Mutagenetix > Incidental Mutations

Incidental Mutation 'R7334:Nrf1'

569359

Institutional Source

Beutler Lab

Gene Symbol

Nrf1

Ensembl Gene

ENSMUSG00000058440

Gene Name

nuclear respiratory factor 1

Synonyms

D6Ertd415e

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30047988-30153458 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30118971 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 363 (L363S)

Ref Sequence

ENSEMBL: ENSMUSP00000110867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004761] [ENSMUST00000069808] [ENSMUST00000069831] [ENSMUST00000115199] [ENSMUST00000115200] [ENSMUST00000115204] [ENSMUST00000115206] [ENSMUST00000115208] [ENSMUST00000115209] [ENSMUST00000115211] [ENSMUST00000115212] [ENSMUST00000167972] [ENSMUST00000170535]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004761
AA Change: L363S

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004761
Gene: ENSMUSG00000058440
AA Change: L363S

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 damaging
Transcript: ENSMUST00000069808
AA Change: L363S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000065568
Gene: ENSMUSG00000058440
AA Change: L363S

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

possibly damaging
Transcript: ENSMUST00000069831
AA Change: L375S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000067447
Gene: ENSMUSG00000058440
AA Change: L375S

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

possibly damaging
Transcript: ENSMUST00000115199
AA Change: L375S

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110853
Gene: ENSMUSG00000058440
AA Change: L375S

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

possibly damaging
Transcript: ENSMUST00000115200
AA Change: L363S

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110854
Gene: ENSMUSG00000058440
AA Change: L363S

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 damaging
Transcript: ENSMUST00000115204
AA Change: L363S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110858
Gene: ENSMUSG00000058440
AA Change: L363S

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 damaging
Transcript: ENSMUST00000115206
AA Change: L363S

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000110860
Gene: ENSMUSG00000058440
AA Change: L363S

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

possibly damaging
Transcript: ENSMUST00000115208
AA Change: L363S

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110863
Gene: ENSMUSG00000058440
AA Change: L363S

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: L363S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110864
Gene: ENSMUSG00000058440
AA Change: L363S

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: L363S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110866
Gene: ENSMUSG00000058440
AA Change: L363S

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: ENSMUST00000115212
AA Change: L363S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110867
Gene: ENSMUSG00000058440
AA Change: L363S

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: L101S

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: L363S

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130108
Gene: ENSMUSG00000058440
AA Change: L363S

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 damaging
Transcript: ENSMUST00000170535
AA Change: L363S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000132637
Gene: ENSMUSG00000058440
AA Change: L363S

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	T	3: 153,939,061	S9*	probably null	Het
Acot10	C	T	15: 20,665,543	V371I	possibly damaging	Het
Adam8	T	C	7: 139,988,990	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,551,252	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,621,711	V162E	probably damaging	Het
Alms1	A	G	6: 85,641,450	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,184,460	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,243,177	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,919,734	D34E	probably damaging	Het
Cacfd1	C	T	2: 27,015,546	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,721,600	S345I	probably benign	Het
Clca3b	G	A	3: 144,836,656	R462*	probably null	Het
Cyp26c1	G	A	19: 37,688,875	V251I	probably benign	Het
Dip2a	A	G	10: 76,274,246	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,127,006	L27P	probably damaging	Het
Dock7	A	G	4: 98,975,943	V1288A	unknown	Het
Elmod1	A	T	9: 53,934,224		probably null	Het
Epb41l5	T	G	1: 119,623,949	K102T	probably damaging	Het
Fam92b	T	C	8: 120,174,850	T39A	probably damaging	Het
Fermt3	T	C	19: 7,003,038	I358V	probably benign	Het
Frmd3	A	G	4: 74,161,718	I316V	probably benign	Het
Fryl	T	C	5: 73,047,496		probably null	Het
Gm12394	G	A	4: 42,793,856	T92I	possibly damaging	Het
Gm4131	T	A	14: 62,464,907	H204L	possibly damaging	Het
Gm8298	T	A	3: 59,868,959	C184S	probably damaging	Het
Hmcn2	G	A	2: 31,435,794	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,453,135	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,760,124	T25A	probably benign	Het
Kcp	T	C	6: 29,485,512	E1161G	probably damaging	Het
Macf1	A	T	4: 123,399,442	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,006,718	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,368,370	V270E	probably damaging	Het
Mroh1	A	G	15: 76,427,638	I524V	probably benign	Het
Mta1	T	C	12: 113,126,798	S175P	possibly damaging	Het
Myo7a	C	T	7: 98,079,366	R800H	probably benign	Het
Ncald	T	A	15: 37,397,280	Y52F	probably damaging	Het
Nomo1	T	C	7: 46,083,268	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,487,037	F66L	probably benign	Het
Olfr732	C	A	14: 50,281,579	V225F	probably benign	Het
Olfr875	A	T	9: 37,772,997	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,344,906	M300T	possibly damaging	Het
Parpbp	T	A	10: 88,111,755	N339I	probably damaging	Het
Pdlim5	A	T	3: 142,244,917	H578Q	probably damaging	Het
Pear1	T	C	3: 87,750,225	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,311,503	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,599,681	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 29,293,262	S130P	probably damaging	Het
Prss12	A	C	3: 123,487,131	L488F	probably benign	Het
Psd3	C	T	8: 67,908,705	V559I	possibly damaging	Het
Rrh	T	C	3: 129,808,982	T364A	probably benign	Het
Shcbp1	A	T	8: 4,741,876	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,754,310	F200C	probably damaging	Het
Slc9a3r1	C	T	11: 115,163,767	A81V	possibly damaging	Het
Slx1b	G	T	7: 126,692,527	R122S	probably damaging	Het
Spidr	A	G	16: 16,114,825		probably null	Het
St18	G	A	1: 6,802,559	D173N	probably benign	Het
Stambpl1	T	C	19: 34,226,648	I46T	probably damaging	Het
Syne1	C	T	10: 5,057,886	D113N	probably damaging	Het
Tg	G	A	15: 66,725,272	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,195,275	W1544R	probably benign	Het
Tiam2	G	A	17: 3,503,008	R1120H	possibly damaging	Het
Tinag	A	T	9: 77,001,649	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,293,089	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,443,817	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,827,129	A309T	possibly damaging	Het
Txndc11	A	G	16: 11,128,561	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,415,681	F974S	possibly damaging	Het
Utrn	C	A	10: 12,728,009		probably null	Het
Vmn1r58	T	A	7: 5,411,067	M55L	probably benign	Het
Vnn1	T	A	10: 23,900,760	S336R	probably benign	Het
Wwc2	T	C	8: 47,869,794	Y424C	unknown	Het
Zfp507	T	C	7: 35,776,080	I903V	probably damaging	Het
Zfp551	C	T	7: 12,416,754	G243R	probably damaging	Het
Zfp60	T	A	7: 27,749,019	C371S	probably damaging	Het

Other mutations in Nrf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Nrf1	APN	6	30098478	missense	probably damaging	1.00
IGL00909:Nrf1	APN	6	30098478	missense	probably damaging	1.00
IGL01556:Nrf1	APN	6	30126367	intron	probably benign
IGL02371:Nrf1	APN	6	30118991	missense	possibly damaging	0.90
IGL03345:Nrf1	APN	6	30089948	missense	probably damaging	0.99
R1892:Nrf1	UTSW	6	30144788	missense	probably null
R4097:Nrf1	UTSW	6	30151672	nonsense	probably null
R5347:Nrf1	UTSW	6	30118968	missense	probably benign	0.05
R5607:Nrf1	UTSW	6	30126246	missense	probably damaging	1.00
R5654:Nrf1	UTSW	6	30117062	missense	probably benign	0.22
R5851:Nrf1	UTSW	6	30089976	missense	possibly damaging	0.92
R6470:Nrf1	UTSW	6	30102200	missense	probably damaging	0.99
R7106:Nrf1	UTSW	6	30102184	missense	probably benign
R7476:Nrf1	UTSW	6	30116272	missense	probably damaging	1.00
R7510:Nrf1	UTSW	6	30151634	missense	possibly damaging	0.94
R7625:Nrf1	UTSW	6	30116231	missense	probably benign	0.20
R7882:Nrf1	UTSW	6	30090300	missense	probably benign	0.01
R7965:Nrf1	UTSW	6	30090300	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- CTTTTAGTCTTCCAGAACTACTTGG -3'
(R):5'- TTAGCACAGGCCTGCAATCC -3'

Sequencing Primer
(F):5'- CTTCCAGAACTACTTGGTATAGACAC -3'
(R):5'- AGGCCTGCAATCCCAGTC -3'

Posted On

2019-09-13