Incidental Mutation 'IGL03356:Nfe2l2'
ID |
419943 |
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: 0.885)
|
Stock # |
IGL03356
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
75505857-75534985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 75509544 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 92
(I92T)
|
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 benign
Transcript: ENSMUST00000102672
AA Change: I92T
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000099733 Gene: ENSMUSG00000015839 AA Change: I92T
Domain | Start | End | E-Value | Type |
PDB:3WN7|M
|
17 |
42 |
8e-10 |
PDB |
low complexity region
|
43 |
68 |
N/A |
INTRINSIC |
BRLZ
|
487 |
551 |
6.46e-9 |
SMART |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
A |
C |
15: 60,791,737 (GRCm39) |
M233R |
probably benign |
Het |
Aadat |
T |
C |
8: 60,984,725 (GRCm39) |
M256T |
probably damaging |
Het |
Adamts16 |
T |
C |
13: 70,901,410 (GRCm39) |
N889S |
probably benign |
Het |
Camkk2 |
A |
T |
5: 122,881,937 (GRCm39) |
I235N |
probably damaging |
Het |
Card6 |
C |
T |
15: 5,129,723 (GRCm39) |
A558T |
probably benign |
Het |
Ccdc175 |
T |
G |
12: 72,186,667 (GRCm39) |
|
probably null |
Het |
Crot |
A |
G |
5: 9,038,295 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
A |
G |
19: 39,628,405 (GRCm39) |
S180P |
probably damaging |
Het |
Ddx55 |
A |
G |
5: 124,692,816 (GRCm39) |
N81S |
possibly damaging |
Het |
Dennd3 |
C |
T |
15: 73,440,482 (GRCm39) |
T1171M |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
Dpp8 |
T |
A |
9: 64,953,069 (GRCm39) |
N248K |
probably benign |
Het |
Ganc |
T |
C |
2: 120,265,769 (GRCm39) |
I439T |
probably benign |
Het |
Gdpgp1 |
T |
C |
7: 79,888,443 (GRCm39) |
I158T |
possibly damaging |
Het |
Grm3 |
T |
C |
5: 9,562,206 (GRCm39) |
D548G |
possibly damaging |
Het |
H2-DMb1 |
T |
A |
17: 34,376,514 (GRCm39) |
|
probably benign |
Het |
Hecw2 |
A |
G |
1: 53,966,217 (GRCm39) |
|
probably benign |
Het |
Hs3st2 |
A |
G |
7: 120,992,389 (GRCm39) |
E113G |
probably damaging |
Het |
Hspa4 |
C |
A |
11: 53,160,627 (GRCm39) |
R483L |
probably damaging |
Het |
Ik |
C |
A |
18: 36,889,657 (GRCm39) |
S490R |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,072,035 (GRCm39) |
V86M |
possibly damaging |
Het |
Mfsd4b1 |
A |
C |
10: 39,878,827 (GRCm39) |
F357V |
probably damaging |
Het |
Ndufa9 |
A |
G |
6: 126,821,813 (GRCm39) |
V54A |
possibly damaging |
Het |
Oas1a |
A |
G |
5: 121,043,908 (GRCm39) |
S75P |
probably damaging |
Het |
Oca2 |
T |
G |
7: 56,185,716 (GRCm39) |
M814R |
probably benign |
Het |
Phlpp2 |
A |
G |
8: 110,662,249 (GRCm39) |
T879A |
probably benign |
Het |
Potefam3e |
A |
G |
8: 19,799,463 (GRCm39) |
I304V |
probably benign |
Het |
Rpe65 |
A |
T |
3: 159,321,214 (GRCm39) |
Y342F |
possibly damaging |
Het |
Satb2 |
T |
C |
1: 56,930,333 (GRCm39) |
K230R |
probably damaging |
Het |
Slc4a4 |
A |
G |
5: 89,270,342 (GRCm39) |
T297A |
probably benign |
Het |
Slpi |
T |
C |
2: 164,198,129 (GRCm39) |
T22A |
probably benign |
Het |
Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
Synj1 |
A |
G |
16: 90,784,280 (GRCm39) |
F286S |
probably damaging |
Het |
Tektl1 |
A |
G |
10: 78,582,966 (GRCm39) |
C473R |
possibly damaging |
Het |
Tigd2 |
T |
A |
6: 59,188,690 (GRCm39) |
I519K |
probably benign |
Het |
Tyr |
G |
T |
7: 87,141,922 (GRCm39) |
L136I |
possibly damaging |
Het |
Vmn1r34 |
A |
T |
6: 66,613,970 (GRCm39) |
M256K |
probably benign |
Het |
Zmym2 |
T |
A |
14: 57,194,517 (GRCm39) |
C1258* |
probably null |
Het |
|
Other mutations in Nfe2l2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00807:Nfe2l2
|
APN |
2 |
75,509,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00931:Nfe2l2
|
APN |
2 |
75,506,342 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02207:Nfe2l2
|
APN |
2 |
75,508,869 (GRCm39) |
missense |
probably damaging |
1.00 |
Scarlett
|
UTSW |
2 |
75,509,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R0582:Nfe2l2
|
UTSW |
2 |
75,507,112 (GRCm39) |
missense |
probably damaging |
1.00 |
R0782:Nfe2l2
|
UTSW |
2 |
75,507,177 (GRCm39) |
missense |
probably benign |
0.12 |
R1139:Nfe2l2
|
UTSW |
2 |
75,507,230 (GRCm39) |
missense |
probably benign |
0.00 |
R2237:Nfe2l2
|
UTSW |
2 |
75,506,898 (GRCm39) |
missense |
probably benign |
0.03 |
R2239:Nfe2l2
|
UTSW |
2 |
75,506,898 (GRCm39) |
missense |
probably benign |
0.03 |
R4365:Nfe2l2
|
UTSW |
2 |
75,509,772 (GRCm39) |
missense |
probably damaging |
1.00 |
R5240:Nfe2l2
|
UTSW |
2 |
75,506,353 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5328:Nfe2l2
|
UTSW |
2 |
75,507,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R5666:Nfe2l2
|
UTSW |
2 |
75,507,462 (GRCm39) |
missense |
probably benign |
0.01 |
R5670:Nfe2l2
|
UTSW |
2 |
75,507,462 (GRCm39) |
missense |
probably benign |
0.01 |
R6142:Nfe2l2
|
UTSW |
2 |
75,509,761 (GRCm39) |
missense |
probably damaging |
0.99 |
R6315:Nfe2l2
|
UTSW |
2 |
75,507,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R6520:Nfe2l2
|
UTSW |
2 |
75,506,912 (GRCm39) |
missense |
probably benign |
0.00 |
R7621:Nfe2l2
|
UTSW |
2 |
75,509,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R8110:Nfe2l2
|
UTSW |
2 |
75,509,765 (GRCm39) |
missense |
probably benign |
0.03 |
R9748:Nfe2l2
|
UTSW |
2 |
75,506,667 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Nfe2l2
|
UTSW |
2 |
75,509,508 (GRCm39) |
missense |
probably null |
0.68 |
Z1177:Nfe2l2
|
UTSW |
2 |
75,507,123 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2016-08-02 |