Mutagenetix > Incidental Mutation

Incidental Mutation 'R9146:Nfe2l3'

694636

Institutional Source

Beutler Lab

Gene Symbol

Nfe2l3

Ensembl Gene

ENSMUSG00000029832

Gene Name

nuclear factor, erythroid derived 2, like 3

Synonyms

Nrf3

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9146 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51409650-51435748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 51410172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 96 (A96S)

Ref Sequence

ENSEMBL: ENSMUSP00000005103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005103] [ENSMUST00000160133]

AlphaFold

Q9WTM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000005103
AA Change: A96S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000005103
Gene: ENSMUSG00000029832
AA Change: A96S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	117	134	N/A	INTRINSIC
low complexity region	145	155	N/A	INTRINSIC
low complexity region	390	405	N/A	INTRINSIC
BRLZ	539	603	3.68e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000160133
AA Change: A96S

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124920
Gene: ENSMUSG00000029832
AA Change: A96S

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	117	134	N/A	INTRINSIC
low complexity region	145	155	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (54/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	G	A	5: 137,289,077 (GRCm39)	G261D	probably damaging	Het
Adgrv1	T	A	13: 81,561,291 (GRCm39)	T5408S	probably benign	Het
Aff3	T	C	1: 38,359,200 (GRCm39)	N362D	probably benign	Het
Aff4	A	G	11: 53,298,963 (GRCm39)	N956S	probably benign	Het
Alg10b	A	G	15: 90,112,401 (GRCm39)	E415G	probably damaging	Het
Ate1	T	C	7: 130,069,022 (GRCm39)	Y415C	probably damaging	Het
Cage1	T	C	13: 38,207,005 (GRCm39)	D280G	probably benign	Het
Catsperg1	G	C	7: 28,909,912 (GRCm39)	P72R	probably benign	Het
Cep290	A	G	10: 100,377,665 (GRCm39)	E1565G	probably benign	Het
Csmd1	T	A	8: 16,048,832 (GRCm39)	Y2290F	probably benign	Het
Cyp2c39	A	T	19: 39,527,344 (GRCm39)	H230L		Het
Efhb	A	G	17: 53,769,644 (GRCm39)	S222P	probably benign	Het
Emilin2	G	A	17: 71,581,331 (GRCm39)	T465M	probably damaging	Het
Ep400	A	T	5: 110,849,635 (GRCm39)	Y1431*	probably null	Het
Gm10912	T	C	2: 103,897,053 (GRCm39)	V64A	possibly damaging	Het
Gpat2	T	C	2: 127,273,206 (GRCm39)	S197P	possibly damaging	Het
Hc	T	C	2: 34,924,571 (GRCm39)	Y452C	probably damaging	Het
Hectd4	T	C	5: 121,487,097 (GRCm39)	I3364T	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,194,000 (GRCm39)		probably benign	Het
Hmcn1	G	A	1: 150,474,141 (GRCm39)	T4767M	probably benign	Het
Hspa4l	A	G	3: 40,736,101 (GRCm39)	D595G	probably benign	Het
Kdm1a	G	T	4: 136,329,739 (GRCm39)	T53K	unknown	Het
Kirrel1	T	C	3: 87,003,015 (GRCm39)	D126G	probably damaging	Het
Kit	T	A	5: 75,810,305 (GRCm39)	D822E	probably damaging	Het
Kiz	C	T	2: 146,705,740 (GRCm39)	T100M	probably benign	Het
Kmt2a	T	A	9: 44,725,938 (GRCm39)	K3663*	probably null	Het
Krt8	T	A	15: 101,907,370 (GRCm39)	I238F	probably damaging	Het
Ky	C	T	9: 102,419,405 (GRCm39)	P471S		Het
Lca5l	T	C	16: 95,960,998 (GRCm39)	E493G	probably damaging	Het
Lrrc2	C	T	9: 110,808,582 (GRCm39)	T273I	probably damaging	Het
Mcoln2	T	C	3: 145,869,303 (GRCm39)	S31P	probably benign	Het
Mmp1a	A	G	9: 7,464,997 (GRCm39)	D77G	probably damaging	Het
Mrgprb8	T	A	7: 48,039,200 (GRCm39)	C290*	probably null	Het
Notch2	A	G	3: 98,011,854 (GRCm39)	D624G	probably damaging	Het
Nup98	C	A	7: 101,788,037 (GRCm39)	R1011L	probably benign	Het
Nxt2	C	T	X: 141,020,747 (GRCm39)	A118V	possibly damaging	Het
Or52n2	T	A	7: 104,542,452 (GRCm39)	I128F	probably damaging	Het
Or6c7	T	C	10: 129,323,392 (GRCm39)	V171A	possibly damaging	Het
Pcdh10	G	A	3: 45,334,351 (GRCm39)	A222T	probably benign	Het
Piezo1	G	A	8: 123,227,002 (GRCm39)	H420Y		Het
Pik3r1	C	A	13: 101,825,136 (GRCm39)		probably benign	Het
Plcb1	T	A	2: 135,182,615 (GRCm39)	Y642N	probably damaging	Het
Ralgapa2	T	A	2: 146,184,252 (GRCm39)	H1538L	probably benign	Het
Raph1	A	G	1: 60,558,137 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,334,499 (GRCm39)	F3237S		Het
Sctr	A	G	1: 119,982,010 (GRCm39)	D286G	probably damaging	Het
Smyd3	A	G	1: 178,920,529 (GRCm39)	S202P	probably damaging	Het
Ssh2	G	A	11: 77,328,502 (GRCm39)	G356E	probably damaging	Het
Stat3	A	T	11: 100,784,492 (GRCm39)	S629R	probably benign	Het
Stc2	A	G	11: 31,317,847 (GRCm39)	V58A	probably damaging	Het
Tcerg1l	T	A	7: 137,831,588 (GRCm39)	D463V	probably damaging	Het
Tctn1	A	G	5: 122,389,745 (GRCm39)	V259A	possibly damaging	Het
Tmem248	A	G	5: 130,260,851 (GRCm39)	T139A	probably benign	Het
Trip12	G	T	1: 84,771,881 (GRCm39)	A89E	possibly damaging	Het
Vmn2r54	C	T	7: 12,366,647 (GRCm39)	V96I	probably benign	Het
Vmn2r79	C	T	7: 86,650,681 (GRCm39)	Q156*	probably null	Het
Zfp831	C	A	2: 174,487,461 (GRCm39)	T712N	possibly damaging	Het
Zfy1	A	T	Y: 726,033 (GRCm39)	H577Q	possibly damaging	Het
Zscan4-ps2	T	G	7: 11,251,679 (GRCm39)	S238R	possibly damaging	Het

Other mutations in Nfe2l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02705:Nfe2l3	APN	6	51,410,098 (GRCm39)	missense	probably damaging	0.96
IGL02803:Nfe2l3	APN	6	51,434,291 (GRCm39)	missense	possibly damaging	0.50
R0277:Nfe2l3	UTSW	6	51,434,448 (GRCm39)	missense	probably benign	0.30
R0693:Nfe2l3	UTSW	6	51,410,034 (GRCm39)	missense	possibly damaging	0.94
R1397:Nfe2l3	UTSW	6	51,410,274 (GRCm39)	missense	probably benign	0.00
R1455:Nfe2l3	UTSW	6	51,434,744 (GRCm39)	missense	possibly damaging	0.91
R1541:Nfe2l3	UTSW	6	51,434,585 (GRCm39)	missense	probably damaging	0.98
R1753:Nfe2l3	UTSW	6	51,410,392 (GRCm39)	missense	probably null	0.96
R1946:Nfe2l3	UTSW	6	51,434,295 (GRCm39)	missense	probably damaging	1.00
R2034:Nfe2l3	UTSW	6	51,435,350 (GRCm39)	missense	possibly damaging	0.50
R3807:Nfe2l3	UTSW	6	51,434,357 (GRCm39)	nonsense	probably null
R3932:Nfe2l3	UTSW	6	51,433,595 (GRCm39)	missense	possibly damaging	0.94
R4271:Nfe2l3	UTSW	6	51,433,614 (GRCm39)	missense	probably damaging	0.99
R4604:Nfe2l3	UTSW	6	51,427,992 (GRCm39)	missense	probably damaging	0.99
R4816:Nfe2l3	UTSW	6	51,433,604 (GRCm39)	missense	probably damaging	0.99
R5765:Nfe2l3	UTSW	6	51,434,226 (GRCm39)	missense	probably damaging	1.00
R5893:Nfe2l3	UTSW	6	51,434,832 (GRCm39)	missense	probably damaging	1.00
R7378:Nfe2l3	UTSW	6	51,434,276 (GRCm39)	nonsense	probably null
R7490:Nfe2l3	UTSW	6	51,434,524 (GRCm39)	missense	possibly damaging	0.65
R7624:Nfe2l3	UTSW	6	51,435,252 (GRCm39)	missense	probably damaging	1.00
R8210:Nfe2l3	UTSW	6	51,428,065 (GRCm39)	missense	probably benign	0.00
R8678:Nfe2l3	UTSW	6	51,435,153 (GRCm39)	missense	possibly damaging	0.54
R9071:Nfe2l3	UTSW	6	51,434,243 (GRCm39)	missense	probably benign	0.01
R9625:Nfe2l3	UTSW	6	51,434,925 (GRCm39)	missense	probably damaging	0.99
Z1177:Nfe2l3	UTSW	6	51,410,277 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- CACTTTGGGAAGAGCTGCTC -3'
(R):5'- AGTTCTTTCTGCCCTGGAGG -3'

Sequencing Primer
(F):5'- AAGAGCTGCTCCCACTCTG -3'
(R):5'- AGGGCGTAGACGTGCTTCTC -3'

Posted On

2022-01-20