Incidental Mutation 'R7625:Nrf1'
ID |
589380 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrf1
|
Ensembl Gene |
ENSMUSG00000058440 |
Gene Name |
nuclear respiratory factor 1 |
Synonyms |
D6Ertd415e |
MMRRC Submission |
045719-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7625 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
30047987-30153457 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 30116230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 301
(V301I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004761]
[ENSMUST00000069808]
[ENSMUST00000069831]
[ENSMUST00000115199]
[ENSMUST00000115200]
[ENSMUST00000115204]
[ENSMUST00000115206]
[ENSMUST00000115212]
[ENSMUST00000115208]
[ENSMUST00000115209]
[ENSMUST00000115211]
[ENSMUST00000167972]
[ENSMUST00000170535]
|
AlphaFold |
Q9WU00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004761
AA Change: V301I
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000004761 Gene: ENSMUSG00000058440 AA Change: V301I
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 benign
Transcript: ENSMUST00000069808
AA Change: V301I
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000065568 Gene: ENSMUSG00000058440 AA Change: V301I
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 |
probably benign
Transcript: ENSMUST00000069831
AA Change: V313I
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000067447 Gene: ENSMUSG00000058440 AA Change: V313I
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 |
probably benign
Transcript: ENSMUST00000115199
AA Change: V313I
PolyPhen 2
Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000110853 Gene: ENSMUSG00000058440 AA Change: V313I
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 |
probably benign
Transcript: ENSMUST00000115200
AA Change: V301I
PolyPhen 2
Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000110854 Gene: ENSMUSG00000058440 AA Change: V301I
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 benign
Transcript: ENSMUST00000115204
AA Change: V301I
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000110858 Gene: ENSMUSG00000058440 AA Change: V301I
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: ENSMUST00000115206
AA Change: V301I
PolyPhen 2
Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000110860 Gene: ENSMUSG00000058440 AA Change: V301I
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 |
probably benign
Transcript: ENSMUST00000115212
AA Change: V301I
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110867 Gene: ENSMUSG00000058440 AA Change: V301I
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 benign
Transcript: ENSMUST00000115208
AA Change: V301I
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110863 Gene: ENSMUSG00000058440 AA Change: V301I
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 |
probably benign
Transcript: ENSMUST00000115209
AA Change: V301I
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110864 Gene: ENSMUSG00000058440 AA Change: V301I
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 benign
Transcript: ENSMUST00000115211
AA Change: V301I
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000110866 Gene: ENSMUSG00000058440 AA Change: V301I
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 |
|
SMART Domains |
Protein: ENSMUSP00000114451 Gene: ENSMUSG00000058440 AA Change: V39I
Domain | Start | End | E-Value | Type |
Pfam:Nrf1_DNA-bind
|
1 |
22 |
1.1e-9 |
PFAM |
low complexity region
|
24 |
33 |
N/A |
INTRINSIC |
low complexity region
|
116 |
133 |
N/A |
INTRINSIC |
low complexity region
|
148 |
162 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167972
AA Change: V301I
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000130108 Gene: ENSMUSG00000058440 AA Change: V301I
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 benign
Transcript: ENSMUST00000170535
AA Change: V301I
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000132637 Gene: ENSMUSG00000058440 AA Change: V301I
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
98% (59/60) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
A |
8: 111,773,587 (GRCm39) |
V506E |
probably damaging |
Het |
Acaa2 |
G |
T |
18: 74,937,213 (GRCm39) |
V366F |
possibly damaging |
Het |
Ago1 |
G |
A |
4: 126,337,022 (GRCm39) |
R532C |
probably benign |
Het |
Ank2 |
T |
G |
3: 126,846,449 (GRCm39) |
D182A |
probably damaging |
Het |
Anxa4 |
T |
C |
6: 86,714,801 (GRCm39) |
D302G |
probably damaging |
Het |
Apoa4 |
A |
T |
9: 46,154,410 (GRCm39) |
E337V |
probably damaging |
Het |
Atf1 |
A |
G |
