Incidental Mutation 'R7625:Nrf1'
ID 589380
Institutional Source Beutler Lab
Gene Symbol Nrf1
Ensembl Gene ENSMUSG00000058440
Gene Name nuclear respiratory factor 1
Synonyms D6Ertd415e
MMRRC Submission 045719-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7625 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 30047987-30153457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30116230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 301 (V301I)
Ref Sequence ENSEMBL: ENSMUSP00000110867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004761] [ENSMUST00000069808] [ENSMUST00000069831] [ENSMUST00000115199] [ENSMUST00000115200] [ENSMUST00000115204] [ENSMUST00000115206] [ENSMUST00000115212] [ENSMUST00000115208] [ENSMUST00000115209] [ENSMUST00000115211] [ENSMUST00000167972] [ENSMUST00000170535]
AlphaFold Q9WU00
Predicted Effect probably benign
Transcript: ENSMUST00000004761
AA Change: V301I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000004761
Gene: ENSMUSG00000058440
AA Change: V301I

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: V301I

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000065568
Gene: ENSMUSG00000058440
AA Change: V301I

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: V313I

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000067447
Gene: ENSMUSG00000058440
AA Change: V313I

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: V313I

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000110853
Gene: ENSMUSG00000058440
AA Change: V313I

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: V301I

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000110854
Gene: ENSMUSG00000058440
AA Change: V301I

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: V301I

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000110858
Gene: ENSMUSG00000058440
AA Change: V301I

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: ENSMUST00000115206
AA Change: V301I

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000110860
Gene: ENSMUSG00000058440
AA Change: V301I

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: ENSMUST00000115212
AA Change: V301I

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440
AA Change: V301I

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: ENSMUST00000115208
AA Change: V301I

PolyPhen 2 Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110863
Gene: ENSMUSG00000058440
AA Change: V301I

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: V301I

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440
AA Change: V301I

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: V301I

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440
AA Change: V301I

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
SMART Domains Protein: ENSMUSP00000114451
Gene: ENSMUSG00000058440
AA Change: V39I

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
AA Change: V301I

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440
AA Change: V301I

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: V301I

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000132637
Gene: ENSMUSG00000058440
AA Change: V301I

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (59/60)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,773,587 (GRCm39) V506E probably damaging Het
Acaa2 G T 18: 74,937,213 (GRCm39) V366F possibly damaging Het
Ago1 G A 4: 126,337,022 (GRCm39) R532C probably benign Het
Ank2 T G 3: 126,846,449 (GRCm39) D182A probably damaging Het
Anxa4 T C 6: 86,714,801 (GRCm39) D302G probably damaging Het
Apoa4 A T 9: 46,154,410 (GRCm39) E337V probably damaging Het
Atf1 A G 15: 100,152,158 (GRCm39) probably null Het
Atp8b3 A C 10: 80,355,980 (GRCm39) V1244G probably benign Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Camk2a G A 18: 61,085,412 (GRCm39) V132M probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Chd8 G A 14: 52,474,534 (GRCm39) P166S probably benign Het
Chl1 T A 6: 103,706,086 (GRCm39) S1140R probably damaging Het
Clstn3 G T 6: 124,414,377 (GRCm39) S783* probably null Het
Col6a1 A G 10: 76,549,760 (GRCm39) S562P unknown Het
Cpb2 G A 14: 75,509,989 (GRCm39) V250M possibly damaging Het
Cyp2c38 T A 19: 39,451,368 (GRCm39) Q44L possibly damaging Het
Dgat1 T C 15: 76,387,395 (GRCm39) M325V possibly damaging Het
Dnah11 T A 12: 118,160,377 (GRCm39) M118L probably benign Het
Dpy19l3 T A 7: 35,452,106 (GRCm39) I13L probably benign Het
Enkd1 A G 8: 106,431,265 (GRCm39) probably null Het
Fam241b A G 10: 61,970,479 (GRCm39) probably benign Het
Fhit T A 14: 9,870,177 (GRCm38) probably null Het
Gp6 T C 7: 4,373,173 (GRCm39) E250G probably benign Het
Hmgb1 T C 5: 148,987,150 (GRCm39) E84G probably benign Het
Hscb T A 5: 110,977,012 (GRCm39) I227F probably damaging Het
Hspg2 T A 4: 137,292,249 (GRCm39) L4047Q probably damaging Het
Hsph1 A G 5: 149,541,901 (GRCm39) L775P probably benign Het
Hydin A T 8: 111,268,476 (GRCm39) S2947C probably benign Het
Intu T C 3: 40,652,029 (GRCm39) S829P probably benign Het
Kcnn3 C A 3: 89,516,977 (GRCm39) T462K probably damaging Het
Kndc1 G A 7: 139,517,930 (GRCm39) C1622Y possibly damaging Het
Lifr T C 15: 7,198,723 (GRCm39) Y318H probably damaging Het
Mier2 A G 10: 79,378,543 (GRCm39) S332P probably damaging Het
Mindy4 T C 6: 55,253,598 (GRCm39) I489T possibly damaging Het
Mmp8 A T 9: 7,566,218 (GRCm39) Q358L probably benign Het
Ms4a4a T A 19: 11,367,728 (GRCm39) probably null Het
Nav1 G C 1: 135,395,483 (GRCm39) S962C probably damaging Het
Nfe2l1 G A 11: 96,710,271 (GRCm39) R653C probably damaging Het
Nherf4 A T 9: 44,161,594 (GRCm39) I95N probably damaging Het
Nod2 A T 8: 89,391,906 (GRCm39) I738F probably damaging Het
Oog1 T C 12: 87,655,082 (GRCm39) F410S probably benign Het
Or52a33 A G 7: 103,289,165 (GRCm39) Y61H probably damaging Het
Or6k4 G A 1: 173,964,733 (GRCm39) C141Y probably benign Het
Pcdhga8 G A 18: 37,859,954 (GRCm39) V337I probably benign Het
Pelp1 G T 11: 70,286,260 (GRCm39) N572K probably benign Het
Pikfyve T C 1: 65,307,036 (GRCm39) V1808A possibly damaging Het
Pirt A C 11: 66,816,769 (GRCm39) S27R probably damaging Het
Pramel20 A T 4: 143,298,821 (GRCm39) I255L probably benign Het
Rgs17 A T 10: 5,791,488 (GRCm39) D96E probably benign Het
Senp1 A G 15: 97,964,679 (GRCm39) F206L probably benign Het
Sh3rf1 T A 8: 61,825,756 (GRCm39) S584T probably benign Het
Tex44 A T 1: 86,354,459 (GRCm39) K123* probably null Het
Tpst2 C A 5: 112,455,887 (GRCm39) T142K probably damaging Het
Ttc28 G A 5: 111,433,085 (GRCm39) G2040R possibly damaging Het
Uggt2 T A 14: 119,263,905 (GRCm39) I1042F probably damaging Het
Vmn2r91 T C 17: 18,325,693 (GRCm39) S104P probably damaging Het
Wdfy3 T C 5: 102,003,252 (GRCm39) probably null Het
Zeb2 G A 2: 44,892,584 (GRCm39) A223V probably damaging Het
Zfp1002 T C 2: 150,096,520 (GRCm39) D303G probably benign Het
Zfp566 A G 7: 29,777,930 (GRCm39) S84P probably benign Het
Zfp994 T A 17: 22,420,736 (GRCm39) H71L possibly damaging 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
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
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'- CGAGGTTTGATAAATACATGCCTG -3'
(R):5'- GAGCAGCTGTTAGGATGTGC -3'

Sequencing Primer
(F):5'- TGTGGTGGCATAAATCCCC -3'
(R):5'- CAGCTGTTAGGATGTGCAGAGAAG -3'
Posted On 2019-10-24