Incidental Mutation 'R0582:Nfe2l2'
ID |
56452 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfe2l2
|
Ensembl Gene |
ENSMUSG00000015839 |
Gene Name |
nuclear factor, erythroid derived 2, like 2 |
Synonyms |
Nrf2 |
MMRRC Submission |
038772-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.872)
|
Stock # |
R0582 (G1)
|
Quality Score |
191 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
75505857-75534985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 75507112 bp (GRCm39)
|
Zygosity |
Heterozygous |
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]
|
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: E329D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099733 Gene: ENSMUSG00000015839 AA Change: E329D
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 |
|
Meta Mutation Damage Score |
0.0641 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.4%
- 20x: 94.6%
|
Validation Efficiency |
100% (45/45) |
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
A |
T |
12: 118,904,147 (GRCm39) |
M186K |
probably benign |
Het |
Afm |
T |
C |
5: 90,672,639 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
G |
A |
10: 18,487,038 (GRCm39) |
A1332V |
probably damaging |
Het |
Atp11a |
T |
C |
8: 12,881,214 (GRCm39) |
S451P |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,950,332 (GRCm39) |
V3189E |
probably damaging |
Het |
Ccdc150 |
C |
T |
1: 54,368,670 (GRCm39) |
A626V |
probably benign |
Het |
Ccdc50 |
G |
A |
16: 27,263,409 (GRCm39) |
|
probably benign |
Het |
Cntln |
T |
C |
4: 84,802,978 (GRCm39) |
S93P |
probably damaging |
Het |
Ctnna2 |
C |
A |
6: 77,735,400 (GRCm39) |
V106L |
probably benign |
Het |
Ctnnal1 |
G |
C |
4: 56,813,228 (GRCm39) |
Q668E |
probably damaging |
Het |
Cyp1a2 |
G |
A |
9: 57,587,529 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
A |
G |
17: 30,937,935 (GRCm39) |
D1604G |
probably benign |
Het |
Dscaml1 |
A |
T |
9: 45,579,562 (GRCm39) |
I370F |
possibly damaging |
Het |
Duxf4 |
A |
T |
10: 58,071,508 (GRCm39) |
S235R |
probably benign |
Het |
Ears2 |
T |
C |
7: 121,654,881 (GRCm39) |
E129G |
probably benign |
Het |
Igsf10 |
T |
C |
3: 59,227,188 (GRCm39) |
I2162V |
probably benign |
Het |
Ints9 |
C |
T |
14: 65,217,598 (GRCm39) |
P42S |
probably damaging |
Het |
Ipp |
T |
C |
4: 116,372,664 (GRCm39) |
L231S |
probably damaging |
Het |
Lyn |
T |
A |
4: 3,743,296 (GRCm39) |
L72Q |
probably damaging |
Het |
Or2h2c |
G |
C |
17: 37,422,347 (GRCm39) |
L176V |
probably benign |
Het |
Or52a24 |
G |
A |
7: 103,381,880 (GRCm39) |
C249Y |
possibly damaging |
Het |
Pdyn |
A |
C |
2: 129,531,658 (GRCm39) |
L44R |
probably damaging |
Het |
Pkd1l1 |
A |
G |
11: 8,881,699 (GRCm39) |
|
probably benign |
Het |
Prpf40a |
A |
T |
2: 53,035,704 (GRCm39) |
F695L |
probably damaging |
Het |
Rnf217 |
A |
G |
10: 31,484,763 (GRCm39) |
Y140H |
possibly damaging |
Het |
Sema6c |
C |
T |
3: 95,076,508 (GRCm39) |
R265C |
probably damaging |
Het |
Slc7a8 |
C |
A |
14: 54,995,901 (GRCm39) |
C167F |
probably damaging |
Het |
Snap47 |
A |
T |
11: 59,319,259 (GRCm39) |
L293* |
probably null |
Het |
Snx3 |
A |
T |
10: 42,409,276 (GRCm39) |
|
probably benign |
Het |
Sycp2l |
T |
A |
13: 41,291,431 (GRCm39) |
|
probably benign |
Het |
Taar3 |
A |
G |
10: 23,825,715 (GRCm39) |
Y87C |
probably damaging |
Het |
Tm4sf4 |
T |
C |
3: 57,341,278 (GRCm39) |
|
probably benign |
Het |
Tssc4 |
T |
C |
7: 142,624,246 (GRCm39) |
S185P |
probably damaging |
Het |
Ttc28 |
G |
T |
5: 111,331,162 (GRCm39) |
A430S |
probably damaging |
Het |
Ulbp3 |
G |
A |
10: 3,075,082 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r27 |
T |
C |
6: 124,201,249 (GRCm39) |
D236G |
probably benign |
Het |
Vps54 |
G |
T |
11: 21,250,137 (GRCm39) |
D508Y |
probably damaging |
Het |
Wdr53 |
G |
A |
16: 32,070,726 (GRCm39) |
V24M |
probably damaging |
Het |
Xirp2 |
T |
G |
2: 67,339,210 (GRCm39) |
L484V |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,292,996 (GRCm39) |
D2051G |
probably damaging |
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 |
IGL03356:Nfe2l2
|
APN |
2 |
75,509,544 (GRCm39) |
missense |
probably benign |
0.00 |
Scarlett
|
UTSW |
2 |
75,509,757 (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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGATGACCAGGACTCACGGGAAC -3'
(R):5'- CTTTCATAGCAGAGCCCAGTGACG -3'
Sequencing Primer
(F):5'- CACATTGGGATTCACGCATAG -3'
(R):5'- CCCAGTGACGGTGGCAG -3'
|
Posted On |
2013-07-11 |