Mutagenetix > Incidental Mutation

Incidental Mutation 'R7624:Nfe2l3'

589316

Institutional Source

Beutler Lab

Gene Symbol

Nfe2l3

Ensembl Gene

ENSMUSG00000029832

Gene Name

nuclear factor, erythroid derived 2, like 3

Synonyms

Nrf3

MMRRC Submission

045689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7624 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51409650-51435748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51435252 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 604 (L604P)

Ref Sequence

ENSEMBL: ENSMUSP00000005103 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005103] [ENSMUST00000069949] [ENSMUST00000090002] [ENSMUST00000114459] [ENSMUST00000160133] [ENSMUST00000203220] [ENSMUST00000203954] [ENSMUST00000204158] [ENSMUST00000204188]

AlphaFold

Q9WTM4

Predicted Effect

probably damaging
Transcript: ENSMUST00000005103
AA Change: L604P

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

SMART Domains

Protein: ENSMUSP00000005103
Gene: ENSMUSG00000029832
AA Change: L604P

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 benign
Transcript: ENSMUST00000069949

SMART Domains

Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	5.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000090002

SMART Domains

Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114459

SMART Domains

Protein: ENSMUSP00000110103
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160133

SMART Domains

Protein: ENSMUSP00000124920
Gene: ENSMUSG00000029832

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203220

SMART Domains

Protein: ENSMUSP00000145374
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203954

SMART Domains

Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	22	94	1.51e-23	SMART
RRM	113	185	7.64e-20	SMART
low complexity region	198	307	N/A	INTRINSIC
low complexity region	322	353	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204158

SMART Domains

Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	9.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204188

