Mutagenetix > Incidental Mutation

Incidental Mutation 'R8506:Nrf1'

655567

Institutional Source

Beutler Lab

Gene Symbol

Nrf1

Ensembl Gene

ENSMUSG00000058440

Gene Name

nuclear respiratory factor 1

Synonyms

D6Ertd415e

MMRRC Submission

067842-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8506 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30047987-30153457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 30126256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 416 (A416T)

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: A416T

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000004761
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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: A416T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000065568
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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: A428T

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000067447
Gene: ENSMUSG00000058440
AA Change: A428T

Domain	Start	End	E-Value	Type
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: A428T

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000110853
Gene: ENSMUSG00000058440
AA Change: A428T

Domain	Start	End	E-Value	Type
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: A416T

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110854
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000110858
Gene: ENSMUSG00000058440

Domain	Start	End	E-Value	Type
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: A416T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110860
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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: A416T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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: A416T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110863
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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: A416T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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: A416T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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: A154T

Domain	Start	End	E-Value	Type
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: A416T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440
AA Change: A416T

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000132637
Gene: ENSMUSG00000058440

Domain	Start	End	E-Value	Type
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: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9630041A04Rik	A	T	9: 101,820,171 (GRCm39)	E197V	possibly damaging	Het
Alkbh8	C	T	9: 3,335,616 (GRCm39)		probably benign	Het
Ank1	G	A	8: 23,586,851 (GRCm39)	A498T	probably damaging	Het
Antxr1	T	A	6: 87,165,155 (GRCm39)	E427D	possibly damaging	Het
App	A	C	16: 84,879,704 (GRCm39)	V143G	unknown	Het
Bod1l	C	A	5: 41,976,398 (GRCm39)	E1639*	probably null	Het
C2cd2	T	C	16: 97,676,621 (GRCm39)	D122G		Het
Ccdc88b	G	T	19: 6,824,690 (GRCm39)	P1357T	probably damaging	Het
Ccnyl1	A	G	1: 64,753,821 (GRCm39)	T211A	possibly damaging	Het
Cdc25a	T	C	9: 109,720,820 (GRCm39)	Y434H	probably damaging	Het
Ceacam16	C	A	7: 19,586,195 (GRCm39)	A106S	unknown	Het
Celsr1	G	T	15: 85,917,286 (GRCm39)	S229*	probably null	Het
Chpf2	T	C	5: 24,793,295 (GRCm39)	L87P	probably damaging	Het
Col5a2	A	T	1: 45,481,944 (GRCm39)	I60N	unknown	Het
Cux1	T	A	5: 136,337,358 (GRCm39)	E718V	probably damaging	Het
Dchs2	A	T	3: 83,208,481 (GRCm39)	I1845L	probably benign	Het
