Incidental Mutation 'R1892:Nrf1'
ID211587
Institutional Source Beutler Lab
Gene Symbol Nrf1
Ensembl Gene ENSMUSG00000058440
Gene Namenuclear respiratory factor 1
SynonymsD6Ertd415e
MMRRC Submission 039912-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1892 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location30047988-30153458 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30144788 bp
ZygosityHeterozygous
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] [ENSMUST00000115211] [ENSMUST00000115212] [ENSMUST00000167972] [ENSMUST00000170535]
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 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
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 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: 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: 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
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: 120,216,338 A270T probably benign Het
Abcb7 A T X: 104,342,536 H97Q probably damaging Het
Adat3 T C 10: 80,606,415 L29P probably damaging Het
AI987944 A T 7: 41,374,596 C320S probably damaging Het
Asic4 C T 1: 75,469,482 R285W probably damaging Het
Asic5 A T 3: 82,020,986 I419L probably damaging Het
Batf A G 12: 85,689,328 K42E probably damaging Het
Bcar3 A G 3: 122,508,136 N160S probably benign Het
Bco2 C A 9: 50,550,563 G47V probably damaging Het
Bicc1 T G 10: 70,958,784 K181T probably damaging Het
Brinp2 A G 1: 158,254,972 probably null Het
Cacng8 A G 7: 3,415,052 D240G possibly damaging Het
Calca A G 7: 114,633,727 Y96H probably damaging Het
Cdh1 A T 8: 106,664,250 K666I possibly damaging Het
Cdh16 A T 8: 104,617,999 I500N possibly damaging Het
Chst14 A G 2: 118,927,349 Y208C probably damaging Het
Chst9 T C 18: 15,452,960 H182R probably damaging Het
Clk2 A G 3: 89,175,195 I367M possibly damaging Het
Cobl G C 11: 12,253,258 S1066W probably damaging Het
Ctcfl A G 2: 173,118,685 V35A probably benign Het
Dchs1 G T 7: 105,764,156 H1151N probably benign Het
Dennd1c T C 17: 57,067,083 T529A probably benign Het
Dnah11 A T 12: 118,106,474 V1532D possibly damaging Het
Dync1h1 A G 12: 110,646,304 Y2871C probably damaging Het
Dytn T C 1: 63,677,261 E51G probably benign Het
Esd C T 14: 74,749,673 A266V probably damaging Het
Fam104a G T 11: 113,663,386 P161H probably damaging Het
Gli1 T C 10: 127,330,106 M1093V possibly damaging Het
Gm15446 A G 5: 109,943,387 K502E probably damaging Het
Gm15448 A C 7: 3,824,574 C195G probably benign Het
Gm4076 T A 13: 85,127,328 noncoding transcript Het
Gm9830 A G 9: 44,464,528 noncoding transcript Het
Gm9938 G A 19: 23,724,591 probably benign Het
Grhl1 G A 12: 24,584,910 R245H probably damaging Het
Hnrnpul1 A T 7: 25,726,766 D553E probably benign Het
Hpn G A 7: 31,099,043 Q415* probably null Het
Hsd11b1 T G 1: 193,223,760 M175L probably benign Het
Htra1 G A 7: 130,985,069 V461I possibly damaging Het
Il1rl2 A G 1: 40,327,534 H76R probably damaging Het
Insrr G A 3: 87,813,877 V1112M probably damaging Het
Ints9 T C 14: 65,020,423 S351P probably benign Het
Itgav T A 2: 83,771,336 N350K probably damaging Het
Kdm4d C A 9: 14,464,317 V82L probably benign Het
Klc1 T C 12: 111,781,827 probably null Het
Kmt5c T A 7: 4,742,715 C69* probably null Het
Lgals3 T G 14: 47,384,707 N193K possibly damaging Het
Morc2b T A 17: 33,135,774 D1008V probably damaging Het
Mpg C T 11: 32,231,720 Q243* probably null Het
Muc15 C T 2: 110,737,352 R281* probably null Het
Ncstn CAGCTCCACGAAG CAG 1: 172,071,471 probably null Het
