|Institutional Source||Beutler Lab|
|Synonyms||Cas1, Cas-1, Cs-1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||PIT4696001 (G1)|
|Chromosomal Location||103453849-103485160 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 103471812 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 180 (D180G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028610 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028610] [ENSMUST00000111168]|
|Predicted Effect||probably damaging
AA Change: D180G
PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
AA Change: D180G
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes catalase, a key antioxidant enzyme in the bodies defense against oxidative stress. Catalase is a heme enzyme that is present in the peroxisome of nearly all aerobic cells. Catalase converts the reactive oxygen species hydrogen peroxide to water and oxygen and thereby mitigates the toxic effects of hydrogen peroxide. Oxidative stress is hypothesized to play a role in the development of many chronic or late-onset diseases such as diabetes, asthma, Alzheimer's disease, systemic lupus erythematosus, rheumatoid arthritis, and cancers. Polymorphisms in this gene have been associated with decreases in catalase activity but, to date, acatalasemia is the only disease known to be caused by this gene. [provided by RefSeq, Oct 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a generally normal phenotype although subtle abnormalities do occur in mitochondrial respiration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cat||
(F):5'- CCAACCATCTAAGCATCATGTTAGATG -3'
(R):5'- GCTCTGAGTGCATTTGACAC -3'
(F):5'- GCATCATGTTAGATGTAAACTCTTTG -3'
(R):5'- CCAAAGATGGTTGTATGTACTGAAC -3'