Incidental Mutation 'R1892:Nrf1'
ID 211587
Institutional Source Beutler Lab
Gene Symbol Nrf1
Ensembl Gene ENSMUSG00000058440
Gene Name nuclear respiratory factor 1
Synonyms D6Ertd415e
MMRRC Submission 039912-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1892 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 30047987-30153457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30144787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 519 (D519G)
Ref Sequence ENSEMBL: ENSMUSP00000110860 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069808] [ENSMUST00000069808] [ENSMUST00000115204] [ENSMUST00000115206] [ENSMUST00000115206] [ENSMUST00000115208] [ENSMUST00000115209] [ENSMUST00000170535] [ENSMUST00000115212] [ENSMUST00000167972] [ENSMUST00000115211]
AlphaFold Q9WU00
Predicted Effect probably null
Transcript: ENSMUST00000069808
AA Change: D519G
SMART Domains Protein: ENSMUSP00000065568
Gene: ENSMUSG00000058440
AA Change: D519G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 283 1.1e-119 PFAM
low complexity region 285 294 N/A INTRINSIC
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:YchF-GTPase_C 448 526 2.2e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000069808
AA Change: D519G
SMART Domains Protein: ENSMUSP00000065568
Gene: ENSMUSG00000058440
AA Change: D519G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 283 1.1e-119 PFAM
low complexity region 285 294 N/A INTRINSIC
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:YchF-GTPase_C 448 526 2.2e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083409
Predicted Effect probably benign
Transcript: ENSMUST00000115204
SMART Domains Protein: ENSMUSP00000110858
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.2e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000115206
AA Change: D519G
SMART Domains Protein: ENSMUSP00000110860
Gene: ENSMUSG00000058440
AA Change: D519G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 3.3e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:YchF-GTPase_C 448 526 3.9e-34 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000115206
AA Change: D519G
SMART Domains Protein: ENSMUSP00000110860
Gene: ENSMUSG00000058440
AA Change: D519G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 3.3e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:YchF-GTPase_C 448 526 3.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115208
SMART Domains Protein: ENSMUSP00000110863
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 1.6e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115209
SMART Domains Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.9e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:Nrf1_activ_bdg 449 503 1.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000170535
SMART Domains Protein: ENSMUSP00000132637
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.2e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115212
SMART Domains Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.9e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:Nrf1_activ_bdg 449 503 1.2e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167972
SMART Domains Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.9e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:Nrf1_activ_bdg 449 503 1.2e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000132866
SMART Domains Protein: ENSMUSP00000114451
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
Pfam:Nrf1_DNA-bind 1 22 1.1e-9 PFAM
low complexity region 24 33 N/A INTRINSIC
low complexity region 116 133 N/A INTRINSIC
low complexity region 148 162 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115211
SMART Domains Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2.9e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
Pfam:Nrf1_activ_bdg 449 503 1.2e-9 PFAM
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that homodimerizes and functions as a transcription factor which activates the expression of some key metabolic genes regulating cellular growth and nuclear genes required for respiration, heme biosynthesis, and mitochondrial DNA transcription and replication. The protein has also been associated with the regulation of neurite outgrowth. Alternative splicing results in multiple transcript variants. Confusion has occurred in bibliographic databases due to the shared symbol of NRF1 for this gene and for "nuclear factor (erythroid-derived 2)-like 1" which has an official symbol of NFE2L1. [provided by RefSeq, May 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality between E3.5 and E6.5 associated with decreased cellular proliferation and mitochondrial DNA content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Adat3 T C 10: 80,442,249 (GRCm39) L29P probably damaging Het
AI987944 A T 7: 41,024,020 (GRCm39) C320S probably damaging Het
Asic4 C T 1: 75,446,126 (GRCm39) R285W probably damaging Het
Asic5 A T 3: 81,928,293 (GRCm39) I419L probably damaging Het
Batf A G 12: 85,736,102 (GRCm39) K42E probably damaging Het
Bcar3 A G 3: 122,301,785 (GRCm39) N160S probably benign Het
Bco2 C A 9: 50,461,863 (GRCm39) G47V probably damaging Het
Bicc1 T G 10: 70,794,614 (GRCm39) K181T probably damaging Het
Brinp2 A G 1: 158,082,542 (GRCm39) probably null Het
Cacng8 A G 7: 3,463,568 (GRCm39) D240G possibly damaging Het
Calca A G 7: 114,232,962 (GRCm39) Y96H probably damaging Het
Cdh1 A T 8: 107,390,882 (GRCm39) K666I possibly damaging Het
Cdh16 A T 8: 105,344,631 (GRCm39) I500N possibly damaging Het
Chst14 A G 2: 118,757,830 (GRCm39) Y208C probably damaging Het
Chst9 T C 18: 15,586,017 (GRCm39) H182R probably damaging Het
Clk2 A G 3: 89,082,502 (GRCm39) I367M possibly damaging Het
Cobl G C 11: 12,203,258 (GRCm39) S1066W probably damaging Het
Ctcfl A G 2: 172,960,478 (GRCm39) V35A probably benign Het
Dchs1 G T 7: 105,413,363 (GRCm39) H1151N probably benign Het
Dennd1c T C 17: 57,374,083 (GRCm39) T529A probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dync1h1 A G 12: 110,612,738 (GRCm39) Y2871C probably damaging Het
Dytn T C 1: 63,716,420 (GRCm39) E51G probably benign Het
Esd C T 14: 74,987,113 (GRCm39) A266V probably damaging Het
Gli1 T C 10: 127,165,975 (GRCm39) M1093V possibly damaging Het
Gm15446 A G 5: 110,091,253 (GRCm39) K502E probably damaging Het
Gm4076 T A 13: 85,275,447 (GRCm39) noncoding transcript Het
Gm9830 A G 9: 44,375,825 (GRCm39) noncoding transcript Het
Gm9938 G A 19: 23,701,955 (GRCm39) probably benign Het
Grhl1 G A 12: 24,634,909 (GRCm39) R245H probably damaging Het
Hnrnpul1 A T 7: 25,426,191 (GRCm39) D553E probably benign Het
Hpn G A 7: 30,798,468 (GRCm39) Q415* probably null Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il1rl2 A G 1: 40,366,694 (GRCm39) H76R probably damaging Het
Insrr G A 3: 87,721,184 (GRCm39) V1112M probably damaging Het
Ints9 T C 14: 65,257,872 (GRCm39) S351P probably benign Het
Itgav T A 2: 83,601,680 (GRCm39) N350K probably damaging Het
Kdm4d C A 9: 14,375,613 (GRCm39) V82L probably benign Het
Klc1 T C 12: 111,748,261 (GRCm39) probably null Het
Kmt5c T A 7: 4,745,714 (GRCm39) C69* probably null Het
Lgals3 T G 14: 47,622,164 (GRCm39) N193K possibly damaging Het
Morc2b T A 17: 33,354,748 (GRCm39) D1008V probably damaging Het
Mpg C T 11: 32,181,720 (GRCm39) Q243* probably null Het
Muc15 C T 2: 110,567,697 (GRCm39) R281* probably null Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nek5 A G 8: 22,597,745 (GRCm39) M278T probably benign Het
Npas2 A G 1: 39,384,503 (GRCm39) T599A probably benign Het
Nup43 A G 10: 7,549,373 (GRCm39) H176R probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or10j3 T C 1: 173,031,795 (GRCm39) Y291H probably damaging Het
Or5p72 A T 7: 108,022,147 (GRCm39) Y123F possibly damaging Het
Or6c75 A C 10: 129,336,902 (GRCm39) I50L probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Pik3ip1 G T 11: 3,283,304 (GRCm39) A135S probably damaging Het
Pira13 A C 7: 3,827,573 (GRCm39) C195G probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Prepl A G 17: 85,395,878 (GRCm39) Y35H possibly damaging Het
Ptpn13 A G 5: 103,649,545 (GRCm39) Y316C possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Ranbp2 T C 10: 58,299,921 (GRCm39) V491A probably benign Het
Ranbp9 C A 13: 43,569,933 (GRCm39) C495F possibly damaging Het
Rfx8 A T 1: 39,709,746 (GRCm39) probably null Het
Rnf111 T A 9: 70,383,656 (GRCm39) K92N probably damaging Het
Rtn1 A G 12: 72,259,337 (GRCm39) I772T probably damaging Het
Ryr2 T A 13: 11,673,844 (GRCm39) K72* probably null Het
Sergef A T 7: 46,264,040 (GRCm39) probably null Het
Sez6l T C 5: 112,620,665 (GRCm39) N305S probably damaging Het
Slc40a1 A T 1: 45,950,302 (GRCm39) C383* probably null Het
Stab2 C T 10: 86,773,913 (GRCm39) C806Y probably damaging Het
Stard9 A G 2: 120,524,189 (GRCm39) T795A probably benign Het
Stk31 T C 6: 49,415,408 (GRCm39) I536T probably damaging Het
Stox1 T A 10: 62,501,178 (GRCm39) T461S possibly damaging Het
Suv39h2 T C 2: 3,460,805 (GRCm39) Y219C probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Tbc1d2b T A 9: 90,100,996 (GRCm39) I665F probably damaging Het
Tdrd6 T C 17: 43,935,696 (GRCm39) N1784S probably benign Het
Tmem14c T C 13: 41,174,633 (GRCm39) F81L possibly damaging Het
Tnrc6c A G 11: 117,605,188 (GRCm39) N108D probably benign Het
Tox3 A T 8: 90,996,869 (GRCm39) N131K probably benign Het
Tspear T A 10: 77,706,308 (GRCm39) D359E probably benign Het
Ttc9 A G 12: 81,678,551 (GRCm39) I125V probably benign Het
Ttn A T 2: 76,728,531 (GRCm39) probably benign Het
Ubn2 C T 6: 38,468,226 (GRCm39) S980F probably damaging Het
Vcf1 G T 11: 113,554,212 (GRCm39) P161H probably damaging Het
Zfp362 T A 4: 128,684,057 (GRCm39) T30S probably benign Het
Zfp385c A C 11: 100,528,630 (GRCm39) H32Q probably damaging Het
Zfp870 A T 17: 33,102,863 (GRCm39) H156Q possibly damaging Het
Zfp873 T C 10: 81,897,080 (GRCm39) C641R probably damaging Het
Zfp950 A T 19: 61,107,549 (GRCm39) H511Q probably benign Het
Other mutations in Nrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Nrf1 APN 6 30,098,477 (GRCm39) missense probably damaging 1.00
IGL00909:Nrf1 APN 6 30,098,477 (GRCm39) missense probably damaging 1.00
IGL01556:Nrf1 APN 6 30,126,366 (GRCm39) intron probably benign
IGL02371:Nrf1 APN 6 30,118,990 (GRCm39) missense possibly damaging 0.90
IGL03345:Nrf1 APN 6 30,089,947 (GRCm39) missense probably damaging 0.99
R4097:Nrf1 UTSW 6 30,151,671 (GRCm39) nonsense probably null
R5347:Nrf1 UTSW 6 30,118,967 (GRCm39) missense probably benign 0.05
R5607:Nrf1 UTSW 6 30,126,245 (GRCm39) missense probably damaging 1.00
R5654:Nrf1 UTSW 6 30,117,061 (GRCm39) missense probably benign 0.22
R5851:Nrf1 UTSW 6 30,089,975 (GRCm39) missense possibly damaging 0.92
R6470:Nrf1 UTSW 6 30,102,199 (GRCm39) missense probably damaging 0.99
R7106:Nrf1 UTSW 6 30,102,183 (GRCm39) missense probably benign
R7334:Nrf1 UTSW 6 30,118,970 (GRCm39) missense probably benign 0.30
R7476:Nrf1 UTSW 6 30,116,271 (GRCm39) missense probably damaging 1.00
R7510:Nrf1 UTSW 6 30,151,633 (GRCm39) missense possibly damaging 0.94
R7625:Nrf1 UTSW 6 30,116,230 (GRCm39) missense probably benign 0.20
R7882:Nrf1 UTSW 6 30,090,299 (GRCm39) missense probably benign 0.01
R8101:Nrf1 UTSW 6 30,098,449 (GRCm39) missense possibly damaging 0.57
R8338:Nrf1 UTSW 6 30,140,247 (GRCm39) missense
R8506:Nrf1 UTSW 6 30,126,256 (GRCm39) missense probably benign 0.00
R9446:Nrf1 UTSW 6 30,090,019 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGAGTACTTTCTCACTGCAGGC -3'
(R):5'- GGAGTCCCGTTCCAACATTG -3'

Sequencing Primer
(F):5'- ATGGAGTTCATGCATGGACCATC -3'
(R):5'- CCAACATTGTACCTTCAGATTTCAG -3'
Posted On 2014-06-30