Incidental Mutation 'R4271:Nfe2l3'
| ID |
322160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfe2l3
|
| Ensembl Gene |
ENSMUSG00000029832 |
| Gene Name |
nuclear factor, erythroid derived 2, like 3 |
| Synonyms |
Nrf3 |
| MMRRC Submission |
041076-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4271 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
51409650-51435748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51433614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 242
(D242G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005103]
[ENSMUST00000069949]
[ENSMUST00000090002]
[ENSMUST00000160133]
[ENSMUST00000203954]
[ENSMUST00000204158]
|
| AlphaFold |
Q9WTM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000005103
AA Change: D242G
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000005103
Gene: ENSMUSG00000029832
AA Change: D242G
| 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 damaging
Transcript: ENSMUST00000160133
AA Change: D242G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124920
Gene: ENSMUSG00000029832
AA Change: D242G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204885
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931422A03Rik |
A |
G |
2: 103,856,549 (GRCm39) |
|
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,073,934 (GRCm39) |
|
probably null |
Het |
| Actr6 |
T |
A |
10: 89,553,101 (GRCm39) |
R252S |
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
| Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
| B430203G13Rik |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
12: 17,974,358 (GRCm39) |
|
noncoding transcript |
Het |
| C1galt1 |
T |
C |
6: 7,866,607 (GRCm39) |
F151S |
probably damaging |
Het |
| C1qtnf6 |
G |
A |
15: 78,409,466 (GRCm39) |
T127I |
probably benign |
Het |
| Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
| Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,739,436 (GRCm39) |
H1360Y |
probably damaging |
Het |
| Cfap70 |
T |
C |
14: 20,470,793 (GRCm39) |
E484G |
probably benign |
Het |
| Chml |
G |
A |
1: 175,515,360 (GRCm39) |
T187M |
probably benign |
Het |
| Chpt1 |
C |
T |
10: 88,317,214 (GRCm39) |
|
probably benign |
Het |
| Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
| Cspg4b |
G |
T |
13: 113,478,904 (GRCm39) |
V1483L |
possibly damaging |
Het |
| Cyfip1 |
A |
T |
7: 55,528,849 (GRCm39) |
M244L |
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,335,783 (GRCm39) |
I59T |
probably damaging |
Het |
| Duox1 |
T |
C |
2: 122,154,856 (GRCm39) |
F414L |
probably damaging |
Het |
| Gm1110 |
A |
T |
9: 26,806,944 (GRCm39) |
|
probably null |
Het |
| Gsap |
T |
C |
5: 21,431,348 (GRCm39) |
|
probably null |
Het |
| H2-T3 |
T |
C |
17: 36,500,510 (GRCm39) |
Y111C |
probably damaging |
Het |
| Hectd4 |
AGCGGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGGCGG |
5: 121,358,567 (GRCm39) |
|
probably benign |
Het |
| Kif12 |
T |
C |
4: 63,088,983 (GRCm39) |
Q146R |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
| Klhl15 |
AG |
A |
X: 93,296,718 (GRCm39) |
|
probably null |
Het |
| Lims1 |
T |
C |
10: 58,246,026 (GRCm39) |
|
probably null |
Het |
| Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
| Oacyl |
T |
A |
18: 65,871,038 (GRCm39) |
L340Q |
probably damaging |
Het |
| Or4n4b |
A |
T |
14: 50,535,908 (GRCm39) |
I286N |
probably damaging |
Het |
| Or5p80 |
T |
A |
7: 108,229,560 (GRCm39) |
Y120* |
probably null |
Het |
| Osbpl5 |
G |
T |
7: 143,249,339 (GRCm39) |
Y543* |
probably null |
Het |
| Polr1a |
G |
A |
6: 71,930,006 (GRCm39) |
E898K |
probably benign |
Het |
| Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
| Rad54l2 |
G |
A |
9: 106,570,825 (GRCm39) |
A1165V |
probably benign |
Het |
| Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,942,408 (GRCm39) |
D306G |
probably damaging |
Het |
| Slco4a1 |
A |
G |
2: 180,116,003 (GRCm39) |
D713G |
possibly damaging |
Het |
| Smarca2 |
T |
A |
19: 26,698,349 (GRCm39) |
|
probably null |
Het |
| Spem2 |
T |
C |
11: 69,708,251 (GRCm39) |
Y238C |
probably damaging |
Het |
| Srpk2 |
T |
A |
5: 23,753,513 (GRCm39) |
H80L |
possibly damaging |
Het |
| Tmem161a |
T |
C |
8: 70,634,162 (GRCm39) |
L365P |
probably damaging |
Het |
| Tsnax |
T |
C |
8: 125,759,468 (GRCm39) |
L243P |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,731,979 (GRCm39) |
|
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,702,839 (GRCm39) |
T102A |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,463,940 (GRCm39) |
I783M |
probably damaging |
Het |
| Zeb1 |
C |
A |
18: 5,758,985 (GRCm39) |
Q148K |
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 |
|
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 |
|
R9071:Nfe2l3
|
UTSW |
6 |
51,434,243 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CAGAAGCATTTGTCTACTAGAAATCCG -3'
(R):5'- TACTTGGCAAATTGCTGTGTC -3'
Sequencing Primer
(F):5'- CTAGGATTGCCATGAGTTCCAGAC -3'
(R):5'- GCAAATTGCTGTGTCTTCCAAG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation