Incidental Mutation 'R7106:Nrf1'
ID |
551171 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrf1
|
Ensembl Gene |
ENSMUSG00000058440 |
Gene Name |
nuclear respiratory factor 1 |
Synonyms |
D6Ertd415e |
MMRRC Submission |
045198-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7106 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
30047987-30153457 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 30102183 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 161
(S161G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004761]
[ENSMUST00000069808]
[ENSMUST00000069831]
[ENSMUST00000115199]
[ENSMUST00000115200]
[ENSMUST00000115204]
[ENSMUST00000115212]
[ENSMUST00000115206]
[ENSMUST00000115208]
[ENSMUST00000115209]
[ENSMUST00000115211]
[ENSMUST00000123194]
[ENSMUST00000167972]
[ENSMUST00000170535]
|
AlphaFold |
Q9WU00 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004761
AA Change: S161G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000004761 Gene: ENSMUSG00000058440 AA Change: S161G
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: S161G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000065568 Gene: ENSMUSG00000058440 AA Change: S161G
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: S173G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000067447 Gene: ENSMUSG00000058440 AA Change: S173G
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: S173G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000110853 Gene: ENSMUSG00000058440 AA Change: S173G
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: S161G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110854 Gene: ENSMUSG00000058440 AA Change: S161G
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: S161G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110858 Gene: ENSMUSG00000058440 AA Change: S161G
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: ENSMUST00000115212
AA Change: S161G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110867 Gene: ENSMUSG00000058440 AA Change: S161G
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: ENSMUST00000115206
AA Change: S161G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000110860 Gene: ENSMUSG00000058440 AA Change: S161G
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: ENSMUST00000115208
AA Change: S161G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000110863 Gene: ENSMUSG00000058440 AA Change: S161G
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: S161G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110864 Gene: ENSMUSG00000058440 AA Change: S161G
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: S161G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110866 Gene: ENSMUSG00000058440 AA Change: S161G
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: 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 |
probably benign
Transcript: ENSMUST00000167972
AA Change: S161G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000130108 Gene: ENSMUSG00000058440 AA Change: S161G
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: S161G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000132637 Gene: ENSMUSG00000058440 AA Change: S161G
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 |
|
Meta Mutation Damage Score |
0.0590 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (62/62) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldob |
T |
C |
4: 49,541,258 (GRCm39) |
Y138C |
probably damaging |
Het |
Ano7 |
A |
C |
1: 93,302,705 (GRCm39) |
|
probably null |
Het |
Arvcf |
T |
A |
16: 18,217,799 (GRCm39) |
V497E |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,980,162 (GRCm39) |
|
probably null |
Het |
Brinp1 |
C |
T |
4: 68,747,615 (GRCm39) |
A163T |
probably benign |
Het |
Catsperd |
C |
A |
17: 56,965,070 (GRCm39) |
|
probably null |
Het |
Ccm2l |
A |
G |
2: 152,912,571 (GRCm39) |
H70R |
possibly damaging |
Het |
Cgnl1 |
G |
A |
9: 71,633,015 (GRCm39) |
T112I |
probably benign |
Het |
Chid1 |
T |
C |
7: 141,102,573 (GRCm39) |
H220R |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,733,190 (GRCm39) |
V106A |
probably damaging |
Het |
Cldn23 |
A |
C |
8: 36,293,069 (GRCm39) |