SMART Domains

Protein: ENSMUSP00000145245
Gene: ENSMUSG00000004980

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	9.5e-19	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atm	C	A	9: 53,366,068 (GRCm39)	R2533L	probably damaging	Het
Caprin1	T	A	2: 103,603,022 (GRCm39)	M514L	possibly damaging	Het
Ccdc78	A	G	17: 26,006,126 (GRCm39)	E98G	probably damaging	Het
Cmya5	A	T	13: 93,226,865 (GRCm39)	M2741K	possibly damaging	Het
Cnot1	T	G	8: 96,478,447 (GRCm39)	R959S	probably damaging	Het
Col12a1	G	T	9: 79,553,076 (GRCm39)		probably null	Het
Col4a3	A	G	1: 82,696,605 (GRCm39)	T177A	probably benign	Het
Cpa3	T	C	3: 20,279,307 (GRCm39)	N211D	possibly damaging	Het
Cripto	C	T	9: 110,775,017 (GRCm39)		probably benign	Het
Cryba1	T	C	11: 77,613,543 (GRCm39)	Y36C	probably damaging	Het
Ctnna1	T	A	18: 35,377,897 (GRCm39)	I632N	probably benign	Het
D630045J12Rik	T	C	6: 38,126,498 (GRCm39)	N1504S	probably damaging	Het
Dgkz	C	A	2: 91,773,019 (GRCm39)	R346L	probably damaging	Het
Dnajc21	G	A	15: 10,461,318 (GRCm39)	R211C	probably benign	Het
Dnajc21	A	T	15: 10,461,320 (GRCm39)	I210N	probably damaging	Het
Dscam	T	C	16: 96,411,524 (GRCm39)	D1784G	probably damaging	Het
Eya3	A	G	4: 132,400,262 (GRCm39)	T94A	probably benign	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fat3	T	C	9: 15,871,165 (GRCm39)	D3742G	possibly damaging	Het
Ficd	T	C	5: 113,876,751 (GRCm39)	F309L	probably benign	Het
Gfra1	A	T	19: 58,226,878 (GRCm39)	M451K	probably benign	Het
Gm43517	T	A	12: 49,437,961 (GRCm39)	L318Q		Het
Gsc	A	T	12: 104,439,310 (GRCm39)	V22E	possibly damaging	Het
Il4ra	T	C	7: 125,168,280 (GRCm39)	Y100H	probably damaging	Het
Ilf3	T	C	9: 21,309,340 (GRCm39)	S486P	probably benign	Het
Itga10	T	A	3: 96,560,269 (GRCm39)	H594Q	probably benign	Het
Kcnf1	T	C	12: 17,226,137 (GRCm39)	D28G	probably benign	Het
Kiss1	A	G	1: 133,257,160 (GRCm39)	K53R	possibly damaging	Het
Lcn5	A	G	2: 25,551,426 (GRCm39)	I182V	probably benign	Het
Lcorl	T	C	5: 45,859,307 (GRCm39)	D269G	probably benign	Het
Letm2	A	T	8: 26,082,553 (GRCm39)	C174*	probably null	Het
Met	T	G	6: 17,558,834 (GRCm39)	V1154G	probably damaging	Het
Mindy3	A	G	2: 12,424,000 (GRCm39)	S22P	probably benign	Het
Mroh2b	G	A	15: 4,946,613 (GRCm39)	R471Q	probably damaging	Het
Or12e10	A	G	2: 87,640,683 (GRCm39)	Q173R	probably damaging	Het
Or14a256	A	G	7: 86,265,769 (GRCm39)	F28S	possibly damaging	Het
Or5h18	T	A	16: 58,847,382 (GRCm39)	Q296L	possibly damaging	Het
Or8b3b	C	T	9: 38,583,919 (GRCm39)	V274I	probably benign	Het
Or8u9	A	T	2: 86,001,564 (GRCm39)	I199N	possibly damaging	Het
Or9r7	A	C	10: 129,962,455 (GRCm39)	I157S	probably damaging	Het
Pcdha9	T	A	18: 37,132,849 (GRCm39)	Y639*	probably null	Het
Pom121l2	A	T	13: 22,167,699 (GRCm39)	I657L	probably damaging	Het
Prr14l	T	A	5: 32,986,967 (GRCm39)	T843S	possibly damaging	Het
Rln1	A	T	19: 29,309,499 (GRCm39)	N93K	probably damaging	Het
Rpl3l	A	T	17: 24,951,401 (GRCm39)	M101L	probably benign	Het
Rtkn	A	G	6: 83,129,158 (GRCm39)	Y551C	probably benign	Het
Rundc1	G	C	11: 101,324,305 (GRCm39)	R337P	possibly damaging	Het
Scarf1	T	A	11: 75,405,242 (GRCm39)		probably null	Het
Serpinb1b	T	A	13: 33,275,622 (GRCm39)		probably null	Het
Sgsm1	A	T	5: 113,422,201 (GRCm39)	C484*	probably null	Het
Slc22a19	T	A	19: 7,650,668 (GRCm39)	K547*	probably null	Het
Slc22a19	T	C	19: 7,671,183 (GRCm39)	T177A	probably benign	Het
Slc6a5	A	C	7: 49,591,614 (GRCm39)	K526N	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stard9	T	C	2: 120,518,627 (GRCm39)	I517T	probably benign	Het
Taf15	A	T	11: 83,395,849 (GRCm39)	D518V	unknown	Het
Tenm4	A	G	7: 96,545,192 (GRCm39)	M2440V	possibly damaging	Het
Tm6sf1	A	G	7: 81,518,458 (GRCm39)	M122V	possibly damaging	Het
Tmprss9	T	A	10: 80,728,053 (GRCm39)	S548T	possibly damaging	Het
Trim62	A	T	4: 128,777,471 (GRCm39)		probably benign	Het
Ugt2b34	C	T	5: 87,039,141 (GRCm39)	V507M	possibly damaging	Het
Usp16	T	A	16: 87,273,693 (GRCm39)	M423K	probably benign	Het
Vmn1r199	T	A	13: 22,566,906 (GRCm39)	S67T	probably benign	Het
Vmn1r62	A	T	7: 5,678,600 (GRCm39)	M94L	probably benign	Het
Wnk4	G	T	11: 101,155,180 (GRCm39)	E364*	probably null	Het
Xpo1	T	A	11: 23,232,584 (GRCm39)	I368N	probably damaging	Het
Zfp366	A	G	13: 99,382,804 (GRCm39)	T656A	probably benign	Het
Zfp934	T	C	13: 62,666,338 (GRCm39)	M113V	probably benign	Het
Zkscan2	A	G	7: 123,097,994 (GRCm39)	V134A	probably 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
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
R9146:Nfe2l3	UTSW	6	51,410,172 (GRCm39)	missense	probably damaging	0.99
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'- AGTGTCTCTCATCCGTGATATCAG -3'
(R):5'- ACAGTTTGTGATGCTGGTCAC -3'

Sequencing Primer
(F):5'- TCTCATCCGTGATATCAGGCGAAG -3'
(R):5'- CTGGTCACTGGAGCTATTCAG -3'

Posted On

2019-10-24