Mutagenetix > Incidental Mutation

Incidental Mutation 'R7510:Nrf1'

582022

Institutional Source

Beutler Lab

Gene Symbol

Nrf1

Ensembl Gene

ENSMUSG00000058440

Gene Name

nuclear respiratory factor 1

Synonyms

D6Ertd415e

MMRRC Submission

045583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7510 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30047987-30153457 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 30151633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 490 (T490I)

Ref Sequence

ENSEMBL: ENSMUSP00000110867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115208] [ENSMUST00000115209] [ENSMUST00000115211] [ENSMUST00000115212] [ENSMUST00000167972]

AlphaFold

Q9WU00

Predicted Effect

probably benign
Transcript: ENSMUST00000115208

SMART Domains

Protein: ENSMUSP00000110863
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	1.6e-132	PFAM
low complexity region	377	394	N/A	INTRINSIC
low complexity region	409	423	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115209
AA Change: T490I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440
AA Change: T490I

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

possibly damaging
Transcript: ENSMUST00000115211
AA Change: T490I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440
AA Change: T490I

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

possibly damaging
Transcript: ENSMUST00000115212
AA Change: T490I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440
AA Change: T490I

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

possibly damaging
Transcript: ENSMUST00000167972
AA Change: T490I

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440
AA Change: T490I

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

Meta Mutation Damage Score

0.3425

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

97% (65/67)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp2b1	C	T	10: 98,829,758 (GRCm39)	R320C	probably benign	Het
Bend4	A	G	5: 67,584,727 (GRCm39)	F66L	unknown	Het
Brca2	T	C	5: 150,460,156 (GRCm39)	V477A	possibly damaging	Het
Brms1l	A	T	12: 55,892,107 (GRCm39)	K134*	probably null	Het
Catsper1	A	T	19: 5,389,578 (GRCm39)	T498S	probably benign	Het
Ccdc177	C	A	12: 80,804,457 (GRCm39)	V606L	unknown	Het
D030056L22Rik	G	T	19: 18,690,853 (GRCm39)	A56S	possibly damaging	Het
Disp1	T	C	1: 182,869,975 (GRCm39)	N815S	probably damaging	Het
Dsc2	C	T	18: 20,165,331 (GRCm39)	G881R	possibly damaging	Het
Fancf	A	G	7: 51,511,953 (GRCm39)	V17A	probably damaging	Het
Fastkd2	T	A	1: 63,776,948 (GRCm39)	H361Q	possibly damaging	Het
Furin	A	G	7: 80,043,333 (GRCm39)	S293P	probably damaging	Het
Ghsr	A	T	3: 27,426,523 (GRCm39)	D193V	probably benign	Het
Gm14403	T	A	2: 177,200,403 (GRCm39)	N116K	probably benign	Het
Gpr31b	A	G	17: 13,270,557 (GRCm39)	L204P	probably damaging	Het
Hexim1	A	G	11: 103,008,067 (GRCm39)	E107G	probably benign	Het
Hspa14	T	C	2: 3,499,159 (GRCm39)	S212G	probably benign	Het
Il18r1	T	A	1: 40,514,035 (GRCm39)	H80Q	probably benign	Het
Itpr3	A	G	17: 27,308,013 (GRCm39)	T267A	probably damaging	Het
Kidins220	T	A	12: 25,042,268 (GRCm39)	H146Q	possibly damaging	Het
Larp4	T	C	15: 99,891,258 (GRCm39)	F228L	probably benign	Het
Ltbp1	T	A	17: 75,659,712 (GRCm39)	V1288E	probably damaging	Het
Madd	T	C	2: 91,008,321 (GRCm39)	T194A	possibly damaging	Het
Mlana	G	A	19: 29,682,072 (GRCm39)	G42S	probably benign	Het
Mlxipl	A	G	5: 135,161,972 (GRCm39)	E548G	possibly damaging	Het
Mmab	A	T	5: 114,573,283 (GRCm39)	C228S	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Numbl	A	G	7: 26,971,412 (GRCm39)		probably null	Het
Or12e13	T	A	2: 87,663,872 (GRCm39)	I163K	probably damaging	Het
Or13c7	A	G	4: 43,854,482 (GRCm39)	T58A	probably benign	Het
Or5bw2	C	T	7: 6,572,960 (GRCm39)		probably benign	Het
Or5v1b	T	A	17: 37,841,480 (GRCm39)	I204N	probably damaging	Het
Or6c3b	G	T	10: 129,527,789 (GRCm39)	N40K	probably damaging	Het
Or9g8	T	A	2: 85,607,153 (GRCm39)	V75D	probably damaging	Het
Papln	G	A	12: 83,818,947 (GRCm39)	D96N	probably damaging	Het
Pcdhb14	T	C	18: 37,582,645 (GRCm39)	Y584H	probably damaging	Het
Pde7b	T	C	10: 20,288,761 (GRCm39)	D310G	possibly damaging	Het
Plin5	T	A	17: 56,420,975 (GRCm39)	H230L	probably damaging	Het
Ppp1r13l	A	C	7: 19,102,726 (GRCm39)	E47A	possibly damaging	Het
Prdm5	C	T	6: 65,904,976 (GRCm39)	H536Y	probably damaging	Het
Prickle2	T	C	6: 92,353,451 (GRCm39)	R728G	possibly damaging	Het
Prkca	A	T	11: 107,874,820 (GRCm39)	V374E	possibly damaging	Het
Prss3	A	T	6: 41,352,044 (GRCm39)	L73*	probably null	Het
Prss51	G	A	14: 64,333,489 (GRCm39)	D33N	probably damaging	Het
Rfwd3	A	G	8: 112,006,659 (GRCm39)	V479A	probably damaging	Het
Rpl36a-ps1	G	A	14: 99,231,666 (GRCm39)	T24I	probably benign	Het
Rps6ka5	T	C	12: 100,582,327 (GRCm39)	I182V	possibly damaging	Het
Saa2	T	A	7: 46,402,933 (GRCm39)	D61E	probably damaging	Het
Samd3	A	T	10: 26,106,006 (GRCm39)	I22F	probably benign	Het
Sap130	C	T	18: 31,800,057 (GRCm39)	P403L	probably damaging	Het
Sap130	A	G	18: 31,844,268 (GRCm39)	T813A	probably damaging	Het
Scfd2	A	G	5: 74,372,988 (GRCm39)	F629S	probably damaging	Het
Sec61a1	A	T	6: 88,489,585 (GRCm39)	F119I	probably benign	Het
Serpinb9	T	A	13: 33,194,768 (GRCm39)	F175I	probably damaging	Het
Slc12a3	G	T	8: 95,092,477 (GRCm39)	C966F	probably damaging	Het
Sptbn4	A	G	7: 27,127,693 (GRCm39)	V169A	probably benign	Het
Synj1	A	G	16: 90,735,565 (GRCm39)	S1463P	probably benign	Het
Tfec	T	A	6: 16,835,232 (GRCm39)	H182L	probably benign	Het
Tigd5	T	C	15: 75,782,268 (GRCm39)	V210A	probably benign	Het
Tssc4	G	A	7: 142,623,718 (GRCm39)	E9K	possibly damaging	Het
Txk	C	G	5: 72,893,726 (GRCm39)	C18S	unknown	Het
Uaca	G	A	9: 60,757,487 (GRCm39)		probably null	Het
Vmn2r1	A	C	3: 63,993,922 (GRCm39)	K89N	probably damaging	Het
Zfp160	G	A	17: 21,246,655 (GRCm39)	E402K	probably benign	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
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'- TGAAGGACCAGAGCCAGTTG -3'
(R):5'- GTGATTCCAAAATCTGCTGCC -3'

Sequencing Primer
(F):5'- AGAGCCAGTTGCCCGAG -3'
(R):5'- GATTCCAAAATCTGCTGCCTTTCTTC -3'

Posted On

2019-10-17