Incidental Mutation 'R5102:Nfe2l1'
ID 392435
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 042690-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5102 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 96708240-96720794 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 96712934 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 83 (A83V)
Ref Sequence ENSEMBL: ENSMUSP00000127804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081775] [ENSMUST00000107657] [ENSMUST00000107658] [ENSMUST00000107659] [ENSMUST00000126949] [ENSMUST00000142065] [ENSMUST00000167149] [ENSMUST00000167110] [ENSMUST00000169828]
AlphaFold Q61985
Predicted Effect probably benign
Transcript: ENSMUST00000081775
AA Change: A241V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615
AA Change: A241V

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 benign
Transcript: ENSMUST00000107657
AA Change: A241V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615
AA Change: A241V

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 benign
Transcript: ENSMUST00000107658
AA Change: A241V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615
AA Change: A241V

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 benign
Transcript: ENSMUST00000107659
AA Change: A241V

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000103286
Gene: ENSMUSG00000038615
AA Change: A241V

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 probably benign
Transcript: ENSMUST00000142065
AA Change: A83V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000121423
Gene: ENSMUSG00000038615
AA Change: A83V

DomainStartEndE-ValueType
PDB:3WN7|M 14 48 1e-10 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000167149
AA Change: A241V

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615
AA Change: A241V

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: ENSMUST00000167110
AA Change: A83V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127804
Gene: ENSMUSG00000038615
AA Change: A83V

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 noncoding transcript
Transcript: ENSMUST00000140138
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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 91.3%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aox4 C T 1: 58,279,937 (GRCm39) R518C probably damaging Het
Apbb2 A T 5: 66,469,592 (GRCm39) probably null Het
Arhgap45 C T 10: 79,857,262 (GRCm39) P254S probably benign Het
Arl4c T C 1: 88,629,322 (GRCm39) D22G probably damaging Het
Asxl1 A G 2: 153,242,875 (GRCm39) T1142A probably benign Het
BC035044 T C 6: 128,861,949 (GRCm39) probably benign Het
Bmp4 T C 14: 46,621,458 (GRCm39) N362S probably damaging Het
Cbll1 G T 12: 31,537,912 (GRCm39) T280N probably damaging Het
Cdh10 A T 15: 18,986,971 (GRCm39) T401S probably benign Het
Cmklr2 A G 1: 63,222,326 (GRCm39) V303A probably damaging Het
Cps1 A T 1: 67,245,952 (GRCm39) M1148L probably benign Het
Crybg1 T C 10: 43,873,832 (GRCm39) D1092G probably damaging Het
Cyth2 A G 7: 45,460,126 (GRCm39) S173P probably damaging Het
D6Ertd527e A T 6: 87,088,793 (GRCm39) I319F unknown Het
Dchs1 A T 7: 105,421,384 (GRCm39) H345Q probably benign Het
Ddx50 A T 10: 62,476,640 (GRCm39) V211E probably damaging Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Dnajb5 G A 4: 42,956,639 (GRCm39) D109N possibly damaging Het
Dner A T 1: 84,383,691 (GRCm39) N564K probably damaging Het
Fam234b T C 6: 135,186,282 (GRCm39) S97P probably benign Het
Fam53b G A 7: 132,317,684 (GRCm39) R60* probably null Het
Fmo3 T G 1: 162,791,546 (GRCm39) K244Q probably benign Het
Golim4 A G 3: 75,810,579 (GRCm39) I192T possibly damaging Het
Gprin1 T C 13: 54,887,576 (GRCm39) M233V probably benign Het
Gtf2f1 A T 17: 57,310,626 (GRCm39) V443D probably damaging Het
Hmgcs2 T C 3: 98,187,786 (GRCm39) probably benign Het
Ide T A 19: 37,292,383 (GRCm39) I271L unknown Het
Kat8 G A 7: 127,523,988 (GRCm39) E343K probably damaging Het
Kif14 A G 1: 136,444,141 (GRCm39) I1378V probably benign Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Lhx6 T C 2: 35,984,222 (GRCm39) probably null Het
Lrp2 C T 2: 69,319,502 (GRCm39) G2007D probably damaging Het
Lrp5 T C 19: 3,709,304 (GRCm39) K142R probably damaging Het
Macroh2a1 C G 13: 56,243,936 (GRCm39) probably null Het
Mrpl2 G A 17: 46,960,964 (GRCm39) R286Q probably benign Het
Mtrfr A G 5: 124,476,954 (GRCm39) N83D probably damaging Het
Nacad T A 11: 6,548,528 (GRCm39) D1402V probably damaging Het
Ndfip2 T C 14: 105,535,539 (GRCm39) I275T possibly damaging Het
Neb A C 2: 52,116,582 (GRCm39) V4131G possibly damaging Het
Nos3 A G 5: 24,576,625 (GRCm39) D418G probably damaging Het
Or12e7 A T 2: 87,288,138 (GRCm39) M210L probably benign Het
Or1n1b T A 2: 36,780,056 (GRCm39) K268M possibly damaging Het
Plcd4 A G 1: 74,604,313 (GRCm39) T764A probably damaging Het
Plppr3 G T 10: 79,701,220 (GRCm39) P541T possibly damaging Het
Polr2a A G 11: 69,637,771 (GRCm39) I191T possibly damaging Het
Pramel18 T C 4: 101,766,436 (GRCm39) F40S probably damaging Het
Rab11fip1 T C 8: 27,646,402 (GRCm39) K225E probably damaging Het
Rara A T 11: 98,857,185 (GRCm39) Q64L possibly damaging Het
Rtkn G A 6: 83,126,754 (GRCm39) V305M probably damaging Het
Sh2b1 A C 7: 126,070,408 (GRCm39) F399V probably benign Het
Slc7a4 T C 16: 17,393,482 (GRCm39) T106A probably damaging Het
Srcap G A 7: 127,129,795 (GRCm39) G539D probably damaging Het
Stab1 C T 14: 30,869,974 (GRCm39) probably null Het
Zfp267 G A 3: 36,216,814 (GRCm39) C55Y 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
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'- ACACTTTGCCTGTCTGCAG -3'
(R):5'- GCGACAGGATATTGATCTGGGG -3'

Sequencing Primer
(F):5'- ACTGTCAAGACCTAGTGCTTCTGAG -3'
(R):5'- CAGGATATTGATCTGGGGGCTGG -3'
Posted On 2016-06-15