Incidental Mutation 'R5765:Nfe2l3'
| ID |
446223 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfe2l3
|
| Ensembl Gene |
ENSMUSG00000029832 |
| Gene Name |
nuclear factor, erythroid derived 2, like 3 |
| Synonyms |
Nrf3 |
| MMRRC Submission |
043366-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5765 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
51409650-51435748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 51434226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 262
(D262G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005103
(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: D262G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000005103
Gene: ENSMUSG00000029832
AA Change: D262G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204885
|
| Meta Mutation Damage Score |
0.0730 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
94% (51/54) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
T |
11: 65,044,066 (GRCm39) |
|
probably benign |
Het |
| Abcf2 |
T |
C |
5: 24,778,421 (GRCm39) |
R246G |
probably damaging |
Het |
| Adamts19 |
G |
T |
18: 59,185,654 (GRCm39) |
C1176F |
probably damaging |
Het |
| Adh7 |
G |
A |
3: 137,932,090 (GRCm39) |
V235I |
probably benign |
Het |
| Aoc1l1 |
C |
T |
6: 48,955,471 (GRCm39) |
P694S |
probably damaging |
Het |
| Caprin2 |
G |
C |
6: 148,744,666 (GRCm39) |
P701A |
probably damaging |
Het |
| Casp7 |
T |
C |
19: 56,422,315 (GRCm39) |
V110A |
possibly damaging |
Het |
| Cd1d2 |
A |
T |
3: 86,894,549 (GRCm39) |
M106L |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,506,749 (GRCm39) |
|
probably benign |
Het |
| Cpm |
A |
G |
10: 117,507,638 (GRCm39) |
I252V |
probably benign |
Het |
| Dnaaf2 |
A |
C |
12: 69,239,627 (GRCm39) |
I631M |
probably damaging |
Het |
| Fads2b |
T |
G |
2: 85,314,538 (GRCm39) |
|
probably null |
Het |
| Fam117b |
A |
G |
1: 60,009,631 (GRCm39) |
|
probably null |
Het |
| Fbxw22 |
T |
C |
9: 109,214,064 (GRCm39) |
M251V |
probably benign |
Het |
| Fignl1 |
T |
C |
11: 11,752,011 (GRCm39) |
|
probably null |
Het |
| Foxp1 |
G |
A |
6: 98,992,423 (GRCm39) |
L156F |
probably damaging |
Het |
| Gdap1 |
A |
T |
1: 17,231,650 (GRCm39) |
M332L |
probably benign |
Het |
| H2-M3 |
T |
C |
17: 37,583,334 (GRCm39) |
F265S |
probably damaging |
Het |
| Il1rl1 |
C |
T |
1: 40,501,103 (GRCm39) |
A493V |
probably benign |
Het |
| Iqce |
A |
G |
5: 140,651,895 (GRCm39) |
S359P |
probably damaging |
Het |
| Kif2b |
C |
T |
11: 91,468,068 (GRCm39) |
E72K |
probably benign |
Het |
| Luzp1 |
T |
C |
4: 136,268,340 (GRCm39) |
S188P |
probably damaging |
Het |
| Med13l |
T |
A |
5: 118,866,707 (GRCm39) |
L587Q |
probably damaging |
Het |
| Mocs2 |
A |
G |
13: 114,962,692 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
T |
C |
9: 15,774,459 (GRCm39) |
Y200C |
probably damaging |
Het |
| Nalcn |
C |
T |
14: 123,702,138 (GRCm39) |
V458I |
possibly damaging |
Het |
| Nbea |
C |
T |
3: 55,912,719 (GRCm39) |
V1023I |
probably benign |
Het |
| Nbeal1 |
T |
A |
1: 60,331,006 (GRCm39) |
V2205D |
probably damaging |
Het |
| Nsfl1c |
T |
C |
2: 151,346,085 (GRCm39) |
Y169H |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,223,372 (GRCm39) |
R62* |
probably null |
Het |
| Pcdhga1 |
A |
G |
18: 37,796,714 (GRCm39) |
T573A |
probably benign |
Het |
| Plin4 |
C |
T |
17: 56,409,470 (GRCm39) |
C1276Y |
possibly damaging |
Het |
| Ppp6r1 |
C |
A |
7: 4,645,207 (GRCm39) |
R220L |
possibly damaging |
Het |
| Ptprz1 |
T |
G |
6: 23,000,235 (GRCm39) |
V775G |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,275,249 (GRCm39) |
T103A |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 57,577,217 (GRCm39) |
L404Q |
probably benign |
Het |
| Stradb |
C |
A |
1: 59,031,903 (GRCm39) |
H272N |
probably benign |
Het |
| Strn3 |
A |
G |
12: 51,680,410 (GRCm39) |
S397P |
probably benign |
Het |
| Synpo2l |
C |
T |
14: 20,716,198 (GRCm39) |
R126H |
possibly damaging |
Het |
| Tas2r104 |
A |
G |
6: 131,662,236 (GRCm39) |
Y158H |
probably benign |
Het |
| Tiparp |
T |
A |
3: 65,438,771 (GRCm39) |
I29N |
possibly damaging |
Het |
| Tnpo1 |
G |
A |
13: 98,996,349 (GRCm39) |
T484M |
probably benign |
Het |
| Tsc22d4 |
A |
G |
5: 137,756,805 (GRCm39) |
I78V |
probably benign |
Het |
| Ugt2b1 |
T |
C |
5: 87,067,265 (GRCm39) |
Y386C |
probably benign |
Het |
| Ugt2b38 |
A |
G |
5: 87,571,954 (GRCm39) |
V26A |
probably damaging |
Het |
| Vmn2r116 |
G |
A |
17: 23,620,378 (GRCm39) |
C704Y |
probably damaging |
Het |
| Vmn2r97 |
T |
A |
17: 19,167,442 (GRCm39) |
Y565* |
probably null |
Het |
| Zfand2b |
T |
A |
1: 75,147,171 (GRCm39) |
|
probably null |
Het |
| Zzef1 |
C |
T |
11: 72,712,763 (GRCm39) |
Q228* |
probably null |
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 |
|
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'- TTCACAATGTGGGCTTTAGCTTC -3'
(R):5'- TTGTGCCTGTGAAGACCTTG -3'
Sequencing Primer
(F):5'- GGGCTTTAGCTTCAAATGTATCGAC -3'
(R):5'- AAGACCTTGCTGATGGATCTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation