Incidental Mutation 'R4720:Nfe2l1'
ID 354388
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 041958-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4720 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 96708240-96720794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96718515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 7 (Y7N)
Ref Sequence ENSEMBL: ENSMUSP00000128527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081775] [ENSMUST00000107657] [ENSMUST00000107658] [ENSMUST00000107659] [ENSMUST00000126949] [ENSMUST00000167149] [ENSMUST00000167110] [ENSMUST00000169828] [ENSMUST00000142065]
AlphaFold Q61985
Predicted Effect probably damaging
Transcript: ENSMUST00000081775
AA Change: Y7N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615
AA Change: Y7N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000107657
AA Change: Y7N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615
AA Change: Y7N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000107658
AA Change: Y7N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615
AA Change: Y7N

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000107659
AA Change: Y7N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000103286
Gene: ENSMUSG00000038615
AA Change: Y7N

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1e5xa_ 22 65 4e-3 SMART
low complexity region 114 127 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134951
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135836
Predicted Effect probably damaging
Transcript: ENSMUST00000167149
AA Change: Y7N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615
AA Change: Y7N

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000140138
Predicted Effect probably benign
Transcript: ENSMUST00000167110
SMART Domains Protein: ENSMUSP00000127804
Gene: ENSMUSG00000038615

DomainStartEndE-ValueType
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: ENSMUST00000169828
SMART Domains Protein: ENSMUSP00000131585
Gene: ENSMUSG00000038615

DomainStartEndE-ValueType
low complexity region 114 127 N/A INTRINSIC
low complexity region 157 204 N/A INTRINSIC
BRLZ 333 397 9.8e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142065
SMART Domains Protein: ENSMUSP00000121423
Gene: ENSMUSG00000038615