15: 100,152,158 (GRCm39) |
|
probably null |
Het |
Atp8b3 |
A |
C |
10: 80,355,980 (GRCm39) |
V1244G |
probably benign |
Het |
Cactin |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG |
10: 81,157,152 (GRCm39) |
|
probably benign |
Het |
Camk2a |
G |
A |
18: 61,085,412 (GRCm39) |
V132M |
probably damaging |
Het |
Cdc40 |
A |
T |
10: 40,724,048 (GRCm39) |
Y247N |
probably benign |
Het |
Chd8 |
G |
A |
14: 52,474,534 (GRCm39) |
P166S |
probably benign |
Het |
Chl1 |
T |
A |
6: 103,706,086 (GRCm39) |
S1140R |
probably damaging |
Het |
Clstn3 |
G |
T |
6: 124,414,377 (GRCm39) |
S783* |
probably null |
Het |
Col6a1 |
A |
G |
10: 76,549,760 (GRCm39) |
S562P |
unknown |
Het |
Cpb2 |
G |
A |
14: 75,509,989 (GRCm39) |
V250M |
possibly damaging |
Het |
Cyp2c38 |
T |
A |
19: 39,451,368 (GRCm39) |
Q44L |
possibly damaging |
Het |
Dgat1 |
T |
C |
15: 76,387,395 (GRCm39) |
M325V |
possibly damaging |
Het |
Dnah11 |
T |
A |
12: 118,160,377 (GRCm39) |
M118L |
probably benign |
Het |
Dpy19l3 |
T |
A |
7: 35,452,106 (GRCm39) |
I13L |
probably benign |
Het |
Enkd1 |
A |
G |
8: 106,431,265 (GRCm39) |
|
probably null |
Het |
Fam241b |
A |
G |
10: 61,970,479 (GRCm39) |
|
probably benign |
Het |
Fhit |
T |
A |
14: 9,870,177 (GRCm38) |
|
probably null |
Het |
Gp6 |
T |
C |
7: 4,373,173 (GRCm39) |
E250G |
probably benign |
Het |
Hmgb1 |
T |
C |
5: 148,987,150 (GRCm39) |
E84G |
probably benign |
Het |
Hscb |
T |
A |
5: 110,977,012 (GRCm39) |
I227F |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,292,249 (GRCm39) |
L4047Q |
probably damaging |
Het |
Hsph1 |
A |
G |
5: 149,541,901 (GRCm39) |
L775P |
probably benign |
Het |
Hydin |
A |
T |
8: 111,268,476 (GRCm39) |
S2947C |
probably benign |
Het |
Intu |
T |
C |
3: 40,652,029 (GRCm39) |
S829P |
probably benign |
Het |
Kcnn3 |
C |
A |
3: 89,516,977 (GRCm39) |
T462K |
probably damaging |
Het |
Kndc1 |
G |
A |
7: 139,517,930 (GRCm39) |
C1622Y |
possibly damaging |
Het |
Lifr |
T |
C |
15: 7,198,723 (GRCm39) |
Y318H |
probably damaging |
Het |
Mier2 |
A |
G |
10: 79,378,543 (GRCm39) |
S332P |
probably damaging |
Het |
Mindy4 |
T |
C |
6: 55,253,598 (GRCm39) |
I489T |
possibly damaging |
Het |
Mmp8 |
A |
T |
9: 7,566,218 (GRCm39) |
Q358L |
probably benign |
Het |
Ms4a4a |
T |
A |
19: 11,367,728 (GRCm39) |
|
probably null |
Het |
Nav1 |
G |
C |
1: 135,395,483 (GRCm39) |
S962C |
probably damaging |
Het |
Nfe2l1 |
G |
A |
11: 96,710,271 (GRCm39) |
R653C |
probably damaging |
Het |
Nherf4 |
A |
T |
9: 44,161,594 (GRCm39) |
I95N |
probably damaging |
Het |
Nod2 |
A |
T |
8: 89,391,906 (GRCm39) |
I738F |
probably damaging |
Het |
Oog1 |
T |
C |
12: 87,655,082 (GRCm39) |
F410S |
probably benign |
Het |
Or52a33 |
A |
G |
7: 103,289,165 (GRCm39) |
Y61H |
probably damaging |
Het |
Or6k4 |
G |
A |
1: 173,964,733 (GRCm39) |
C141Y |
probably benign |
Het |
Pcdhga8 |
G |
A |
18: 37,859,954 (GRCm39) |
V337I |
probably benign |
Het |
Pelp1 |
G |
T |
11: 70,286,260 (GRCm39) |
N572K |
probably benign |
Het |
Pikfyve |
T |
C |
1: 65,307,036 (GRCm39) |
V1808A |
possibly damaging |
Het |
Pirt |
A |
C |
11: 66,816,769 (GRCm39) |
S27R |
probably damaging |
Het |
Pramel20 |
A |
T |
4: 143,298,821 (GRCm39) |
I255L |
probably benign |
Het |
Rgs17 |
A |
T |
10: 5,791,488 (GRCm39) |
D96E |
probably benign |
Het |
Senp1 |
A |
G |
15: 97,964,679 (GRCm39) |
F206L |
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,825,756 (GRCm39) |
S584T |
probably benign |
Het |
Tex44 |
A |
T |
1: 86,354,459 (GRCm39) |
K123* |
probably null |
Het |
Tpst2 |
C |
A |
5: 112,455,887 (GRCm39) |
T142K |
probably damaging |
Het |
Ttc28 |
G |
A |
5: 111,433,085 (GRCm39) |
G2040R |
possibly damaging |
Het |
Uggt2 |
T |
A |
14: 119,263,905 (GRCm39) |
I1042F |
probably damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,325,693 (GRCm39) |
S104P |
probably damaging |
Het |
Wdfy3 |
T |
C |
5: 102,003,252 (GRCm39) |
|
probably null |
Het |
Zeb2 |
G |
A |
2: 44,892,584 (GRCm39) |
A223V |
probably damaging |
Het |
Zfp1002 |
T |
C |
2: 150,096,520 (GRCm39) |
D303G |
probably benign |
Het |
Zfp566 |
A |
G |
7: 29,777,930 (GRCm39) |
S84P |
probably benign |
Het |
Zfp994 |
T |
A |
17: 22,420,736 (GRCm39) |
H71L |
possibly damaging |
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 |
R6470:Nrf1
|
UTSW |
6 |
30,102,199 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |
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'- CGAGGTTTGATAAATACATGCCTG -3'
(R):5'- GAGCAGCTGTTAGGATGTGC -3'
Sequencing Primer
(F):5'- TGTGGTGGCATAAATCCCC -3'
(R):5'- CAGCTGTTAGGATGTGCAGAGAAG -3'
|
Posted On |
2019-10-24 |