Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Nfe2l2'

284521

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfe2l2

Ensembl Gene

ENSMUSG00000015839

Gene Name

nuclear factor, erythroid derived 2, like 2

Synonyms

Nrf2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.885) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

75505857-75534985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75508869 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 122 (L122P)

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: L122P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099733
Gene: ENSMUSG00000015839
AA Change: L122P

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

Coding Region Coverage

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl2	A	G	2: 26,992,993 (GRCm39)	E702G	probably damaging	Het
Adgre5	T	C	8: 84,454,913 (GRCm39)	T260A	probably damaging	Het
Agap3	A	T	5: 24,704,934 (GRCm39)	T660S	probably benign	Het
Amotl2	A	T	9: 102,601,896 (GRCm39)	E380V	probably damaging	Het
Ap4e1	A	G	2: 126,853,736 (GRCm39)	E58G	probably damaging	Het
Arap3	G	A	18: 38,120,906 (GRCm39)	A713V	probably benign	Het
B4galt2	T	C	4: 117,738,718 (GRCm39)	D33G	probably damaging	Het
Bbs7	A	T	3: 36,658,639 (GRCm39)	S212T	probably benign	Het
Ccl26	A	G	5: 135,592,224 (GRCm39)	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261 (GRCm39)	S339C	probably benign	Het
Cd55	A	G	1: 130,380,156 (GRCm39)	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,074,577 (GRCm39)		probably null	Het
Cert1	T	C	13: 96,761,300 (GRCm39)		probably null	Het
Chrnb4	T	C	9: 54,942,500 (GRCm39)	D258G	probably damaging	Het
Commd3	T	C	2: 18,678,819 (GRCm39)		probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,381,180 (GRCm39)	R59L	probably damaging	Het
Edar	G	T	10: 58,446,343 (GRCm39)	T194K	probably damaging	Het
Edem3	A	G	1: 151,684,111 (GRCm39)	I733V	possibly damaging	Het
Elmod2	T	C	8: 84,048,135 (GRCm39)	Y109C	probably benign	Het
Eps15	C	T	4: 109,161,945 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,005,412 (GRCm39)	V1937A	probably benign	Het
Fdx2	T	A	9: 20,979,415 (GRCm39)		probably null	Het
Flg2	A	T	3: 93,127,435 (GRCm39)	I2116F	unknown	Het
Gm15091	A	G	X: 148,760,462 (GRCm39)	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,791,823 (GRCm39)		noncoding transcript	Het
Gpn2	G	A	4: 133,311,947 (GRCm39)	V60M	possibly damaging	Het
Grip1	G	A	10: 119,911,214 (GRCm39)	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,482,390 (GRCm39)	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,669,403 (GRCm39)	A294V	probably benign	Het
Herc4	G	A	10: 63,135,023 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,274,572 (GRCm39)	Y748C	probably benign	Het
Il20ra	A	G	10: 19,627,326 (GRCm39)	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,419,536 (GRCm39)		probably null	Het
Kif18a	A	T	2: 109,127,052 (GRCm39)	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,758,979 (GRCm39)	I957F	probably damaging	Het
Krt1	A	G	15: 101,757,051 (GRCm39)	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,379,434 (GRCm39)	V1768G	probably damaging	Het
Nek9	A	T	12: 85,350,257 (GRCm39)	L939*	probably null	Het
Nin	T	C	12: 70,103,431 (GRCm39)	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,097,190 (GRCm39)	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,287,927 (GRCm39)	M71V	probably benign	Het
Ocstamp	T	C	2: 165,239,583 (GRCm39)	H201R	possibly damaging	Het
Oog4	T	C	4: 143,165,510 (GRCm39)	I212M	probably benign	Het
Or11g2	G	A	14: 50,856,015 (GRCm39)	G112D	probably damaging	Het
Or12e7	A	G	2: 87,287,794 (GRCm39)	D95G	probably benign	Het
Osmr	T	C	15: 6,876,628 (GRCm39)	T99A	probably benign	Het
Pdia4	A	T	6: 47,773,741 (GRCm39)	M536K	probably benign	Het
Pdyn	A	T	2: 129,530,438 (GRCm39)	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,290,837 (GRCm39)		probably null	Het
Plcb1	A	G	2: 135,229,091 (GRCm39)	E1105G	probably damaging	Het
Rb1	A	T	14: 73,443,525 (GRCm39)	D743E	probably damaging	Het
Rdh14	G	A	12: 10,444,712 (GRCm39)	V188I	possibly damaging	Het
Scd3	T	C	19: 44,204,028 (GRCm39)	V72A	possibly damaging	Het
Shld1	A	T	2: 132,533,866 (GRCm39)		probably benign	Het
Slc25a27	G	A	17: 43,972,575 (GRCm39)	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,704,640 (GRCm39)	D394G	possibly damaging	Het
Slco1a8	A	T	6: 141,936,158 (GRCm39)	I309N	possibly damaging	Het
Snx29	T	G	16: 11,556,216 (GRCm39)	M407R	probably damaging	Het
Syf2	A	G	4: 134,662,363 (GRCm39)		probably null	Het
Syn1	T	C	X: 20,731,376 (GRCm39)	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,905,091 (GRCm39)	D602V	probably damaging	Het
Tenm4	A	T	7: 96,523,323 (GRCm39)	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785 (GRCm39)		probably benign	Het
Trav6-2	G	A	14: 52,904,889 (GRCm39)	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,272,813 (GRCm39)	S53P	probably benign	Het
Vmp1	T	A	11: 86,498,019 (GRCm39)	I299F	possibly damaging	Het
Xpot	T	C	10: 121,449,485 (GRCm39)	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,345,525 (GRCm39)		probably null	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
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
R6142:Nfe2l2	UTSW	2	75,509,761 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2015-04-16