Incidental Mutation 'R9074:Nfe2l1'
| ID |
689686 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfe2l1
|
| Ensembl Gene |
ENSMUSG00000038615 |
| Gene Name |
nuclear factor, erythroid derived 2,-like 1 |
| Synonyms |
TCF-11, LCR-F1, TCF11, NRF1, Lcrf1 |
| MMRRC Submission |
068895-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9074 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
96708240-96720794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 96710573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 552
(A552V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103286
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081775]
[ENSMUST00000107657]
[ENSMUST00000107658]
[ENSMUST00000107659]
[ENSMUST00000126949]
[ENSMUST00000142065]
[ENSMUST00000167110]
[ENSMUST00000167149]
[ENSMUST00000169828]
|
| AlphaFold |
Q61985 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081775
AA Change: A552V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615
AA Change: A552V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WN7|M
|
172 |
206 |
1e-9 |
PDB |
|
low complexity region
|
402 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
492 |
N/A |
INTRINSIC |
|
BRLZ
|
621 |
685 |
9.8e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107657
AA Change: A552V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615
AA Change: A552V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WN7|M
|
172 |
206 |
1e-9 |
PDB |
|
low complexity region
|
402 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
492 |
N/A |
INTRINSIC |
|
BRLZ
|
621 |
685 |
9.8e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107658
AA Change: A552V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615
AA Change: A552V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WN7|M
|
172 |
206 |
1e-9 |
PDB |
|
low complexity region
|
402 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
492 |
N/A |
INTRINSIC |
|
BRLZ
|
621 |
685 |
9.8e-9 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107659
AA Change: A552V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103286
Gene: ENSMUSG00000038615
AA Change: A552V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WN7|M
|
172 |
206 |
1e-9 |
PDB |
|
low complexity region
|
402 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
492 |
N/A |
INTRINSIC |
|
BRLZ
|
621 |
697 |
1.93e-7 |
SMART |
|
transmembrane domain
|
719 |
741 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126949
|
| SMART Domains |
Protein: ENSMUSP00000120512
Gene: ENSMUSG00000038615
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1e5xa_
|
22 |
65 |
4e-3 |
SMART |
|
low complexity region
|
114 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142065
|
| SMART Domains |
Protein: ENSMUSP00000121423
Gene: ENSMUSG00000038615
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WN7|M
|
14 |
48 |
1e-10 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167110
AA Change: A394V
PolyPhen 2
Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127804
Gene: ENSMUSG00000038615
AA Change: A394V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WN7|M
|
14 |
48 |
1e-9 |
PDB |
|
low complexity region
|
244 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
287 |
334 |
N/A |
INTRINSIC |
|
BRLZ
|
463 |
527 |
9.8e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167149
AA Change: A552V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615
AA Change: A552V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3WN7|M
|
172 |
206 |
1e-9 |
PDB |
|
low complexity region
|
402 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
492 |
N/A |
INTRINSIC |
|
BRLZ
|
621 |
685 |
9.8e-9 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169828
AA Change: A264V
PolyPhen 2
Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000131585
Gene: ENSMUSG00000038615
AA Change: A264V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
127 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
204 |
N/A |
INTRINSIC |
|
BRLZ
|
333 |
397 |
9.8e-9 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases from the use of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations fail to form a primitive streak, lack mesoderm, show a non-cell autonomous defect in definitive erythropoiesis, and die around embryonic day 7.5. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg5 |
A |
T |
17: 84,972,257 (GRCm39) |
|
silent |
Het |
| Ackr2 |
T |
A |
9: 121,737,729 (GRCm39) |
C35S |
probably damaging |
Het |
| Adcy8 |
T |
A |
15: 64,573,940 (GRCm39) |
K1054N |
probably damaging |
Het |
| Adgrf1 |
A |
T |
17: 43,601,879 (GRCm39) |
|
probably benign |
Het |
| Akap9 |
T |
A |
5: 4,127,959 (GRCm39) |
I3765K |
probably benign |
Het |
| Brwd1 |
A |
T |
16: 95,824,610 (GRCm39) |
F1219I |
|
Het |
| Btc |
A |
T |
5: 91,508,603 (GRCm39) |
|
probably null |
Het |
| Cd163 |
C |
T |
6: 124,285,947 (GRCm39) |
R166* |
probably null |
Het |
| Cfap52 |
G |
A |
11: 67,822,656 (GRCm39) |
S405L |
probably benign |
Het |
| Clcn2 |
A |
G |
16: 20,531,414 (GRCm39) |
L210P |
possibly damaging |
Het |
| Creb3l3 |
T |
A |
10: 80,924,452 (GRCm39) |
|
probably null |
Het |
| Csn1s2a |
A |
T |
5: 87,934,458 (GRCm39) |
I144F |
probably benign |
Het |
| Dedd |
G |
T |
1: 171,167,888 (GRCm39) |
|
probably benign |
Het |
| Eef2k |
C |
T |
7: 120,491,124 (GRCm39) |
R537C |
probably damaging |
Het |
| Epas1 |
A |
T |
17: 87,135,267 (GRCm39) |
R633S |
probably benign |
Het |
| Fmn2 |
C |
A |
1: 174,436,198 (GRCm39) |
T723N |
unknown |
Het |
| Frmd4a |
G |
T |
2: 4,608,765 (GRCm39) |
G878W |
probably damaging |
Het |
| Ggcx |
T |
G |
6: 72,402,924 (GRCm39) |
F294C |
probably damaging |
Het |
| Ghr |
G |
A |
15: 3,370,470 (GRCm39) |
P132S |
possibly damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,299 (GRCm39) |
H517L |
probably damaging |
Het |
| Gm5862 |
T |
C |
5: 26,226,624 (GRCm39) |
T93A |
probably damaging |
Het |
| Gnb1l |
T |
A |
16: 18,359,745 (GRCm39) |
I50N |
probably damaging |
Het |
| Greb1l |
A |
G |
18: 10,532,797 (GRCm39) |
Y897C |
probably damaging |
Het |
| Greb1l |
T |
C |
18: 10,558,795 (GRCm39) |
C1817R |
probably damaging |
Het |
| Ier5 |
C |
A |
1: 154,974,275 (GRCm39) |
W301L |
probably damaging |
Het |
| Irf2bp2 |
A |
G |
8: 127,318,456 (GRCm39) |
L370P |
probably benign |
Het |
| Itga9 |
T |
A |
9: 118,636,344 (GRCm39) |
N677K |
probably damaging |
Het |
| Itgb7 |
G |
T |
15: 102,132,797 (GRCm39) |
R172S |
|
Het |
| Kdm6b |
A |
T |
11: 69,292,977 (GRCm39) |
C1266* |
probably null |
Het |
| Kmt2c |
A |
T |
5: 25,489,343 (GRCm39) |
V4532E |
probably damaging |
Het |
| Kprp |
A |
C |
3: 92,732,226 (GRCm39) |
F275V |
probably damaging |
Het |
| Lrrc4 |
C |
A |
6: 28,831,595 (GRCm39) |
V7L |
probably damaging |
Het |
| Map3k21 |
G |
A |
8: 126,664,050 (GRCm39) |
R537H |
probably damaging |
Het |
| Mchr1 |
T |
G |
15: 81,119,980 (GRCm39) |
D2E |
probably benign |
Het |
| Mixl1 |
T |
C |
1: 180,522,245 (GRCm39) |
D212G |
probably damaging |
Het |
| Mup2 |
T |
C |
4: 60,139,717 (GRCm39) |
T24A |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,291,459 (GRCm39) |
D1160N |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Naip5 |
T |
C |
13: 100,358,264 (GRCm39) |
K991E |
possibly damaging |
Het |
| Ndufb11b |
T |
A |
15: 81,865,011 (GRCm39) |
M84K |
probably damaging |
Het |
| Or2p2 |
C |
T |
13: 21,256,784 (GRCm39) |
R229H |
possibly damaging |
Het |
| Or51r1 |
T |
G |
7: 102,228,433 (GRCm39) |
S244A |
probably damaging |
Het |
| Or56b1 |
C |
T |
7: 104,285,291 (GRCm39) |
R137C |
probably benign |
Het |
| Pds5a |
A |
G |
5: 65,804,479 (GRCm39) |
S527P |
possibly damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pgc |
T |
A |
17: 48,043,351 (GRCm39) |
V233E |
probably damaging |
Het |
| Pias1 |
T |
C |
9: 62,888,164 (GRCm39) |
|
probably benign |
Het |
| Pign |
A |
T |
1: 105,556,246 (GRCm39) |
W72R |
unknown |
Het |
| Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
| Proc |
A |
G |
18: 32,268,950 (GRCm39) |
S12P |
possibly damaging |
Het |
| Rida |
T |
A |
15: 34,488,823 (GRCm39) |
Q23L |
probably damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,587,025 (GRCm39) |
E406G |
possibly damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,242,625 (GRCm39) |
T238A |
probably benign |
Het |
| Spata31h1 |
T |
A |
10: 82,123,894 (GRCm39) |
S3039C |
possibly damaging |
Het |
| Spp1 |
A |
G |
5: 104,588,167 (GRCm39) |
I190V |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,628,257 (GRCm39) |
D882G |
probably damaging |
Het |
| Ssrp1 |
T |
A |
2: 84,875,811 (GRCm39) |
W557R |
probably damaging |
Het |
| Strn |
C |
G |
17: 79,043,790 (GRCm39) |
A43P |
probably benign |
Het |
| Taf6 |
A |
C |
5: 138,180,465 (GRCm39) |
Y300D |
probably damaging |
Het |
| Tesk2 |
A |
G |
4: 116,658,933 (GRCm39) |
Y270C |
probably damaging |
Het |
| Tnnt3 |
T |
A |
7: 142,065,823 (GRCm39) |
D153E |
probably benign |
Het |
| Ubl7 |
A |
G |
9: 57,826,637 (GRCm39) |
H117R |
possibly damaging |
Het |
| Vcan |
T |
A |
13: 89,839,146 (GRCm39) |
T2133S |
possibly damaging |
Het |
| Vrk2 |
T |
A |
11: 26,543,917 (GRCm39) |
|
probably benign |
Het |
| Wdr72 |
A |
C |
9: 74,125,902 (GRCm39) |
Q1011P |
possibly damaging |
Het |
| Wls |
T |
A |
3: 159,615,403 (GRCm39) |
I306N |
possibly damaging |
Het |
| Zfp654 |
A |
G |
16: 64,611,496 (GRCm39) |
S283P |
probably damaging |
Het |
| Zfp956 |
C |
T |
6: 47,939,462 (GRCm39) |
T170I |
possibly damaging |
Het |
|
| Other mutations in Nfe2l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00545:Nfe2l1
|
APN |
11 |
96,708,542 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL02676:Nfe2l1
|
APN |
11 |
96,718,491 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02868:Nfe2l1
|
APN |
11 |
96,710,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03278:Nfe2l1
|
APN |
11 |
96,713,018 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0218:Nfe2l1
|
UTSW |
11 |
96,718,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0453:Nfe2l1
|
UTSW |
11 |
96,718,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0637:Nfe2l1
|
UTSW |
11 |
96,718,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Nfe2l1
|
UTSW |
11 |
96,710,823 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4108:Nfe2l1
|
UTSW |
11 |
96,710,220 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4234:Nfe2l1
|
UTSW |
11 |
96,710,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4720:Nfe2l1
|
UTSW |
11 |
96,718,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Nfe2l1
|
UTSW |
11 |
96,712,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5319:Nfe2l1
|
UTSW |
11 |
96,710,205 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5929:Nfe2l1
|
UTSW |
11 |
96,718,185 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6263:Nfe2l1
|
UTSW |
11 |
96,708,570 (GRCm39) |
missense |
probably benign |
0.23 |
|
R6375:Nfe2l1
|
UTSW |
11 |
96,710,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Nfe2l1
|
UTSW |
11 |
96,718,161 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6705:Nfe2l1
|
UTSW |
11 |
96,718,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Nfe2l1
|
UTSW |
11 |
96,710,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7161:Nfe2l1
|
UTSW |
11 |
96,708,546 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7411:Nfe2l1
|
UTSW |
11 |
96,713,009 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7420:Nfe2l1
|
UTSW |
11 |
96,710,739 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7495:Nfe2l1
|
UTSW |
11 |
96,710,622 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7625:Nfe2l1
|
UTSW |
11 |
96,710,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8134:Nfe2l1
|
UTSW |
11 |
96,710,585 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8252:Nfe2l1
|
UTSW |
11 |
96,710,058 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8762:Nfe2l1
|
UTSW |
11 |
96,711,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Nfe2l1
|
UTSW |
11 |
96,708,620 (GRCm39) |
missense |
unknown |
|
|
R9084:Nfe2l1
|
UTSW |
11 |
96,710,957 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9251:Nfe2l1
|
UTSW |
11 |
96,710,421 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9451:Nfe2l1
|
UTSW |
11 |
96,718,453 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9472:Nfe2l1
|
UTSW |
11 |
96,710,159 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9682:Nfe2l1
|
UTSW |
11 |
96,710,944 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATCCCGGATGAGGCTGAG -3'
(R):5'- GTTGGTTACAGCTCTGACTCTG -3'
Sequencing Primer
(F):5'- GGACAGCAGCTCATTGAATTC -3'
(R):5'- GGTTACAGCTCTGACTCTGAGACC -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation