|Institutional Source||Beutler Lab|
|Gene Name||nuclear factor, erythroid derived 2, like 2|
|Is this an essential gene?||Probably essential (E-score: 0.879)|
|Stock #||R0582 (G1)|
|Chromosomal Location||75675513-75704641 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 75676768 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 329 (E329D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099733 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102672]|
Structural basis for the defects of human lung cancer somatic mutations in the repression activity of Keap1 on Nrf2 [X-RAY DIFFRACTION]
Crystal structure of the Keap1 protein in complexed with the N-terminal region of the Nrf2 transcription factor [X-RAY DIFFRACTION]
Crystal Structure of Keap1 in Complex with the N-terminal region of the Nrf2 transcription factor [X-RAY DIFFRACTION]
|Predicted Effect||probably damaging
AA Change: E329D
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: E329D
|Meta Mutation Damage Score||0.0641|
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
FUNCTION: This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in a variety of organs and cells including brain, liver, erythrocytes, and spleen, abnormal tooth enamel, and abnormal response to various injuries, chemical treatments, and induced inflammatory diseases. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Nfe2l2||
(F):5'- TTGATGACCAGGACTCACGGGAAC -3'
(R):5'- CTTTCATAGCAGAGCCCAGTGACG -3'
(F):5'- CACATTGGGATTCACGCATAG -3'
(R):5'- CCCAGTGACGGTGGCAG -3'