DomainStartEndE-ValueType
PDB:3WN7|M 14 48 1e-10 PDB
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,018,248 (GRCm39) I1124T probably damaging Het
Acacb A G 5: 114,367,975 (GRCm39) T1658A possibly damaging Het
Acvrl1 C A 15: 101,033,654 (GRCm39) P112Q probably damaging Het
Ankar A T 1: 72,738,170 (GRCm39) I4K possibly damaging Het
Ankfn1 G C 11: 89,332,252 (GRCm39) D431E possibly damaging Het
Apobec4 T C 1: 152,632,425 (GRCm39) V151A possibly damaging Het
Atp10b A G 11: 43,093,949 (GRCm39) S498G probably benign Het
Azin1 A G 15: 38,493,744 (GRCm39) V293A probably benign Het
Ccdc88b T C 19: 6,835,083 (GRCm39) E46G probably damaging Het
Ccdc96 T C 5: 36,642,219 (GRCm39) probably benign Het
Ccnyl1 A G 1: 64,752,290 (GRCm39) D169G probably benign Het
Cdca3 T A 6: 124,809,127 (GRCm39) V89E probably damaging Het
Cdh19 A T 1: 110,823,111 (GRCm39) probably null Het
Chka G A 19: 3,936,375 (GRCm39) V238I probably damaging Het
Cntn3 T C 6: 102,218,983 (GRCm39) K546E possibly damaging Het
Crybg3 A G 16: 59,360,180 (GRCm39) V787A probably damaging Het
Dlgap3 T C 4: 127,089,508 (GRCm39) probably null Het
Dnah8 C T 17: 30,902,608 (GRCm39) L889F probably benign Het
Dnah9 T C 11: 65,967,184 (GRCm39) E1658G probably damaging Het
Dnajc11 A G 4: 152,052,996 (GRCm39) D102G probably damaging Het
Dync1i2 T G 2: 71,064,018 (GRCm39) S121A probably damaging Het
Ece1 G A 4: 137,684,486 (GRCm39) E591K probably damaging Het
Enthd1 G A 15: 80,444,510 (GRCm39) S15L probably damaging Het
Epb41l2 T A 10: 25,347,524 (GRCm39) H372Q probably damaging Het
Errfi1 T A 4: 150,951,204 (GRCm39) Y211N probably damaging Het
Fam193b G A 13: 55,691,250 (GRCm39) T208M probably benign Het
Flacc1 T C 1: 58,717,507 (GRCm39) I135V possibly damaging Het
Fmnl2 C T 2: 52,997,552 (GRCm39) T501M possibly damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm4841 G T 18: 60,403,135 (GRCm39) D319E probably benign Het
Gucd1 A G 10: 75,345,494 (GRCm39) F187S probably damaging Het
Hcar2 GCGGATGCGCAC GC 5: 124,002,752 (GRCm39) probably null Het
Helz2 T C 2: 180,880,210 (GRCm39) D502G probably damaging Het
Hspa2 A G 12: 76,451,639 (GRCm39) E111G possibly damaging Het
Htr2a T A 14: 74,882,499 (GRCm39) S162T probably damaging Het
Ift80 A G 3: 68,869,623 (GRCm39) Y223H possibly damaging Het
Il1rl1 A G 1: 40,485,838 (GRCm39) K330E probably benign Het
Il23r A T 6: 67,400,645 (GRCm39) F562I probably damaging Het
Isx T C 8: 75,600,487 (GRCm39) probably null Het
Jcad G A 18: 4,674,055 (GRCm39) V606I probably benign Het
Kcnn2 A T 18: 45,816,187 (GRCm39) T333S possibly damaging Het
Kcnq5 C T 1: 21,473,274 (GRCm39) A630T probably damaging Het
Kif2c T C 4: 117,028,946 (GRCm39) M188V probably benign Het
Kntc1 T C 5: 123,903,086 (GRCm39) V321A possibly damaging Het
Krtap4-8 A T 11: 99,671,271 (GRCm39) probably benign Het
Lcor G C 19: 41,574,334 (GRCm39) A1030P probably benign Het
Lgals3bp A C 11: 118,289,295 (GRCm39) L52R probably damaging Het
Lipk C A 19: 33,999,099 (GRCm39) H126Q probably damaging Het
Lpgat1 T C 1: 191,495,779 (GRCm39) Y323H probably damaging Het
Lrp2 T G 2: 69,311,517 (GRCm39) N2654H probably damaging Het
Lsm14b C T 2: 179,669,774 (GRCm39) Q6* probably null Het
Lysmd3 C T 13: 81,817,584 (GRCm39) A187V possibly damaging Het
Map2k5 A G 9: 63,201,001 (GRCm39) S211P probably damaging Het
Mlph A T 1: 90,869,419 (GRCm39) I474F probably damaging Het
Mpped2 T C 2: 106,614,091 (GRCm39) S142P probably damaging Het
Nemf A C 12: 69,371,062 (GRCm39) M678R probably benign Het
Nfkbie T G 17: 45,867,232 (GRCm39) D122E probably benign Het
Noc3l C A 19: 38,778,066 (GRCm39) A783S probably benign Het
Nol8 T C 13: 49,816,229 (GRCm39) V761A probably damaging Het
Nvl A G 1: 180,929,152 (GRCm39) L743P probably damaging Het
Or1j1 T A 2: 36,702,484 (GRCm39) I207F probably benign Het
Plcb1 A G 2: 135,093,667 (GRCm39) K160R possibly damaging Het
Plekhg3 G T 12: 76,625,096 (GRCm39) G1313C possibly damaging Het
Plekhh1 GTCAAA G 12: 79,122,194 (GRCm39) probably null Het
Popdc3 G A 10: 45,191,002 (GRCm39) V38I probably benign Het
Prdx3 A T 19: 60,858,551 (GRCm39) V114D possibly damaging Het
Prkdc T A 16: 15,485,579 (GRCm39) S469T probably benign Het
Rbm22 G A 18: 60,697,463 (GRCm39) R56H probably damaging Het
Reln A T 5: 22,491,894 (GRCm39) F113I possibly damaging Het
Rims1 A G 1: 22,497,731 (GRCm39) Y808H probably damaging Het
Rsbn1 C A 3: 103,836,336 (GRCm39) T458N possibly damaging Het
Serpina3b A G 12: 104,096,889 (GRCm39) S57G possibly damaging Het
Skor2 G T 18: 76,948,878 (GRCm39) probably null Het
Slc22a4 A T 11: 53,879,719 (GRCm39) Y447N probably damaging Het
Slco1a7 C A 6: 141,668,948 (GRCm39) A495S probably damaging Het
Stx19 G T 16: 62,642,682 (GRCm39) R166L probably damaging Het
Svep1 T C 4: 58,205,869 (GRCm39) T170A possibly damaging Het
Sycp2 T G 2: 178,016,225 (GRCm39) S746R probably benign Het
Tchh G T 3: 93,355,189 (GRCm39) R1543L unknown Het
Tjp2 T C 19: 24,078,169 (GRCm39) D908G probably damaging Het
Ttc8 C A 12: 98,946,068 (GRCm39) A452E possibly damaging Het
Unc5a T A 13: 55,151,696 (GRCm39) W709R probably null Het
Unc80 T A 1: 66,549,951 (GRCm39) S736R possibly damaging Het
Vmn2r100 C A 17: 19,742,788 (GRCm39) H387Q probably benign Het
Vmn2r39 C T 7: 9,026,469 (GRCm39) probably null Het
Vmn2r88 T A 14: 51,650,702 (GRCm39) D138E probably benign Het
Vwce T C 19: 10,625,831 (GRCm39) F448L possibly damaging Het
Wdr75 C T 1: 45,861,645 (GRCm39) S695F probably benign Het
Zfand4 T C 6: 116,265,122 (GRCm39) probably null Het
Zfp511 T A 7: 139,617,424 (GRCm39) probably null Het
Zfyve9 T C 4: 108,501,565 (GRCm39) K584E possibly damaging Het
Other mutations in Nfe2l1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9074:Nfe2l1 UTSW 11 96,710,573 (GRCm39) missense possibly damaging 0.51
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'- ATCCCATAGCCATCCAAGGTATTC -3'
(R):5'- GTGAATGTGGCTTTCGCTCC -3'

Sequencing Primer
(F):5'- TAGCCATCCAAGGTATTCCTCAGG -3'
(R):5'- TTTCGCTCCACGGGGTG -3'
Posted On 2015-10-21