Incidental Mutation 'R7106:Nrf1'
ID 551171
Institutional Source Beutler Lab
Gene Symbol Nrf1
Ensembl Gene ENSMUSG00000058440
Gene Name nuclear respiratory factor 1
Synonyms D6Ertd415e
MMRRC Submission 045198-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7106 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 30047987-30153457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30102183 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 161 (S161G)
Ref Sequence ENSEMBL: ENSMUSP00000110867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004761] [ENSMUST00000069808] [ENSMUST00000069831] [ENSMUST00000115199] [ENSMUST00000115200] [ENSMUST00000115204] [ENSMUST00000115212] [ENSMUST00000115206] [ENSMUST00000115208] [ENSMUST00000115209] [ENSMUST00000115211] [ENSMUST00000123194] [ENSMUST00000167972] [ENSMUST00000170535]
AlphaFold Q9WU00
Predicted Effect probably benign
Transcript: ENSMUST00000004761
AA Change: S161G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004761
Gene: ENSMUSG00000058440
AA Change: S161G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
low complexity region 475 486 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000069808
AA Change: S161G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000065568
Gene: ENSMUSG00000058440
AA Change: S161G

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 benign
Transcript: ENSMUST00000069831
AA Change: S173G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000067447
Gene: ENSMUSG00000058440
AA Change: S173G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 87 297 3.3e-132 PFAM
low complexity region 389 406 N/A INTRINSIC
low complexity region 421 435 N/A INTRINSIC
low complexity region 487 498 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115199
AA Change: S173G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000110853
Gene: ENSMUSG00000058440
AA Change: S173G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 87 297 3.3e-132 PFAM
low complexity region 389 406 N/A INTRINSIC
low complexity region 421 435 N/A INTRINSIC
low complexity region 487 498 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115200
AA Change: S161G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110854
Gene: ENSMUSG00000058440
AA Change: S161G

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 75 285 2e-132 PFAM
low complexity region 377 394 N/A INTRINSIC
low complexity region 409 423 N/A INTRINSIC
low complexity region 475 486 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115204
AA Change: S161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110858
Gene: ENSMUSG00000058440
AA Change: S161G

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
AA Change: S161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440
AA Change: S161G

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: ENSMUST00000115206
AA Change: S161G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000110860
Gene: ENSMUSG00000058440
AA Change: S161G

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
AA Change: S161G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000110863
Gene: ENSMUSG00000058440
AA Change: S161G

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
AA Change: S161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440
AA Change: S161G

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
AA Change: S161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440
AA Change: S161G

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: ENSMUST00000123194
SMART Domains Protein: ENSMUSP00000114650
Gene: ENSMUSG00000058440

DomainStartEndE-ValueType
low complexity region 17 30 N/A INTRINSIC
low complexity region 39 57 N/A INTRINSIC
Pfam:Nrf1_DNA-bind 87 167 2.7e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000167972
AA Change: S161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440
AA Change: S161G

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: ENSMUST00000170535
AA Change: S161G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132637
Gene: ENSMUSG00000058440
AA Change: S161G

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
Meta Mutation Damage Score 0.0590 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (62/62)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob T C 4: 49,541,258 (GRCm39) Y138C probably damaging Het
Ano7 A C 1: 93,302,705 (GRCm39) probably null Het
Arvcf T A 16: 18,217,799 (GRCm39) V497E probably damaging Het
Atad2 A G 15: 57,980,162 (GRCm39) probably null Het
Brinp1 C T 4: 68,747,615 (GRCm39) A163T probably benign Het
Catsperd C A 17: 56,965,070 (GRCm39) probably null Het
Ccm2l A G 2: 152,912,571 (GRCm39) H70R possibly damaging Het
Cgnl1 G A 9: 71,633,015 (GRCm39) T112I probably benign Het
Chid1 T C 7: 141,102,573 (GRCm39) H220R probably benign Het
Clca3a1 A G 3: 144,733,190 (GRCm39) V106A probably damaging Het
Cldn23 A C 8: 36,293,069 (GRCm39) S140A probably benign Het
Dennd2c T C 3: 103,038,893 (GRCm39) S14P possibly damaging Het
Det1 T C 7: 78,493,212 (GRCm39) D264G probably damaging Het
Dmwd T C 7: 18,814,454 (GRCm39) V368A probably damaging Het
Dnah11 T C 12: 117,924,884 (GRCm39) K3362E probably benign Het
Dnah8 T C 17: 30,960,152 (GRCm39) F2208L probably damaging Het
Dnaja3 T C 16: 4,523,798 (GRCm39) I477T probably benign Het
Dnmt3a A G 12: 3,947,591 (GRCm39) K482E probably damaging Het
Dock7 A G 4: 98,855,563 (GRCm39) I1493T unknown Het
Ehbp1l1 A G 19: 5,768,765 (GRCm39) V846A probably benign Het
Fbxl4 T A 4: 22,427,140 (GRCm39) probably null Het
Fgd2 T A 17: 29,595,944 (GRCm39) L534* probably null Het
Fgfr3 T C 5: 33,888,758 (GRCm39) V349A probably damaging Het
Gal3st1 A T 11: 3,948,509 (GRCm39) I239F probably damaging Het
Gpatch3 C A 4: 133,305,514 (GRCm39) H250N probably benign Het
Guca1b A T 17: 47,702,236 (GRCm39) K230* probably null Het
Itga3 G T 11: 94,946,699 (GRCm39) L737I probably benign Het
Kmt5c A G 7: 4,745,705 (GRCm39) K122E probably damaging Het
Kpna4 G A 3: 68,986,797 (GRCm39) Q531* probably null Het
Lctl A G 9: 64,040,119 (GRCm39) E410G probably benign Het
Lhx1 T C 11: 84,412,903 (GRCm39) N128D probably benign Het
Lifr A G 15: 7,202,405 (GRCm39) N349D probably benign Het
Map2 G A 1: 66,449,903 (GRCm39) A209T possibly damaging Het
Mif4gd G A 11: 115,502,737 (GRCm39) A25V probably damaging Het
Mug2 T C 6: 122,059,680 (GRCm39) S1353P probably damaging Het
Myh9 A G 15: 77,659,321 (GRCm39) C931R probably benign Het
Nelfe T G 17: 35,071,395 (GRCm39) probably null Het
Pik3c2a G A 7: 116,017,368 (GRCm39) Q130* probably null Het
Prex2 T A 1: 11,207,017 (GRCm39) M525K probably benign Het
Psme2 A G 14: 55,825,694 (GRCm39) S165P probably benign Het
Rapgef2 A G 3: 78,973,915 (GRCm39) F1477S probably benign Het
Rasef A T 4: 73,645,864 (GRCm39) C502S probably damaging Het
Rpap2 T A 5: 107,780,988 (GRCm39) L565* probably null Het
Sav1 A G 12: 70,031,390 (GRCm39) I44T probably damaging Het
Selp T A 1: 163,953,991 (GRCm39) I97N probably benign Het
Serpina1d A G 12: 103,731,980 (GRCm39) F293S probably benign Het
Sin3b T C 8: 73,450,765 (GRCm39) F65L possibly damaging Het
Sorcs3 G C 19: 48,694,402 (GRCm39) G559R probably damaging Het
Susd2 A T 10: 75,473,887 (GRCm39) D689E probably damaging Het
Tas1r2 A T 4: 139,389,360 (GRCm39) M448L probably benign Het
Tbc1d30 A T 10: 121,137,897 (GRCm39) I181N possibly damaging Het
Tcea3 A G 4: 135,998,679 (GRCm39) T318A probably damaging Het
Tomm70a T C 16: 56,961,121 (GRCm39) V358A probably damaging Het
Tpp1 A C 7: 105,399,118 (GRCm39) S153A possibly damaging Het
Trip13 C T 13: 74,062,651 (GRCm39) V387I probably benign Het
Ttn T C 2: 76,627,832 (GRCm39) I14704V probably benign Het
Uimc1 C A 13: 55,198,628 (GRCm39) C516F possibly damaging Het
Vit A G 17: 78,894,228 (GRCm39) N210S probably benign Het
Vmn1r22 G T 6: 57,877,296 (GRCm39) T227K probably damaging Het
Vmn2r5 A G 3: 64,399,104 (GRCm39) I625T probably benign Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) probably benign Het
Zfp384 T C 6: 125,001,222 (GRCm39) L98P probably benign Het
Zfp809 G T 9: 22,147,520 (GRCm39) K51N 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
R1892:Nrf1 UTSW 6 30,144,787 (GRCm39) missense probably null
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
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'- AGAAGCAGTGGACTTCTCCC -3'
(R):5'- TCAAGCTCTGGTCACATCGC -3'

Sequencing Primer
(F):5'- CTGCTGTTACCTAAAATTTCATCATC -3'
(R):5'- TCTGGTCACATCGCCAACC -3'
Posted On 2019-05-15