Mutagenetix > Incidental Mutation

Incidental Mutation 'R6142:Nfe2l2'

488610

Institutional Source

Beutler Lab

Gene Symbol

Nfe2l2

Ensembl Gene

ENSMUSG00000015839

Gene Name

nuclear factor, erythroid derived 2, like 2

Synonyms

Nrf2

MMRRC Submission

044289-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.872) question?

Stock #

R6142 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

75505857-75534985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75509761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 20 (I20V)

Ref Sequence

ENSEMBL: ENSMUSP00000099733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102672]

AlphaFold

Q60795

PDB Structure

Structural basis for the defects of human lung cancer somatic mutations in the repression activity of Keap1 on Nrf2 [X-RAY DIFFRACTION]
Crystal structure of the Keap1 protein in complexed with the N-terminal region of the Nrf2 transcription factor [X-RAY DIFFRACTION]
Crystal Structure of Keap1 in Complex with the N-terminal region of the Nrf2 transcription factor [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102672
AA Change: I20V

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

SMART Domains

Protein: ENSMUSP00000099733
Gene: ENSMUSG00000015839
AA Change: I20V

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	17	42	8e-10	PDB
low complexity region	43	68	N/A	INTRINSIC
BRLZ	487	551	6.46e-9	SMART

Meta Mutation Damage Score

0.2881

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.2%

Validation Efficiency

100% (48/48)

MGI Phenotype

FUNCTION: This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to oxidative stress in a variety of organs and cells including brain, liver, erythrocytes, and spleen, abnormal tooth enamel, and abnormal response to various injuries, chemical treatments, and induced inflammatory diseases. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	T	C	15: 98,496,303 (GRCm39)	M579V	probably benign	Het
Agtr1b	T	C	3: 20,370,558 (GRCm39)	D16G	probably benign	Het
Akap12	C	A	10: 4,263,740 (GRCm39)		probably null	Het
Alpk2	T	C	18: 65,438,456 (GRCm39)	E979G	possibly damaging	Het
Arfgap3	T	C	15: 83,234,328 (GRCm39)	D8G	probably damaging	Het
AW551984	G	T	9: 39,508,410 (GRCm39)	L369I	probably benign	Het
Bmp8b	A	T	4: 123,009,043 (GRCm39)	H207L	probably benign	Het
Cc2d2a	G	T	5: 43,860,540 (GRCm39)	V490F	probably damaging	Het
Cnot6l	C	T	5: 96,230,837 (GRCm39)	V377I	probably benign	Het
Col25a1	T	A	3: 130,376,978 (GRCm39)		probably benign	Het
Crocc2	C	G	1: 93,118,201 (GRCm39)	Q375E	possibly damaging	Het
Ganc	T	C	2: 120,261,218 (GRCm39)		probably null	Het
Gm28168	C	A	1: 117,875,678 (GRCm39)	D102E	probably benign	Het
Gm8212	T	C	14: 44,438,684 (GRCm39)		probably null	Het
Gria2	T	C	3: 80,709,024 (GRCm39)	T53A	probably benign	Het
Hipk4	G	A	7: 27,228,590 (GRCm39)	V347M	probably damaging	Het
Hmgxb3	T	C	18: 61,269,309 (GRCm39)	E991G	probably benign	Het
Hyal1	G	A	9: 107,456,573 (GRCm39)	R420H	probably benign	Het
Il5	G	A	11: 53,611,805 (GRCm39)		probably null	Het
Kcnh7	T	C	2: 62,569,704 (GRCm39)	I731V	possibly damaging	Het
Lamb2	A	T	9: 108,362,817 (GRCm39)	K759*	probably null	Het
Lnpep	A	G	17: 17,786,943 (GRCm39)		probably null	Het
Lrch1	T	C	14: 75,184,940 (GRCm39)	E54G	probably damaging	Het
Msl3l2	A	G	10: 55,991,461 (GRCm39)	D62G	possibly damaging	Het
Mslnl	T	C	17: 25,963,531 (GRCm39)	L339P	probably damaging	Het
Pgm5	A	C	19: 24,801,772 (GRCm39)	I152S	probably damaging	Het
Plcg2	C	A	8: 118,312,010 (GRCm39)	T434K	probably benign	Het
Prrc2c	T	C	1: 162,537,956 (GRCm39)	E558G	unknown	Het
Ranbp3	T	C	17: 56,993,018 (GRCm39)	V12A	probably benign	Het
Rgsl1	A	G	1: 153,687,984 (GRCm39)	V635A	probably benign	Het
Rpap2	T	C	5: 107,746,164 (GRCm39)	V14A	probably benign	Het
Rxrg	G	T	1: 167,460,191 (GRCm39)	A341S	possibly damaging	Het
Sbf2	A	G	7: 109,948,182 (GRCm39)	S1177P	probably damaging	Het
Sema6a	T	C	18: 47,414,266 (GRCm39)	T498A	probably benign	Het
Slc13a4	G	A	6: 35,278,718 (GRCm39)	A57V	probably damaging	Het
Slc6a3	A	T	13: 73,692,902 (GRCm39)	D174V	probably benign	Het
Spart	T	G	3: 55,024,669 (GRCm39)	V88G	probably damaging	Het
Tanc1	A	T	2: 59,663,566 (GRCm39)	R1108*	probably null	Het
Tas2r140	C	T	6: 133,032,698 (GRCm39)	G20E	probably damaging	Het
Tdrd6	A	G	17: 43,940,373 (GRCm39)	V225A	probably benign	Het
Tmem168	C	A	6: 13,591,368 (GRCm39)	A99S	probably benign	Het
Tnk2	T	A	16: 32,488,917 (GRCm39)	D252E	probably damaging	Het
Tpsg1	A	T	17: 25,591,460 (GRCm39)	H20L	probably benign	Het
Tram1l1	T	C	3: 124,115,092 (GRCm39)	F84S	probably damaging	Het
Vmn2r12	T	A	5: 109,240,763 (GRCm39)	I117L	probably benign	Het
Zfp148	T	C	16: 33,315,829 (GRCm39)	L219S	possibly damaging	Het
Zfp40	C	A	17: 23,395,311 (GRCm39)	E425D	probably benign	Het
Zfp773	T	C	7: 7,135,481 (GRCm39)	T372A	probably benign	Het

Other mutations in Nfe2l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00807:Nfe2l2	APN	2	75,509,757 (GRCm39)	missense	probably damaging	1.00
IGL00931:Nfe2l2	APN	2	75,506,342 (GRCm39)	missense	probably damaging	1.00
IGL02207:Nfe2l2	APN	2	75,508,869 (GRCm39)	missense	probably damaging	1.00
IGL03356:Nfe2l2	APN	2	75,509,544 (GRCm39)	missense	probably benign	0.00
Scarlett	UTSW	2	75,509,757 (GRCm39)	missense	probably damaging	1.00
R0582:Nfe2l2	UTSW	2	75,507,112 (GRCm39)	missense	probably damaging	1.00
R0782:Nfe2l2	UTSW	2	75,507,177 (GRCm39)	missense	probably benign	0.12
R1139:Nfe2l2	UTSW	2	75,507,230 (GRCm39)	missense	probably benign	0.00
R2237:Nfe2l2	UTSW	2	75,506,898 (GRCm39)	missense	probably benign	0.03
R2239:Nfe2l2	UTSW	2	75,506,898 (GRCm39)	missense	probably benign	0.03
R4365:Nfe2l2	UTSW	2	75,509,772 (GRCm39)	missense	probably damaging	1.00
R5240:Nfe2l2	UTSW	2	75,506,353 (GRCm39)	missense	possibly damaging	0.63
R5328:Nfe2l2	UTSW	2	75,507,200 (GRCm39)	missense	probably damaging	1.00
R5666:Nfe2l2	UTSW	2	75,507,462 (GRCm39)	missense	probably benign	0.01
R5670:Nfe2l2	UTSW	2	75,507,462 (GRCm39)	missense	probably benign	0.01
R6315:Nfe2l2	UTSW	2	75,507,163 (GRCm39)	missense	probably damaging	1.00
R6520:Nfe2l2	UTSW	2	75,506,912 (GRCm39)	missense	probably benign	0.00
R7621:Nfe2l2	UTSW	2	75,509,757 (GRCm39)	missense	probably damaging	1.00
R8110:Nfe2l2	UTSW	2	75,509,765 (GRCm39)	missense	probably benign	0.03
R9748:Nfe2l2	UTSW	2	75,506,667 (GRCm39)	missense	probably damaging	1.00
Z1176:Nfe2l2	UTSW	2	75,509,508 (GRCm39)	missense	probably null	0.68
Z1177:Nfe2l2	UTSW	2	75,507,123 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- CCGGCTGAATTGGGAGGAATTC -3'
(R):5'- TCGAATGGGTAGCTAGATCTTG -3'

Sequencing Primer
(F):5'- CCTGTTTCTTCATCCAGTTGAAAC -3'
(R):5'- AGCTAGATCTTGTTGCTTTTAGC -3'

Posted On

2017-10-10