Incidental Mutation 'R9071:Nfe2l3'
| ID |
689533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfe2l3
|
| Ensembl Gene |
ENSMUSG00000029832 |
| Gene Name |
nuclear factor, erythroid derived 2, like 3 |
| Synonyms |
Nrf3 |
| MMRRC Submission |
068893-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9071 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
51409650-51435748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 51434243 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 268
(S268R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005103]
[ENSMUST00000069949]
[ENSMUST00000090002]
[ENSMUST00000160133]
[ENSMUST00000203954]
[ENSMUST00000204158]
|
| AlphaFold |
Q9WTM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000005103
AA Change: S268R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000005103
Gene: ENSMUSG00000029832
AA Change: S268R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
390 |
405 |
N/A |
INTRINSIC |
|
BRLZ
|
539 |
603 |
3.68e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069949
|
| SMART Domains |
Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
10 |
82 |
1.51e-23 |
SMART |
|
RRM
|
101 |
173 |
7.64e-20 |
SMART |
|
Pfam:HnRNPA1
|
245 |
282 |
5.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000090002
|
| SMART Domains |
Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
10 |
82 |
1.51e-23 |
SMART |
|
RRM
|
101 |
173 |
7.64e-20 |
SMART |
|
low complexity region
|
186 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160133
|
| SMART Domains |
Protein: ENSMUSP00000124920
Gene: ENSMUSG00000029832
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
7 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
117 |
134 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
155 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203954
|
| SMART Domains |
Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
22 |
94 |
1.51e-23 |
SMART |
|
RRM
|
113 |
185 |
7.64e-20 |
SMART |
|
low complexity region
|
198 |
307 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
353 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204158
|
| SMART Domains |
Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
10 |
82 |
1.51e-23 |
SMART |
|
RRM
|
101 |
173 |
7.64e-20 |
SMART |
|
Pfam:HnRNPA1
|
245 |
282 |
9.5e-19 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
G |
T |
7: 41,274,783 (GRCm39) |
R162L |
probably benign |
Het |
| Alpi |
A |
G |
1: 87,026,584 (GRCm39) |
V469A |
probably damaging |
Het |
| Amotl2 |
G |
T |
9: 102,595,892 (GRCm39) |
|
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,625,418 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
G |
T |
1: 87,683,907 (GRCm39) |
|
probably benign |
Het |
| Atg2b |
C |
A |
12: 105,625,099 (GRCm39) |
E626* |
probably null |
Het |
| B3galt9 |
T |
C |
2: 34,728,435 (GRCm39) |
V78A |
probably benign |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Ccdc162 |
G |
A |
10: 41,457,174 (GRCm39) |
Q1588* |
probably null |
Het |
| Cd3d |
A |
T |
9: 44,896,340 (GRCm39) |
H43L |
probably benign |
Het |
| Cenpk |
C |
T |
13: 104,378,870 (GRCm39) |
Q164* |
probably null |
Het |
| Clybl |
C |
A |
14: 122,608,697 (GRCm39) |
D96E |
probably benign |
Het |
| Cog1 |
T |
C |
11: 113,546,939 (GRCm39) |
V511A |
probably damaging |
Het |
| Crhr1 |
T |
A |
11: 104,064,133 (GRCm39) |
I282N |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,818,542 (GRCm39) |
N1433D |
probably damaging |
Het |
| Cspp1 |
A |
T |
1: 10,159,121 (GRCm39) |
I516F |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,837,379 (GRCm39) |
T1030A |
probably benign |
Het |
| Cyp2d10 |
T |
C |
15: 82,288,361 (GRCm39) |
T313A |
probably damaging |
Het |
| Ddx11 |
T |
A |
17: 66,450,736 (GRCm39) |
N549K |
probably damaging |
Het |
| Ddx41 |
A |
G |
13: 55,680,219 (GRCm39) |
V391A |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,751,634 (GRCm39) |
D1227G |
unknown |
Het |
| Fam83f |
T |
C |
15: 80,576,206 (GRCm39) |
Y286H |
probably damaging |
Het |
| Fasn |
T |
C |
11: 120,708,324 (GRCm39) |
D647G |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,037,598 (GRCm39) |
V3750A |
probably benign |
Het |
| Golga2 |
T |
C |
2: 32,178,364 (GRCm39) |
S14P |
probably damaging |
Het |
| Hgsnat |
A |
G |
8: 26,436,302 (GRCm39) |
V584A |
possibly damaging |
Het |
| Ifi207 |
A |
T |
1: 173,557,764 (GRCm39) |
F325I |
unknown |
Het |
| Igfals |
A |
T |
17: 25,099,670 (GRCm39) |
I254F |
probably damaging |
Het |
| Matr3 |
T |
C |
18: 35,705,803 (GRCm39) |
Y243H |
possibly damaging |
Het |
| Mki67 |
G |
C |
7: 135,301,205 (GRCm39) |
D1276E |
probably benign |
Het |
| Moap1 |
T |
A |
12: 102,709,364 (GRCm39) |
K62* |
probably null |
Het |
| Msto1 |
C |
A |
3: 88,812,414 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,448,420 (GRCm39) |
D697V |
possibly damaging |
Het |
| Nampt |
T |
A |
12: 32,892,781 (GRCm39) |
V356E |
probably damaging |
Het |
| Nell2 |
T |
A |
15: 95,244,682 (GRCm39) |
K472* |
probably null |
Het |
| Or8b43 |
T |
C |
9: 38,361,032 (GRCm39) |
I288T |
possibly damaging |
Het |
| Osbpl10 |
G |
T |
9: 114,890,908 (GRCm39) |
V99L |
probably benign |
Het |
| Plod2 |
A |
G |
9: 92,485,048 (GRCm39) |
I537M |
probably benign |
Het |
| Prdm4 |
A |
G |
10: 85,729,076 (GRCm39) |
L770P |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| Scaper |
T |
C |
9: 55,771,803 (GRCm39) |
D371G |
probably benign |
Het |
| Sema3e |
A |
G |
5: 14,282,154 (GRCm39) |
K430R |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,573,603 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
T |
6: 142,196,052 (GRCm39) |
I317N |
possibly damaging |
Het |
| Spata4 |
T |
G |
8: 55,055,742 (GRCm39) |
F211C |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,433,982 (GRCm39) |
E929G |
probably benign |
Het |
| Sult1e1 |
A |
C |
5: 87,735,681 (GRCm39) |
|
probably benign |
Het |
| Tas2r125 |
A |
T |
6: 132,887,400 (GRCm39) |
N263Y |
probably benign |
Het |
| Ugt3a1 |
T |
A |
15: 9,370,224 (GRCm39) |
L456* |
probably null |
Het |
| Wdr20rt |
G |
A |
12: 65,274,222 (GRCm39) |
V562I |
probably benign |
Het |
| Zc3h7b |
T |
C |
15: 81,677,964 (GRCm39) |
*983Q |
probably null |
Het |
| Zfp28 |
T |
A |
7: 6,397,544 (GRCm39) |
C660S |
probably damaging |
Het |
|
| Other mutations in Nfe2l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02705:Nfe2l3
|
APN |
6 |
51,410,098 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02803:Nfe2l3
|
APN |
6 |
51,434,291 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0277:Nfe2l3
|
UTSW |
6 |
51,434,448 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0693:Nfe2l3
|
UTSW |
6 |
51,410,034 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1397:Nfe2l3
|
UTSW |
6 |
51,410,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1455:Nfe2l3
|
UTSW |
6 |
51,434,744 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1541:Nfe2l3
|
UTSW |
6 |
51,434,585 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1753:Nfe2l3
|
UTSW |
6 |
51,410,392 (GRCm39) |
missense |
probably null |
0.96 |
|
R1946:Nfe2l3
|
UTSW |
6 |
51,434,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Nfe2l3
|
UTSW |
6 |
51,435,350 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3807:Nfe2l3
|
UTSW |
6 |
51,434,357 (GRCm39) |
nonsense |
probably null |
|
|
R3932:Nfe2l3
|
UTSW |
6 |
51,433,595 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4271:Nfe2l3
|
UTSW |
6 |
51,433,614 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4604:Nfe2l3
|
UTSW |
6 |
51,427,992 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4816:Nfe2l3
|
UTSW |
6 |
51,433,604 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5765:Nfe2l3
|
UTSW |
6 |
51,434,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5893:Nfe2l3
|
UTSW |
6 |
51,434,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Nfe2l3
|
UTSW |
6 |
51,434,276 (GRCm39) |
nonsense |
probably null |
|
|
R7490:Nfe2l3
|
UTSW |
6 |
51,434,524 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R7624:Nfe2l3
|
UTSW |
6 |
51,435,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8210:Nfe2l3
|
UTSW |
6 |
51,428,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8678:Nfe2l3
|
UTSW |
6 |
51,435,153 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R9146:Nfe2l3
|
UTSW |
6 |
51,410,172 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9625:Nfe2l3
|
UTSW |
6 |
51,434,925 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Nfe2l3
|
UTSW |
6 |
51,410,277 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCCTTCACAATGTGGGC -3'
(R):5'- GACATTGCAGGAGTGGCTTG -3'
Sequencing Primer
(F):5'- GACCCTTCACAATGTGGGCTTTAG -3'
(R):5'- CAGGAGTGGCTTGCTCAG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation