Incidental Mutation 'R4365:Nfe2l2'
ID |
500592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfe2l2
|
Ensembl Gene |
ENSMUSG00000015839 |
Gene Name |
nuclear factor, erythroid derived 2, like 2 |
Synonyms |
Nrf2 |
MMRRC Submission |
041113-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.885)
|
Stock # |
R4365 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
75505857-75534985 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 75509772 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 16
(D16G)
|
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: D16G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099733 Gene: ENSMUSG00000015839 AA Change: D16G
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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apob |
A |
T |
12: 8,066,083 (GRCm39) |
I4318F |
possibly damaging |
Het |
Btrc |
G |
A |
19: 45,501,919 (GRCm39) |
D213N |
probably damaging |
Het |
C4b |
T |
A |
17: 34,953,717 (GRCm39) |
I964F |
possibly damaging |
Het |
Cacna1f |
G |
T |
X: 7,476,213 (GRCm39) |
A123S |
probably damaging |
Het |
Ccdc153 |
G |
A |
9: 44,154,889 (GRCm39) |
A71T |
probably damaging |
Het |
Celsr3 |
C |
A |
9: 108,707,046 (GRCm39) |
D1176E |
possibly damaging |
Het |
Cfap46 |
A |
C |
7: 139,230,868 (GRCm39) |
V920G |
probably damaging |
Het |
Cnot10 |
T |
A |
9: 114,460,949 (GRCm39) |
K74* |
probably null |
Het |
Dnajb12 |
T |
C |
10: 59,715,588 (GRCm39) |
F30S |
probably damaging |
Het |
Emilin3 |
T |
C |
2: 160,750,406 (GRCm39) |
R401G |
probably benign |
Het |
F5 |
A |
G |
1: 164,012,519 (GRCm39) |
T478A |
probably damaging |
Het |
Hspa4l |
C |
A |
3: 40,721,241 (GRCm39) |
|
probably null |
Het |
Il1rl2 |
G |
T |
1: 40,390,951 (GRCm39) |
R298L |
probably benign |
Het |
Lipo2 |
A |
T |
19: 33,699,108 (GRCm39) |
S307R |
probably damaging |
Het |
Lrit2 |
T |
A |
14: 36,794,076 (GRCm39) |
L380Q |
probably damaging |
Het |
Ncan |
A |
G |
8: 70,567,861 (GRCm39) |
S84P |
probably damaging |
Het |
Ncoa2 |
T |
C |
1: 13,250,771 (GRCm39) |
I304V |
probably damaging |
Het |
Nt5dc1 |
T |
C |
10: 34,186,377 (GRCm39) |
D397G |
probably benign |
Het |
Obsl1 |
A |
C |
1: 75,464,693 (GRCm39) |
L1576R |
possibly damaging |
Het |
Or5p1 |
A |
T |
7: 107,916,313 (GRCm39) |
I71F |
probably benign |
Het |
Or5v1 |
T |
C |
17: 37,810,270 (GRCm39) |
S243P |
probably damaging |
Het |
Or6c212 |
A |
G |
10: 129,559,281 (GRCm39) |
I44T |
probably damaging |
Het |
Pcdh17 |
A |
G |
14: 84,685,726 (GRCm39) |
E731G |
probably damaging |
Het |
Rag1 |
T |
A |
2: 101,473,288 (GRCm39) |
K618M |
probably damaging |
Het |
Ripor2 |
C |
T |
13: 24,905,694 (GRCm39) |
P947S |
probably benign |
Het |
Rnf150 |
A |
G |
8: 83,590,744 (GRCm39) |
K36E |
probably benign |
Het |
S100a9 |
T |
C |
3: 90,600,081 (GRCm39) |
H105R |
unknown |
Het |
Spindoc |
T |
C |
19: 7,351,219 (GRCm39) |
D246G |
possibly damaging |
Het |
St8sia4 |
A |
T |
1: 95,519,517 (GRCm39) |
Y324N |
possibly damaging |
Het |
Tlr11 |
T |
A |
14: 50,598,926 (GRCm39) |
I304N |
probably damaging |
Het |
Trpm3 |
A |
G |
19: 22,955,694 (GRCm39) |
T1090A |
probably benign |
Het |
Ube4a |
T |
C |
9: 44,871,379 (GRCm39) |
N7D |
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 |
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 |
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'- GGCTGAATTGGGAGGAATTCTC -3'
(R):5'- CGAATGGGTAGCTAGATCTTGTTGC -3'
Sequencing Primer
(F):5'- CCTGTTTCTTCATCCAGTTGAAAC -3'
(R):5'- AGCTAGATCTTGTTGCTTTTAGC -3'
|
Posted On |
2017-12-01 |