Incidental Mutation 'R7495:Nfe2l1'
ID 581043
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 045568-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7495 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 96708240-96720794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96710622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 536 (Y536H)
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 possibly damaging
Transcript: ENSMUST00000081775
AA Change: Y536H

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615
AA Change: Y536H

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 possibly damaging
Transcript: ENSMUST00000107657
AA Change: Y536H

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615
AA Change: Y536H

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 possibly damaging
Transcript: ENSMUST00000107658
AA Change: Y536H

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615
AA Change: Y536H

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: Y536H

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000103286
Gene: ENSMUSG00000038615
AA Change: Y536H

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 probably benign
Transcript: ENSMUST00000142065
SMART Domains Protein: ENSMUSP00000121423
Gene: ENSMUSG00000038615

DomainStartEndE-ValueType
PDB:3WN7|M 14 48 1e-10 PDB
Predicted Effect possibly damaging
Transcript: ENSMUST00000167110
AA Change: Y378H

PolyPhen 2 Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000127804
Gene: ENSMUSG00000038615
AA Change: Y378H

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 possibly damaging
Transcript: ENSMUST00000167149
AA Change: Y536H

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615
AA Change: Y536H

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 possibly damaging
Transcript: ENSMUST00000169828
AA Change: Y248H

PolyPhen 2 Score 0.542 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000131585
Gene: ENSMUSG00000038615
AA Change: Y248H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,915,871 (GRCm39) E1251G probably damaging Het
Apba1 T C 19: 23,913,963 (GRCm39) probably null Het
Arap2 C T 5: 62,833,893 (GRCm39) S858N possibly damaging Het
Capn10 T C 1: 92,871,092 (GRCm39) F301L probably damaging Het
Catip T C 1: 74,401,851 (GRCm39) W9R probably benign Het
Cfap46 A G 7: 139,183,112 (GRCm39) probably null Het
Cpq C T 15: 33,302,586 (GRCm39) R246C probably damaging Het
Dgkh A G 14: 78,816,239 (GRCm39) S1067P probably benign Het
Dpp3 T C 19: 4,967,941 (GRCm39) E316G probably damaging Het
Dpp9 T C 17: 56,502,044 (GRCm39) Q508R probably benign Het
Frem2 T C 3: 53,424,258 (GRCm39) N3060D probably benign Het
Fstl5 A G 3: 76,615,099 (GRCm39) Y720C possibly damaging Het
Gm28168 T C 1: 117,875,637 (GRCm39) S89P possibly damaging Het
Hk2 C T 6: 82,704,346 (GRCm39) G900E probably damaging Het
Hrh1 A C 6: 114,457,634 (GRCm39) D305A probably benign Het
Htt C T 5: 34,968,821 (GRCm39) S435L probably benign Het
Ice2 G T 9: 69,323,511 (GRCm39) V669L probably benign Het
Klk1b27 G A 7: 43,705,500 (GRCm39) V191I probably benign Het
Med12l A G 3: 59,152,194 (GRCm39) K993R probably damaging Het
Nr4a2 T C 2: 57,002,171 (GRCm39) D94G possibly damaging Het
Oit3 T C 10: 59,259,765 (GRCm39) D546G possibly damaging Het
Paxbp1 T C 16: 90,813,837 (GRCm39) T847A probably damaging Het
Pde12 A T 14: 26,389,994 (GRCm39) N238K probably benign Het
Pfkfb3 A C 2: 11,487,312 (GRCm39) I366S probably damaging Het
Ptma GGAAGAAG GGAAGAAGAAG 1: 86,457,261 (GRCm39) probably benign Het
Ptprb C A 10: 116,177,353 (GRCm39) Q1018K probably benign Het
Rxfp3 C A 15: 11,036,011 (GRCm39) G454C probably damaging Het
Scn5a A G 9: 119,372,200 (GRCm39) V223A probably damaging Het
Sema4c C A 1: 36,589,774 (GRCm39) V527L probably benign Het
Slk C A 19: 47,627,417 (GRCm39) P1182T probably damaging Het
Stt3a A G 9: 36,659,235 (GRCm39) V368A probably benign Het
Trpm3 T C 19: 22,875,160 (GRCm39) F601L probably benign Het
Ttn T C 2: 76,540,299 (GRCm39) D34229G probably benign Het
Vmn2r107 A G 17: 20,595,271 (GRCm39) H608R possibly damaging Het
Vmn2r49 A T 7: 9,710,826 (GRCm39) C635* probably null Het
Zfp473 A T 7: 44,387,368 (GRCm39) F95Y probably benign Het
Zfp984 A C 4: 147,839,287 (GRCm39) S521R 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
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
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'- GAATGGGATCTTCATGGCTCG -3'
(R):5'- CTCTCTGAGCAGCTCTGAAG -3'

Sequencing Primer
(F):5'- GATCTTCATGGCTCGGGCTC -3'
(R):5'- GAAGGGAGCTCTTCTTCTTCC -3'
Posted On 2019-10-17