Incidental Mutation 'R5654:Nrf1'
ID 442167
Institutional Source Beutler Lab
Gene Symbol Nrf1
Ensembl Gene ENSMUSG00000058440
Gene Name nuclear respiratory factor 1
Synonyms D6Ertd415e
MMRRC Submission 043300-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5654 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 30047987-30153457 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 30117061 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 324 (T324A)
Ref Sequence ENSEMBL: ENSMUSP00000132637 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004761] [ENSMUST00000069808] [ENSMUST00000069831] [ENSMUST00000115199] [ENSMUST00000115200] [ENSMUST00000115204] [ENSMUST00000115206] [ENSMUST00000115208] [ENSMUST00000115209] [ENSMUST00000115211] [ENSMUST00000115212] [ENSMUST00000167972] [ENSMUST00000170535]
AlphaFold Q9WU00
Predicted Effect probably benign
Transcript: ENSMUST00000004761
AA Change: T324A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000004761
Gene: ENSMUSG00000058440
AA Change: T324A

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: T324A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000065568
Gene: ENSMUSG00000058440
AA Change: T324A

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: T336A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000067447
Gene: ENSMUSG00000058440
AA Change: T336A

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: T336A

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000110853
Gene: ENSMUSG00000058440
AA Change: T336A

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: T324A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000110854
Gene: ENSMUSG00000058440
AA Change: T324A

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: T324A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000110858
Gene: ENSMUSG00000058440
AA Change: T324A

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: T324A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000110860
Gene: ENSMUSG00000058440
AA Change: T324A

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 unknown
Transcript: ENSMUST00000132866
AA Change: T62A
SMART Domains Protein: ENSMUSP00000114451
Gene: ENSMUSG00000058440
AA Change: T62A

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: ENSMUST00000115208
AA Change: T324A

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000110863
Gene: ENSMUSG00000058440
AA Change: T324A

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: T324A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440
AA Change: T324A

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: T324A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440
AA Change: T324A

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
AA Change: T324A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440
AA Change: T324A

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
AA Change: T324A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440
AA Change: T324A

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: T324A

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000132637
Gene: ENSMUSG00000058440
AA Change: T324A

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 noncoding transcript
Transcript: ENSMUST00000133837
Meta Mutation Damage Score 0.0701 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency 96% (69/72)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 T C 1: 75,151,479 (GRCm39) probably null Het
Abcc9 G A 6: 142,571,371 (GRCm39) probably benign Het
Acss2 T C 2: 155,416,575 (GRCm39) probably benign Het
Atp8b4 G A 2: 126,217,725 (GRCm39) T597I probably damaging Het
Btaf1 A T 19: 36,961,015 (GRCm39) N796I probably benign Het
Caskin2 T C 11: 115,690,905 (GRCm39) probably null Het
Cdhr2 A G 13: 54,884,349 (GRCm39) N1295D probably benign Het
Cog3 G A 14: 75,962,239 (GRCm39) T534M probably benign Het
Cpne1 A G 2: 155,919,561 (GRCm39) S303P probably damaging Het
Cs G A 10: 128,187,086 (GRCm39) G74S possibly damaging Het
Cyb5r4 G T 9: 86,929,533 (GRCm39) S229I probably damaging Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Ect2l C T 10: 18,018,810 (GRCm39) V529M probably damaging Het
Edaradd C A 13: 12,493,161 (GRCm39) R177L possibly damaging Het
Esf1 T C 2: 140,006,148 (GRCm39) D333G possibly damaging Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fbxl18 A G 5: 142,871,558 (GRCm39) I559T probably damaging Het
Fcrl2 A C 3: 87,164,851 (GRCm39) V225G probably benign Het
Ido1 C T 8: 25,077,819 (GRCm39) V83M probably damaging Het
Iffo1 T G 6: 125,130,030 (GRCm39) C419G probably damaging Het
Igfals A T 17: 25,100,439 (GRCm39) Y510F probably benign Het
Ipo9 A T 1: 135,313,210 (GRCm39) Y1006* probably null Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Jmjd1c T A 10: 67,065,785 (GRCm39) S1737T probably benign Het
Klhl32 C T 4: 24,800,805 (GRCm39) probably null Het
Klk1b11 T A 7: 43,427,810 (GRCm39) C173S probably damaging Het
Klk1b24 A T 7: 43,840,889 (GRCm39) M106L probably benign Het
Lamp1 G A 8: 13,221,388 (GRCm39) probably null Het
Mapk4 A T 18: 74,103,365 (GRCm39) V48E probably damaging Het
Marchf6 A T 15: 31,486,082 (GRCm39) D395E probably damaging Het
Mdp1 A G 14: 55,896,465 (GRCm39) F157S probably damaging Het
Mettl21e A T 1: 44,250,255 (GRCm39) F50L probably damaging Het
Mrgpra2a A G 7: 47,077,153 (GRCm39) I35T probably benign Het
Natd1 T C 11: 60,796,892 (GRCm39) Y91C probably damaging Het
Nbas T A 12: 13,633,476 (GRCm39) Y2294N probably damaging Het
Nrcam A G 12: 44,610,841 (GRCm39) T520A probably benign Het
Or10a2 G A 7: 106,673,394 (GRCm39) A120T probably damaging Het
Or4k51 T A 2: 111,585,326 (GRCm39) I244N probably damaging Het
Or52a5 A C 7: 103,427,182 (GRCm39) D123E probably damaging Het
Or5m11b A G 2: 85,806,500 (GRCm39) I304M probably benign Het
Pam C T 1: 97,792,123 (GRCm39) V433I probably benign Het
Pck1 T A 2: 173,000,353 (GRCm39) Y595N probably damaging Het
Per2 C T 1: 91,373,223 (GRCm39) probably null Het
Piezo2 G C 18: 63,278,162 (GRCm39) F247L possibly damaging Het
Pkdcc A G 17: 83,523,337 (GRCm39) Y148C probably damaging Het
Plod2 A G 9: 92,475,876 (GRCm39) T320A probably benign Het
Ppip5k1 G A 2: 121,147,157 (GRCm39) R1155C probably benign Het
Ppp1r15b C T 1: 133,059,382 (GRCm39) probably benign Het
Prkn C T 17: 11,456,536 (GRCm39) A119V probably damaging Het
Ptprz1 G T 6: 22,986,133 (GRCm39) C311F probably damaging Het
Rab11fip3 A T 17: 26,235,038 (GRCm39) V44E probably damaging Het
Rpl5 T A 5: 108,051,514 (GRCm39) probably benign Het
Rttn G A 18: 89,066,556 (GRCm39) V1201I probably benign Het
Sdk1 A G 5: 141,921,853 (GRCm39) N283S probably damaging Het
Shank3 T A 15: 89,405,529 (GRCm39) N418K probably benign Het
Shmt2 T C 10: 127,353,668 (GRCm39) D499G probably benign Het
Slc25a46 A G 18: 31,716,293 (GRCm39) L403S probably damaging Het
Slc5a1 A G 5: 33,303,955 (GRCm39) T257A probably benign Het
Snrnp35 T C 5: 124,628,535 (GRCm39) V116A probably benign Het
Spag9 T A 11: 93,981,538 (GRCm39) F593I probably damaging Het
Tmem171 C A 13: 98,828,574 (GRCm39) R192L probably benign Het
Trappc3l T A 10: 33,978,703 (GRCm39) L169Q unknown Het
Ube2s T C 7: 4,811,431 (GRCm39) E148G probably damaging Het
Uspl1 T C 5: 149,146,521 (GRCm39) F424S probably damaging Het
Vmn1r2 T C 4: 3,172,261 (GRCm39) V60A probably benign Het
Wdfy4 T C 14: 32,829,575 (GRCm39) probably null Het
Zfp735 C T 11: 73,602,964 (GRCm39) S636L possibly damaging Het
Zswim9 G A 7: 12,995,094 (GRCm39) S354F probably 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
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'- TTGGTTGACTGGCACCAAAC -3'
(R):5'- AGTTTCACATATTGCAAGGCTG -3'

Sequencing Primer
(F):5'- CCAGAGTGGAATGCAGTTATTC -3'
(R):5'- AGGCTGCTCCTTCGTCTTCTG -3'
Posted On 2016-11-09