Disp3	C	T	4: 148,326,027 (GRCm39)	V1244I	possibly damaging	Het
Dnah8	T	C	17: 30,940,108 (GRCm39)	S1685P	probably benign	Het
Etnppl	G	A	3: 130,423,122 (GRCm39)	V274I	possibly damaging	Het
Evc2	T	C	5: 37,540,486 (GRCm39)	S561P	probably damaging	Het
Fga	A	G	3: 82,940,623 (GRCm39)	E759G	probably damaging	Het
Gdpd5	T	C	7: 99,103,157 (GRCm39)	F372S	probably benign	Het
Gpr155	T	C	2: 73,173,806 (GRCm39)	T868A	probably damaging	Het
Herc1	A	G	9: 66,380,863 (GRCm39)	D3580G	possibly damaging	Het
Hmbs	A	G	9: 44,252,921 (GRCm39)		probably null	Het
Ibsp	A	T	5: 104,457,947 (GRCm39)	E161D	probably damaging	Het
Ighv8-4	A	G	12: 114,987,728 (GRCm39)	V90A	possibly damaging	Het
Itpr2	A	G	6: 146,319,914 (GRCm39)		probably null	Het
Kcnc2	T	A	10: 112,291,537 (GRCm39)	F242I	probably damaging	Het
Kcnj5	A	G	9: 32,233,628 (GRCm39)	I229T	probably damaging	Het
Lamb1	A	T	12: 31,379,360 (GRCm39)	L1791F	probably damaging	Het
Med6	A	T	12: 81,641,734 (GRCm39)	M1K	probably null	Het
Mei4	A	G	9: 81,861,291 (GRCm39)	D294G	probably benign	Het
Nat10	T	C	2: 103,562,582 (GRCm39)	I585V	probably benign	Het
Nid1	T	C	13: 13,650,759 (GRCm39)	V432A	probably damaging	Het
Nlrp4c	G	T	7: 6,103,775 (GRCm39)	G903V	possibly damaging	Het
Nsl1	G	C	1: 190,808,832 (GRCm39)	C173S	unknown	Het
Obsl1	G	A	1: 75,482,300 (GRCm39)	A190V	probably benign	Het
Or13a22	G	A	7: 140,073,336 (GRCm39)	V262I	probably benign	Het
Or51f1d	T	A	7: 102,700,709 (GRCm39)	M68K	probably damaging	Het
Or5b3	A	G	19: 13,388,604 (GRCm39)	T224A	possibly damaging	Het
Or5w8	A	T	2: 87,688,181 (GRCm39)	I221F	probably damaging	Het
Or8k3	A	G	2: 86,058,922 (GRCm39)	L131P	possibly damaging	Het
Or8k38	T	C	2: 86,488,745 (GRCm39)	D19G	probably benign	Het
Osbpl1a	G	A	18: 12,901,643 (GRCm39)	T621I	probably benign	Het
Pabpc4l	G	A	3: 46,400,832 (GRCm39)	R271*	probably null	Het
Paics	A	T	5: 77,112,437 (GRCm39)	D307V	possibly damaging	Het
Pcdhga9	A	G	18: 37,871,737 (GRCm39)	D522G	probably damaging	Het
Pclo	T	A	5: 14,590,759 (GRCm39)	C1020S	unknown	Het
Pfkfb4	T	G	9: 108,834,667 (GRCm39)	D113E	possibly damaging	Het
Plod3	A	G	5: 137,017,830 (GRCm39)	Y202C	probably damaging	Het
Pmp22	T	A	11: 63,049,090 (GRCm39)	M111K	probably damaging	Het
Pole2	A	C	12: 69,255,734 (GRCm39)	S344A	probably benign	Het
Pom121l2	A	G	13: 22,167,789 (GRCm39)	T687A	probably benign	Het
Psmd6	A	G	14: 14,114,181 (GRCm38)	S313P	probably damaging	Het
Rd3	T	G	1: 191,715,228 (GRCm39)	M1R	probably null	Het
Rtn4ip1	G	A	10: 43,804,352 (GRCm39)	V235I	probably benign	Het
Senp5	T	C	16: 31,787,719 (GRCm39)	I635V	probably damaging	Het
Stox2	T	C	8: 47,645,108 (GRCm39)	E784G	possibly damaging	Het
Syce2	A	T	8: 85,613,795 (GRCm39)	D168V	probably benign	Het
Taar6	A	G	10: 23,861,529 (GRCm39)	S6P	probably benign	Het
Tbc1d16	A	C	11: 119,039,784 (GRCm39)	H675Q	probably damaging	Het
Tmem151b	A	T	17: 45,856,327 (GRCm39)	I371N	probably damaging	Het
Trim31	A	T	17: 37,218,150 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,338,029 (GRCm39)	Y268C	probably damaging	Het
Vmn2r11	A	G	5: 109,207,270 (GRCm39)	S17P	probably benign	Het
Vmn2r110	T	A	17: 20,804,627 (GRCm39)	N98Y	probably benign	Het
Vps13b	T	A	15: 35,446,891 (GRCm39)	D515E	probably benign	Het
Yeats2	T	G	16: 19,971,684 (GRCm39)	I42M	probably damaging	Het

Other mutations in Nrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
R9446:Nrf1	UTSW	6	30,090,019 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCAGAGCTTGCACTTGTACC -3'
(R):5'- TTGCTGGCTATATCAGGAAGG -3'

Sequencing Primer
(F):5'- GGACTGATAATGAGCATCTTCTGTCC -3'
(R):5'- GCTGGCTATATCAGGAAGGTTTAAG -3'

Posted On

2020-10-20