Nek5 A G 8: 22,107,729 M278T probably benign Het
Npas2 A G 1: 39,345,422 T599A probably benign Het
Nup43 A G 10: 7,673,609 H176R probably damaging Het
Nxpe2 T C 9: 48,326,614 T114A probably damaging Het
Olfr218 T C 1: 173,204,228 Y291H probably damaging Het
Olfr497 A T 7: 108,422,940 Y123F possibly damaging Het
Olfr790 A C 10: 129,501,033 I50L probably benign Het
Perm1 C T 4: 156,217,883 R295C probably benign Het
Pik3ip1 G T 11: 3,333,304 A135S probably damaging Het
Ppp4c A G 7: 126,786,280 V119A probably damaging Het
Prepl A G 17: 85,088,450 Y35H possibly damaging Het
Ptpn13 A G 5: 103,501,679 Y316C possibly damaging Het
Pxk C T 14: 8,151,507 R441* probably null Het
Ranbp2 T C 10: 58,464,099 V491A probably benign Het
Ranbp9 C A 13: 43,416,457 C495F possibly damaging Het
Rfx8 A T 1: 39,670,586 probably null Het
Rnf111 T A 9: 70,476,374 K92N probably damaging Het
Rtn1 A G 12: 72,212,563 I772T probably damaging Het
Ryr2 T A 13: 11,658,958 K72* probably null Het
Sergef A T 7: 46,614,616 probably null Het
Sez6l T C 5: 112,472,799 N305S probably damaging Het
Slc40a1 A T 1: 45,911,142 C383* probably null Het
Stab2 C T 10: 86,938,049 C806Y probably damaging Het
Stard9 A G 2: 120,693,708 T795A probably benign Het
Stk31 T C 6: 49,438,474 I536T probably damaging Het
Stox1 T A 10: 62,665,399 T461S possibly damaging Het
Suv39h2 T C 2: 3,459,768 Y219C probably damaging Het
Tap1 T G 17: 34,194,941 D643E probably damaging Het
Tbc1d2b T A 9: 90,218,943 I665F probably damaging Het
Tdrd6 T C 17: 43,624,805 N1784S probably benign Het
Tmem14c T C 13: 41,021,157 F81L possibly damaging Het
Tnrc6c A G 11: 117,714,362 N108D probably benign Het
Tox3 A T 8: 90,270,241 N131K probably benign Het
Tspear T A 10: 77,870,474 D359E probably benign Het
Ttc9 A G 12: 81,631,777 I125V probably benign Het
Ttn A T 2: 76,898,187 probably benign Het
Ubn2 C T 6: 38,491,291 S980F probably damaging Het
Zfp362 T A 4: 128,790,264 T30S probably benign Het
Zfp385c A C 11: 100,637,804 H32Q probably damaging Het
Zfp870 A T 17: 32,883,889 H156Q possibly damaging Het
Zfp873 T C 10: 82,061,246 C641R probably damaging Het
Zfp950 A T 19: 61,119,111 H511Q probably benign Het
Other mutations in Nrf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00906:Nrf1 APN 6 30098478 missense probably damaging 1.00
IGL00909:Nrf1 APN 6 30098478 missense probably damaging 1.00
IGL01556:Nrf1 APN 6 30126367 intron probably benign
IGL02371:Nrf1 APN 6 30118991 missense possibly damaging 0.90
IGL03345:Nrf1 APN 6 30089948 missense probably damaging 0.99
R4097:Nrf1 UTSW 6 30151672 nonsense probably null
R5347:Nrf1 UTSW 6 30118968 missense probably benign 0.05
R5607:Nrf1 UTSW 6 30126246 missense probably damaging 1.00
R5654:Nrf1 UTSW 6 30117062 missense probably benign 0.22
R5851:Nrf1 UTSW 6 30089976 missense possibly damaging 0.92
R6470:Nrf1 UTSW 6 30102200 missense probably damaging 0.99
R7106:Nrf1 UTSW 6 30102184 missense probably benign
R7334:Nrf1 UTSW 6 30118971 missense probably benign 0.30
R7476:Nrf1 UTSW 6 30116272 missense probably damaging 1.00
R7510:Nrf1 UTSW 6 30151634 missense possibly damaging 0.94
R7625:Nrf1 UTSW 6 30116231 missense probably benign 0.20
R7882:Nrf1 UTSW 6 30090300 missense probably benign 0.01
R7965:Nrf1 UTSW 6 30090300 missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- AGAGTACTTTCTCACTGCAGGC -3'
(R):5'- GGAGTCCCGTTCCAACATTG -3'

Sequencing Primer
(F):5'- ATGGAGTTCATGCATGGACCATC -3'
(R):5'- CCAACATTGTACCTTCAGATTTCAG -3'
Posted On2014-06-30