Incidental Mutation 'R6470:Nrf1'
| ID |
516469 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrf1
|
| Ensembl Gene |
ENSMUSG00000058440 |
| Gene Name |
nuclear respiratory factor 1 |
| Synonyms |
D6Ertd415e |
| MMRRC Submission |
044603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6470 (G1)
|
| Quality Score |
188.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
30047987-30153457 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 30102199 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 166
(D166G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004761]
[ENSMUST00000069808]
[ENSMUST00000069831]
[ENSMUST00000115199]
[ENSMUST00000115200]
[ENSMUST00000115204]
[ENSMUST00000115206]
[ENSMUST00000115212]
[ENSMUST00000115208]
[ENSMUST00000115209]
[ENSMUST00000115211]
[ENSMUST00000167972]
[ENSMUST00000170535]
[ENSMUST00000123194]
|
| AlphaFold |
Q9WU00 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004761
AA Change: D166G
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000004761
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
2e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
486 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069808
AA Change: D166G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000065568
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
283 |
1.1e-119 |
PFAM |
|
low complexity region
|
285 |
294 |
N/A |
INTRINSIC |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
Pfam:YchF-GTPase_C
|
448 |
526 |
2.2e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069831
AA Change: D178G
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000067447
Gene: ENSMUSG00000058440
AA Change: D178G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
87 |
297 |
3.3e-132 |
PFAM |
|
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115199
AA Change: D178G
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110853
Gene: ENSMUSG00000058440
AA Change: D178G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
87 |
297 |
3.3e-132 |
PFAM |
|
low complexity region
|
389 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
435 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115200
AA Change: D166G
PolyPhen 2
Score 0.672 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110854
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
2e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
486 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115204
AA Change: D166G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110858
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
2.2e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115206
AA Change: D166G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110860
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
3.3e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
Pfam:YchF-GTPase_C
|
448 |
526 |
3.9e-34 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115212
AA Change: D166G
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
2.9e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_activ_bdg
|
449 |
503 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115208
AA Change: D166G
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110863
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
1.6e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115209
AA Change: D166G
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
2.9e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_activ_bdg
|
449 |
503 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000115211
AA Change: D166G
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
2.9e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_activ_bdg
|
449 |
503 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167972
AA Change: D166G
PolyPhen 2
Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
2.9e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
409 |
423 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_activ_bdg
|
449 |
503 |
1.2e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170535
AA Change: D166G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132637
Gene: ENSMUSG00000058440
AA Change: D166G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
75 |
285 |
2.2e-132 |
PFAM |
|
low complexity region
|
377 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123194
|
| SMART Domains |
Protein: ENSMUSP00000114650
Gene: ENSMUSG00000058440
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
39 |
57 |
N/A |
INTRINSIC |
|
Pfam:Nrf1_DNA-bind
|
87 |
167 |
2.7e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146988
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133837
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality between E3.5 and E6.5 associated with decreased cellular proliferation and mitochondrial DNA content. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
G |
T |
8: 88,290,656 (GRCm39) |
V5L |
probably benign |
Het |
| Bptf |
A |
G |
11: 106,963,593 (GRCm39) |
V1804A |
probably damaging |
Het |
| Brinp3 |
A |
G |
1: 146,777,644 (GRCm39) |
D697G |
probably damaging |
Het |
| Carns1 |
T |
C |
19: 4,221,782 (GRCm39) |
T158A |
possibly damaging |
Het |
| Cd300lg |
A |
G |
11: 101,941,331 (GRCm39) |
N244S |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,815,285 (GRCm39) |
Q12L |
possibly damaging |
Het |
| Chd9 |
A |
G |
8: 91,659,426 (GRCm39) |
T129A |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,510,024 (GRCm39) |
|
probably null |
Het |
| Cubn |
G |
T |
2: 13,327,804 (GRCm39) |
R2674S |
possibly damaging |
Het |
| Cyp2b10 |
T |
C |
7: 25,611,081 (GRCm39) |
I146T |
possibly damaging |
Het |
| Cyp4v3 |
C |
T |
8: 45,770,773 (GRCm39) |
W244* |
probably null |
Het |
| Dnah6 |
T |
A |
6: 73,051,569 (GRCm39) |
D3075V |
probably damaging |
Het |
| Dpy19l2 |
A |
T |
9: 24,572,039 (GRCm39) |
I327N |
possibly damaging |
Het |
| Dst |
T |
A |
1: 34,334,318 (GRCm39) |
F4849I |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,043,926 (GRCm39) |
I256V |
possibly damaging |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| Garin5b |
T |
C |
7: 4,760,850 (GRCm39) |
T621A |
probably benign |
Het |
| Gba1 |
C |
T |
3: 89,111,388 (GRCm39) |
P51L |
probably benign |
Het |
| Gm9936 |
T |
C |
5: 114,995,482 (GRCm39) |
|
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,503,680 (GRCm39) |
F312S |
probably damaging |
Het |
| Ifna2 |
T |
C |
4: 88,601,751 (GRCm39) |
N89S |
probably benign |
Het |
| Il17rb |
A |
G |
14: 29,724,866 (GRCm39) |
S207P |
probably benign |
Het |
| Itga9 |
A |
T |
9: 118,726,335 (GRCm39) |
I430F |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Ltk |
A |
T |
2: 119,583,516 (GRCm39) |
|
probably null |
Het |
| Nat8l |
C |
T |
5: 34,155,836 (GRCm39) |
T164M |
probably damaging |
Het |
| Nxph3 |
A |
G |
11: 95,401,919 (GRCm39) |
I165T |
possibly damaging |
Het |
| Or10a4 |
T |
C |
7: 106,696,951 (GRCm39) |
I93T |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,663,826 (GRCm39) |
D955G |
probably benign |
Het |
| Pianp |
T |
A |
6: 124,976,232 (GRCm39) |
|
probably benign |
Het |
| Plin2 |
G |
T |
4: 86,586,607 (GRCm39) |
Q75K |
probably damaging |
Het |
| Qrich1 |
T |
C |
9: 108,411,717 (GRCm39) |
V414A |
probably damaging |
Het |
| Ros1 |
A |
G |
10: 52,042,140 (GRCm39) |
|
probably null |
Het |
| Sardh |
C |
T |
2: 27,134,384 (GRCm39) |
R44Q |
probably damaging |
Het |
| Scaf4 |
C |
T |
16: 90,026,526 (GRCm39) |
W1072* |
probably null |
Het |
| Sh3rf3 |
A |
G |
10: 58,819,791 (GRCm39) |
K201E |
probably damaging |
Het |
| Shprh |
G |
T |
10: 11,047,681 (GRCm39) |
A1010S |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,047,019 (GRCm39) |
S260P |
probably damaging |
Het |
| Smap2 |
GACTCTAC |
GAC |
4: 120,830,282 (GRCm39) |
|
probably benign |
Het |
| Sptb |
A |
G |
12: 76,659,603 (GRCm39) |
L1099P |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,300,918 (GRCm39) |
D90G |
probably damaging |
Het |
| Syt10 |
T |
C |
15: 89,676,804 (GRCm39) |
D394G |
probably damaging |
Het |
| Tlr3 |
T |
C |
8: 45,850,422 (GRCm39) |
D301G |
probably damaging |
Het |
| Ubr3 |
T |
A |
2: 69,795,804 (GRCm39) |
M916K |
probably benign |
Het |
|
| Other mutations in Nrf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00906:Nrf1
|
APN |
6 |
30,098,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00909:Nrf1
|
APN |
6 |
30,098,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01556:Nrf1
|
APN |
6 |
30,126,366 (GRCm39) |
intron |
probably benign |
|
|
IGL02371:Nrf1
|
APN |
6 |
30,118,990 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03345:Nrf1
|
APN |
6 |
30,089,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1892:Nrf1
|
UTSW |
6 |
30,144,787 (GRCm39) |
missense |
probably null |
|
|
R4097:Nrf1
|
UTSW |
6 |
30,151,671 (GRCm39) |
nonsense |
probably null |
|
|
R5347:Nrf1
|
UTSW |
6 |
30,118,967 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5607:Nrf1
|
UTSW |
6 |
30,126,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5654:Nrf1
|
UTSW |
6 |
30,117,061 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5851:Nrf1
|
UTSW |
6 |
30,089,975 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7106:Nrf1
|
UTSW |
6 |
30,102,183 (GRCm39) |
missense |
probably benign |
|
|
R7334:Nrf1
|
UTSW |
6 |
30,118,970 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7476:Nrf1
|
UTSW |
6 |
30,116,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7510:Nrf1
|
UTSW |
6 |
30,151,633 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7625:Nrf1
|
UTSW |
6 |
30,116,230 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7882:Nrf1
|
UTSW |
6 |
30,090,299 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8101:Nrf1
|
UTSW |
6 |
30,098,449 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8338:Nrf1
|
UTSW |
6 |
30,140,247 (GRCm39) |
missense |
|
|
|
R8506:Nrf1
|
UTSW |
6 |
30,126,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9446:Nrf1
|
UTSW |
6 |
30,090,019 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGAAGCAGTGGACTTCTCC -3'
(R):5'- TCAAGCTCTGGTCACATCGC -3'
Sequencing Primer
(F):5'- GGCCAGCGGGTATTTTCTCC -3'
(R):5'- TCTGGTCACATCGCCAACC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation