Incidental Mutation 'R1455:Nfe2l3'
| ID |
161716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfe2l3
|
| Ensembl Gene |
ENSMUSG00000029832 |
| Gene Name |
nuclear factor, erythroid derived 2, like 3 |
| Synonyms |
Nrf3 |
| MMRRC Submission |
039510-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1455 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
51409650-51435748 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 51434744 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 435
(P435T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000005103
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005103]
[ENSMUST00000069949]
[ENSMUST00000090002]
[ENSMUST00000114459]
[ENSMUST00000160133]
[ENSMUST00000203220]
[ENSMUST00000203954]
[ENSMUST00000204158]
[ENSMUST00000204188]
|
| AlphaFold |
Q9WTM4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000005103
AA Change: P435T
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000005103
Gene: ENSMUSG00000029832
AA Change: P435T
| 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: ENSMUST00000114459
|
| SMART Domains |
Protein: ENSMUSP00000110103
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: ENSMUST00000203220
|
| SMART Domains |
Protein: ENSMUSP00000145374
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: 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 |
noncoding transcript
Transcript: ENSMUST00000204885
|
| 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 |
probably benign
Transcript: ENSMUST00000204188
|
| SMART Domains |
Protein: ENSMUSP00000145245
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: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 87.9%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
T |
C |
2: 151,314,824 (GRCm39) |
N285D |
possibly damaging |
Het |
| Adam9 |
T |
G |
8: 25,483,125 (GRCm39) |
M227L |
probably benign |
Het |
| Ankrd35 |
A |
G |
3: 96,585,471 (GRCm39) |
D21G |
probably damaging |
Het |
| Arhgap32 |
C |
T |
9: 32,171,381 (GRCm39) |
A1387V |
probably benign |
Het |
| Atg4d |
T |
A |
9: 21,182,097 (GRCm39) |
V306E |
probably damaging |
Het |
| Brsk1 |
G |
A |
7: 4,707,250 (GRCm39) |
V268M |
probably damaging |
Het |
| Cfap300 |
T |
G |
9: 8,022,457 (GRCm39) |
N255T |
probably benign |
Het |
| Clec4a4 |
A |
G |
6: 122,989,758 (GRCm39) |
E133G |
possibly damaging |
Het |
| Col24a1 |
T |
A |
3: 145,166,593 (GRCm39) |
L1076H |
probably damaging |
Het |
| Ddah1 |
G |
T |
3: 145,594,864 (GRCm39) |
R208L |
probably benign |
Het |
| Dysf |
A |
G |
6: 84,090,368 (GRCm39) |
N960S |
probably benign |
Het |
| Egln2 |
A |
G |
7: 26,859,796 (GRCm39) |
Y306H |
probably damaging |
Het |
| Fgfr1 |
T |
C |
8: 26,052,292 (GRCm39) |
V293A |
possibly damaging |
Het |
| Gja3 |
A |
G |
14: 57,273,842 (GRCm39) |
Y177H |
probably damaging |
Het |
| Glul |
T |
A |
1: 153,782,845 (GRCm39) |
|
probably null |
Het |
| Gprc5a |
G |
A |
6: 135,056,245 (GRCm39) |
V231I |
probably benign |
Het |
| Kdm4d |
C |
A |
9: 14,375,691 (GRCm39) |
A56S |
probably damaging |
Het |
| Lingo4 |
G |
A |
3: 94,306,699 (GRCm39) |
|
probably benign |
Het |
| Map6 |
A |
G |
7: 98,917,421 (GRCm39) |
T65A |
probably damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,121,089 (GRCm39) |
I653T |
probably benign |
Het |
| Ndufa12 |
A |
G |
10: 94,039,176 (GRCm39) |
T70A |
probably benign |
Het |
| Npc1l1 |
A |
T |
11: 6,178,174 (GRCm39) |
V412E |
possibly damaging |
Het |
| Or51a39 |
A |
T |
7: 102,363,205 (GRCm39) |
Y138* |
probably null |
Het |
| Or6aa1 |
A |
T |
7: 86,043,803 (GRCm39) |
F301Y |
probably damaging |
Het |
| Pcnx1 |
T |
C |
12: 82,020,008 (GRCm39) |
F1344L |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,181,818 (GRCm39) |
V297A |
probably benign |
Het |
| Pole2 |
G |
A |
12: 69,254,703 (GRCm39) |
L381F |
probably benign |
Het |
| Pramel7 |
T |
C |
2: 87,320,067 (GRCm39) |
T409A |
probably benign |
Het |
| Proc |
C |
G |
18: 32,256,451 (GRCm39) |
M405I |
probably damaging |
Het |
| Serinc2 |
C |
A |
4: 130,158,133 (GRCm39) |
A105S |
probably damaging |
Het |
| Slc4a10 |
G |
T |
2: 62,117,274 (GRCm39) |
K744N |
probably damaging |
Het |
| Spdye4c |
A |
T |
2: 128,438,478 (GRCm39) |
I279F |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,129,822 (GRCm39) |
R568L |
probably damaging |
Het |
| Stag3 |
T |
A |
5: 138,309,997 (GRCm39) |
M1215K |
probably benign |
Het |
| Tenm3 |
C |
T |
8: 48,732,083 (GRCm39) |
A1274T |
possibly damaging |
Het |
| Tet2 |
A |
G |
3: 133,179,406 (GRCm39) |
V1253A |
possibly damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trip12 |
T |
C |
1: 84,736,821 (GRCm39) |
I800V |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,248,013 (GRCm39) |
I1072T |
probably benign |
Het |
| Zfp148 |
T |
A |
16: 33,315,835 (GRCm39) |
|
probably null |
Het |
| Zfp941 |
A |
G |
7: 140,392,687 (GRCm39) |
V224A |
probably benign |
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 |
|
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 |
|
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'- AGCAAGCCACTCCTGCAATGTCTC -3'
(R):5'- TGCGACTTCTCAGACCATGCAAAAG -3'
Sequencing Primer
(F):5'- CACAGGTTTCAGTCCATTGGAAG -3'
(R):5'- TTCTCAGACCATGCAAAAGATTCAG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation