutationTaster2021 offers a more accurate and user-friendly solution for variant effect prediction.
Integration with MutationDistiller aids in prioritizing variants based on clinical phenotype.
The updated tool is freely accessible online with an API for automated queries.