S140A |
probably benign |
Het |
Dennd2c |
T |
C |
3: 103,038,893 (GRCm39) |
S14P |
possibly damaging |
Het |
Det1 |
T |
C |
7: 78,493,212 (GRCm39) |
D264G |
probably damaging |
Het |
Dmwd |
T |
C |
7: 18,814,454 (GRCm39) |
V368A |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,924,884 (GRCm39) |
K3362E |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,960,152 (GRCm39) |
F2208L |
probably damaging |
Het |
Dnaja3 |
T |
C |
16: 4,523,798 (GRCm39) |
I477T |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,947,591 (GRCm39) |
K482E |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,855,563 (GRCm39) |
I1493T |
unknown |
Het |
Ehbp1l1 |
A |
G |
19: 5,768,765 (GRCm39) |
V846A |
probably benign |
Het |
Fbxl4 |
T |
A |
4: 22,427,140 (GRCm39) |
|
probably null |
Het |
Fgd2 |
T |
A |
17: 29,595,944 (GRCm39) |
L534* |
probably null |
Het |
Fgfr3 |
T |
C |
5: 33,888,758 (GRCm39) |
V349A |
probably damaging |
Het |
Gal3st1 |
A |
T |
11: 3,948,509 (GRCm39) |
I239F |
probably damaging |
Het |
Gpatch3 |
C |
A |
4: 133,305,514 (GRCm39) |
H250N |
probably benign |
Het |
Guca1b |
A |
T |
17: 47,702,236 (GRCm39) |
K230* |
probably null |
Het |
Itga3 |
G |
T |
11: 94,946,699 (GRCm39) |
L737I |
probably benign |
Het |
Kmt5c |
A |
G |
7: 4,745,705 (GRCm39) |
K122E |
probably damaging |
Het |
Kpna4 |
G |
A |
3: 68,986,797 (GRCm39) |
Q531* |
probably null |
Het |
Lctl |
A |
G |
9: 64,040,119 (GRCm39) |
E410G |
probably benign |
Het |
Lhx1 |
T |
C |
11: 84,412,903 (GRCm39) |
N128D |
probably benign |
Het |
Lifr |
A |
G |
15: 7,202,405 (GRCm39) |
N349D |
probably benign |
Het |
Map2 |
G |
A |
1: 66,449,903 (GRCm39) |
A209T |
possibly damaging |
Het |
Mif4gd |
G |
A |
11: 115,502,737 (GRCm39) |
A25V |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,059,680 (GRCm39) |
S1353P |
probably damaging |
Het |
Myh9 |
A |
G |
15: 77,659,321 (GRCm39) |
C931R |
probably benign |
Het |
Nelfe |
T |
G |
17: 35,071,395 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
G |
A |
7: 116,017,368 (GRCm39) |
Q130* |
probably null |
Het |
Prex2 |
T |
A |
1: 11,207,017 (GRCm39) |
M525K |
probably benign |
Het |
Psme2 |
A |
G |
14: 55,825,694 (GRCm39) |
S165P |
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,973,915 (GRCm39) |
F1477S |
probably benign |
Het |
Rasef |
A |
T |
4: 73,645,864 (GRCm39) |
C502S |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,780,988 (GRCm39) |
L565* |
probably null |
Het |
Sav1 |
A |
G |
12: 70,031,390 (GRCm39) |
I44T |
probably damaging |
Het |
Selp |
T |
A |
1: 163,953,991 (GRCm39) |
I97N |
probably benign |
Het |
Serpina1d |
A |
G |
12: 103,731,980 (GRCm39) |
F293S |
probably benign |
Het |
Sin3b |
T |
C |
8: 73,450,765 (GRCm39) |
F65L |
possibly damaging |
Het |
Sorcs3 |
G |
C |
19: 48,694,402 (GRCm39) |
G559R |
probably damaging |
Het |
Susd2 |
A |
T |
10: 75,473,887 (GRCm39) |
D689E |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,389,360 (GRCm39) |
M448L |
probably benign |
Het |
Tbc1d30 |
A |
T |
10: 121,137,897 (GRCm39) |
I181N |
possibly damaging |
Het |
Tcea3 |
A |
G |
4: 135,998,679 (GRCm39) |
T318A |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
Tpp1 |
A |
C |
7: 105,399,118 (GRCm39) |
S153A |
possibly damaging |
Het |
Trip13 |
C |
T |
13: 74,062,651 (GRCm39) |
V387I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,627,832 (GRCm39) |
I14704V |
probably benign |
Het |
Uimc1 |
C |
A |
13: 55,198,628 (GRCm39) |
C516F |
possibly damaging |
Het |
Vit |
A |
G |
17: 78,894,228 (GRCm39) |
N210S |
probably benign |
Het |
Vmn1r22 |
G |
T |
6: 57,877,296 (GRCm39) |
T227K |
probably damaging |
Het |
Vmn2r5 |
A |
G |
3: 64,399,104 (GRCm39) |
I625T |
probably benign |
Het |
Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
T |
C |
6: 125,001,222 (GRCm39) |
L98P |
probably benign |
Het |
Zfp809 |
G |
T |
9: 22,147,520 (GRCm39) |
K51N |
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 |
R6470:Nrf1
|
UTSW |
6 |
30,102,199 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- AGAAGCAGTGGACTTCTCCC -3'
(R):5'- TCAAGCTCTGGTCACATCGC -3'
Sequencing Primer
(F):5'- CTGCTGTTACCTAAAATTTCATCATC -3'
(R):5'- TCTGGTCACATCGCCAACC -3'
|
Posted On |
2019-05-15 |