Incidental Mutation 'R0782:Nfe2l2'
| ID |
76669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfe2l2
|
| Ensembl Gene |
ENSMUSG00000015839 |
| Gene Name |
nuclear factor, erythroid derived 2, like 2 |
| Synonyms |
Nrf2 |
| MMRRC Submission |
038962-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.872)
|
| Stock # |
R0782 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
75505857-75534985 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 75507177 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 308
(I308V)
|
| 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: I308V
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000099733
Gene: ENSMUSG00000015839
AA Change: I308V
| 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 |
0.0913 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.3%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap23 |
C |
T |
11: 97,391,380 (GRCm39) |
P1299L |
possibly damaging |
Het |
| B3glct |
C |
T |
5: 149,650,275 (GRCm39) |
T126M |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,273 (GRCm39) |
D1492E |
probably damaging |
Het |
| Cdc14a |
A |
G |
3: 116,115,785 (GRCm39) |
I259T |
probably damaging |
Het |
| Cog7 |
C |
A |
7: 121,543,020 (GRCm39) |
A464S |
possibly damaging |
Het |
| Csf2rb2 |
C |
A |
15: 78,170,951 (GRCm39) |
K368N |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,200,199 (GRCm39) |
|
probably benign |
Het |
| Cyp2c37 |
A |
G |
19: 39,982,269 (GRCm39) |
H90R |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,264,807 (GRCm39) |
F314L |
possibly damaging |
Het |
| Dhx36 |
A |
T |
3: 62,414,135 (GRCm39) |
|
probably benign |
Het |
| Efr3b |
G |
A |
12: 4,034,686 (GRCm39) |
|
probably benign |
Het |
| Faap100 |
A |
G |
11: 120,267,530 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
A |
G |
1: 150,629,416 (GRCm39) |
I947T |
possibly damaging |
Het |
| Ilkap |
C |
T |
1: 91,306,272 (GRCm39) |
R103H |
probably damaging |
Het |
| Impa1 |
A |
T |
3: 10,387,956 (GRCm39) |
|
probably benign |
Het |
| Kbtbd8 |
C |
T |
6: 95,099,213 (GRCm39) |
R164C |
probably damaging |
Het |
| Lactb2 |
T |
G |
1: 13,717,675 (GRCm39) |
N116T |
probably benign |
Het |
| Myh8 |
T |
A |
11: 67,180,580 (GRCm39) |
N605K |
probably benign |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Napa |
T |
C |
7: 15,849,192 (GRCm39) |
M244T |
probably benign |
Het |
| Nckap5 |
G |
A |
1: 125,909,278 (GRCm39) |
S1719F |
probably damaging |
Het |
| Or51af1 |
C |
A |
7: 103,141,722 (GRCm39) |
R121L |
probably damaging |
Het |
| Ppfia2 |
C |
T |
10: 106,763,592 (GRCm39) |
S1195L |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,133,386 (GRCm39) |
K615R |
possibly damaging |
Het |
| Rnf216 |
T |
C |
5: 143,054,647 (GRCm39) |
K634E |
possibly damaging |
Het |
| Samd3 |
A |
G |
10: 26,146,138 (GRCm39) |
T388A |
probably damaging |
Het |
| Serping1 |
G |
A |
2: 84,597,790 (GRCm39) |
P364S |
probably damaging |
Het |
| Slc39a10 |
T |
C |
1: 46,875,156 (GRCm39) |
S49G |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,469,799 (GRCm39) |
T762K |
probably benign |
Het |
| Smpd1 |
T |
A |
7: 105,204,550 (GRCm39) |
V143E |
possibly damaging |
Het |
| Synj2bp |
A |
T |
12: 81,579,507 (GRCm39) |
L16Q |
probably damaging |
Het |
| Tcof1 |
G |
A |
18: 60,949,352 (GRCm39) |
R1188W |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,661,740 (GRCm39) |
R1722G |
possibly damaging |
Het |
| Vamp5 |
T |
C |
6: 72,346,453 (GRCm39) |
S48G |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,853,195 (GRCm39) |
|
probably benign |
Het |
| Zfp292 |
T |
C |
4: 34,839,382 (GRCm39) |
N161S |
possibly damaging |
Het |
| Zfp831 |
A |
G |
2: 174,488,423 (GRCm39) |
T1033A |
probably benign |
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 |
|
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'- AGGGCCGTTCTGTTTGACACTTC -3'
(R):5'- ATCCTCTCCACTGATGATGCCAGC -3'
Sequencing Primer
(F):5'- TTTGACACTTCCAGGGGCAC -3'
(R):5'- CTTTCATAGCAGAGCCCAGT -3'
|
| Posted On |
2013-10-16 |
Incidental Mutation