Incidental Mutation 'R3807:Nfe2l3'
ID 274966
Institutional Source Beutler Lab
Gene Symbol Nfe2l3
Ensembl Gene ENSMUSG00000029832
Gene Name nuclear factor, erythroid derived 2, like 3
Synonyms Nrf3
MMRRC Submission 040764-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3807 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 51409650-51435748 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 51434357 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 306 (R306*)
Ref Sequence ENSEMBL: ENSMUSP00000005103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005103] [ENSMUST00000069949] [ENSMUST00000090002] [ENSMUST00000160133] [ENSMUST00000203954] [ENSMUST00000204158]
AlphaFold Q9WTM4
Predicted Effect probably null
Transcript: ENSMUST00000005103
AA Change: R306*
SMART Domains Protein: ENSMUSP00000005103
Gene: ENSMUSG00000029832
AA Change: R306*

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 117 134 N/A INTRINSIC
low complexity region 145 155 N/A INTRINSIC
low complexity region 390 405 N/A INTRINSIC
BRLZ 539 603 3.68e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069949
SMART Domains Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
Pfam:HnRNPA1 245 282 5.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000090002
SMART Domains Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
low complexity region 186 295 N/A INTRINSIC
low complexity region 310 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160133
SMART Domains Protein: ENSMUSP00000124920
Gene: ENSMUSG00000029832

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 117 134 N/A INTRINSIC
low complexity region 145 155 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000203954
SMART Domains Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980

DomainStartEndE-ValueType
RRM 22 94 1.51e-23 SMART
RRM 113 185 7.64e-20 SMART
low complexity region 198 307 N/A INTRINSIC
low complexity region 322 353 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204158
SMART Domains Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980

DomainStartEndE-ValueType
RRM 10 82 1.51e-23 SMART
RRM 101 173 7.64e-20 SMART
Pfam:HnRNPA1 245 282 9.5e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204885
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A T 8: 112,717,002 (GRCm39) W2R probably damaging Het
Arhgap42 A G 9: 9,008,034 (GRCm39) I563T probably damaging Het
Armcx1 T C X: 133,622,014 (GRCm39) V372A probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Bpifb1 C A 2: 154,055,922 (GRCm39) N329K probably benign Het
Ccdc113 A T 8: 96,269,281 (GRCm39) N193I probably damaging Het
Cebpz A T 17: 79,242,847 (GRCm39) L269Q probably damaging Het
Cttn C T 7: 143,999,588 (GRCm39) V290M probably damaging Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dmbt1 T A 7: 130,713,819 (GRCm39) M1455K possibly damaging Het
Eme1 A G 11: 94,541,418 (GRCm39) W135R probably damaging Het
Entpd7 T G 19: 43,713,979 (GRCm39) probably null Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Erich1 T C 8: 14,083,695 (GRCm39) N125S probably benign Het
Fam149a T A 8: 45,834,647 (GRCm39) T51S possibly damaging Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Frem2 A T 3: 53,560,870 (GRCm39) D1212E probably benign Het
Garin3 G A 11: 46,295,780 (GRCm39) A51T possibly damaging Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Gm11595 C T 11: 99,663,380 (GRCm39) R100H unknown Het
Gria1 T C 11: 57,201,504 (GRCm39) W712R probably damaging Het
Herc2 A G 7: 55,857,557 (GRCm39) N4047D probably damaging Het
Hoxc9 A G 15: 102,890,116 (GRCm39) Y11C possibly damaging Het
Lama2 GCCC GCC 10: 27,066,661 (GRCm39) probably null Het
Lrrc56 A G 7: 140,789,298 (GRCm39) T393A probably benign Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Med14 T C X: 12,553,416 (GRCm39) Y463C probably damaging Het
Nalcn T A 14: 123,515,599 (GRCm39) D1734V probably damaging Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,810 (GRCm39) probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Npr1 A T 3: 90,366,033 (GRCm39) V586E probably damaging Het
Or2d2b A G 7: 106,705,670 (GRCm39) S133P probably benign Het
Or5h24 A C 16: 58,919,206 (GRCm39) *50G probably null Het
Pcdhb4 T C 18: 37,442,367 (GRCm39) F559S probably damaging Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Psme4 T A 11: 30,806,027 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rgs11 A T 17: 26,422,474 (GRCm39) I69F probably damaging Het
Ryr1 C T 7: 28,719,577 (GRCm39) A4277T probably damaging Het
Setbp1 C T 18: 78,826,537 (GRCm39) V1359I probably benign Het
Sis A T 3: 72,832,929 (GRCm39) V956E probably benign Het
Slc35f3 T A 8: 127,115,978 (GRCm39) W302R probably damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Tdp2 C A 13: 25,015,776 (GRCm39) S21* probably null Het
Tfrc A T 16: 32,435,644 (GRCm39) N173I possibly damaging Het
Tmem132b A T 5: 125,864,644 (GRCm39) I917F probably damaging Het
Vbp1 T C X: 74,566,948 (GRCm39) V122A probably damaging Het
Vmn1r225 G A 17: 20,723,114 (GRCm39) W185* probably null Het
Vmn1r70 A G 7: 10,367,715 (GRCm39) T68A probably benign Het
Zfp518a A G 19: 40,903,241 (GRCm39) K1057E possibly damaging Het
Other mutations in Nfe2l3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02705:Nfe2l3 APN 6 51,410,098 (GRCm39) missense probably damaging 0.96
IGL02803:Nfe2l3 APN 6 51,434,291 (GRCm39) missense possibly damaging 0.50
R0277:Nfe2l3 UTSW 6 51,434,448 (GRCm39) missense probably benign 0.30
R0693:Nfe2l3 UTSW 6 51,410,034 (GRCm39) missense possibly damaging 0.94
R1397:Nfe2l3 UTSW 6 51,410,274 (GRCm39) missense probably benign 0.00
R1455:Nfe2l3 UTSW 6 51,434,744 (GRCm39) missense possibly damaging 0.91
R1541:Nfe2l3 UTSW 6 51,434,585 (GRCm39) missense probably damaging 0.98
R1753:Nfe2l3 UTSW 6 51,410,392 (GRCm39) missense probably null 0.96
R1946:Nfe2l3 UTSW 6 51,434,295 (GRCm39) missense probably damaging 1.00
R2034:Nfe2l3 UTSW 6 51,435,350 (GRCm39) missense possibly damaging 0.50
R3932:Nfe2l3 UTSW 6 51,433,595 (GRCm39) missense possibly damaging 0.94
R4271:Nfe2l3 UTSW 6 51,433,614 (GRCm39) missense probably damaging 0.99
R4604:Nfe2l3 UTSW 6 51,427,992 (GRCm39) missense probably damaging 0.99
R4816:Nfe2l3 UTSW 6 51,433,604 (GRCm39) missense probably damaging 0.99
R5765:Nfe2l3 UTSW 6 51,434,226 (GRCm39) missense probably damaging 1.00
R5893:Nfe2l3 UTSW 6 51,434,832 (GRCm39) missense probably damaging 1.00
R7378:Nfe2l3 UTSW 6 51,434,276 (GRCm39) nonsense probably null
R7490:Nfe2l3 UTSW 6 51,434,524 (GRCm39) missense possibly damaging 0.65
R7624:Nfe2l3 UTSW 6 51,435,252 (GRCm39) missense probably damaging 1.00
R8210:Nfe2l3 UTSW 6 51,428,065 (GRCm39) missense probably benign 0.00
R8678:Nfe2l3 UTSW 6 51,435,153 (GRCm39) missense possibly damaging 0.54
R9071:Nfe2l3 UTSW 6 51,434,243 (GRCm39) missense probably benign 0.01
R9146:Nfe2l3 UTSW 6 51,410,172 (GRCm39) missense probably damaging 0.99
R9625:Nfe2l3 UTSW 6 51,434,925 (GRCm39) missense probably damaging 0.99
Z1177:Nfe2l3 UTSW 6 51,410,277 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- CGTAAGACTATTAGCAATGGAACTG -3'
(R):5'- ACCTGTGGCCAATGACATTAG -3'

Sequencing Primer
(F):5'- GCAATGGAACTGTTTGAAATAGTG -3'
(R):5'- GTGGCCAATGACATTAGGTTTATTCC -3'
Posted On 2015-04-02