Incidental Mutation 'IGL00807:Nfe2l2'
ID 12342
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfe2l2
Ensembl Gene ENSMUSG00000015839
Gene Name nuclear factor, erythroid derived 2, like 2
Synonyms Nrf2
Accession Numbers
Essential gene? Probably essential (E-score: 0.841) question?
Stock # IGL00807
Quality Score
Chromosome 2
Chromosomal Location 75675513-75704641 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 75679413 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 21 (D21G)
Ref Sequence ENSEMBL: ENSMUSP00000099733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102672]
AlphaFold Q60795
PDB Structure 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
Transcript: ENSMUST00000102672
AA Change: D21G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099733
Gene: ENSMUSG00000015839
AA Change: D21G

PDB:3WN7|M 17 42 8e-10 PDB
low complexity region 43 68 N/A INTRINSIC
BRLZ 487 551 6.46e-9 SMART
Meta Mutation Damage Score 0.5937 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,378,285 T3453S probably benign Het
Ahnak T A 19: 9,008,522 V2390E possibly damaging Het
Aldh8a1 A T 10: 21,395,430 I352F probably damaging Het
Ccnt2 T C 1: 127,797,891 probably benign Het
Ccr1l1 A T 9: 123,977,469 W314R probably benign Het
Cdc42bpa A G 1: 180,141,453 I1218V possibly damaging Het
Dlc1 G A 8: 36,572,848 T1386I probably benign Het
Frs2 A C 10: 117,074,886 probably benign Het
Gm4951 C T 18: 60,245,411 S6F probably damaging Het
Gria1 T C 11: 57,012,040 Y3H probably benign Het
Ints2 T C 11: 86,233,135 N609S probably damaging Het
Lyst T A 13: 13,650,423 M1541K possibly damaging Het
Mmachc A T 4: 116,705,921 V79E probably damaging Het
Pde2a G A 7: 101,504,412 V436M probably damaging Het
Rhot1 C T 11: 80,226,102 H101Y probably benign Het
Sh2d4a T C 8: 68,329,366 probably null Het
Taar2 A G 10: 23,940,675 M38V probably benign Het
Tek A T 4: 94,798,719 N158I probably damaging Het
Znrd1as G T 17: 36,964,921 A132S probably damaging Het
Other mutations in Nfe2l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Nfe2l2 APN 2 75675998 missense probably damaging 1.00
IGL02207:Nfe2l2 APN 2 75678525 missense probably damaging 1.00
IGL03356:Nfe2l2 APN 2 75679200 missense probably benign 0.00
Scarlett UTSW 2 75679413 missense probably damaging 1.00
R0582:Nfe2l2 UTSW 2 75676768 missense probably damaging 1.00
R0782:Nfe2l2 UTSW 2 75676833 missense probably benign 0.12
R1139:Nfe2l2 UTSW 2 75676886 missense probably benign 0.00
R2237:Nfe2l2 UTSW 2 75676554 missense probably benign 0.03
R2239:Nfe2l2 UTSW 2 75676554 missense probably benign 0.03
R4365:Nfe2l2 UTSW 2 75679428 missense probably damaging 1.00
R5240:Nfe2l2 UTSW 2 75676009 missense possibly damaging 0.63
R5328:Nfe2l2 UTSW 2 75676856 missense probably damaging 1.00
R5666:Nfe2l2 UTSW 2 75677118 missense probably benign 0.01
R5670:Nfe2l2 UTSW 2 75677118 missense probably benign 0.01
R6142:Nfe2l2 UTSW 2 75679417 missense probably damaging 0.99
R6315:Nfe2l2 UTSW 2 75676819 missense probably damaging 1.00
R6520:Nfe2l2 UTSW 2 75676568 missense probably benign 0.00
R7621:Nfe2l2 UTSW 2 75679413 missense probably damaging 1.00
R8110:Nfe2l2 UTSW 2 75679421 missense probably benign 0.03
R9748:Nfe2l2 UTSW 2 75676323 missense probably damaging 1.00
Z1176:Nfe2l2 UTSW 2 75679164 missense probably null 0.68
Z1177:Nfe2l2 UTSW 2 75676779 missense possibly damaging 0.92
Posted On 2012-12-06