Mutagenetix > Incidental Mutation

Incidental Mutation 'R4049:Nfe2'

314069

Institutional Source

Beutler Lab

Gene Symbol

Nfe2

Ensembl Gene

ENSMUSG00000058794

Gene Name

nuclear factor, erythroid derived 2

Synonyms

p45nf-e2, NF-E2, p45NFE2, p45

MMRRC Submission

041616-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4049 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103156640-103166809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 103159364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 36 (E36K)

Ref Sequence

ENSEMBL: ENSMUSP00000116678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075192] [ENSMUST00000131364] [ENSMUST00000132438] [ENSMUST00000132836] [ENSMUST00000133600] [ENSMUST00000134193] [ENSMUST00000134554] [ENSMUST00000149111] [ENSMUST00000154510] [ENSMUST00000156927] [ENSMUST00000230171] [ENSMUST00000230489]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000075192
AA Change: E36K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000074684
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
BRLZ	264	328	6.56e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131364
AA Change: E36K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116158
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132438
AA Change: E36K

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116079
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132836
AA Change: E36K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120256
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133600
AA Change: E59K

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121817
Gene: ENSMUSG00000058794
AA Change: E59K

Domain	Start	End	E-Value	Type
low complexity region	76	91	N/A	INTRINSIC
BRLZ	287	351	6.56e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134193
AA Change: E36K

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000123064
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000134554
AA Change: E36K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000117474
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
BRLZ	264	328	6.56e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149111
AA Change: E36K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000122476
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
BRLZ	264	328	6.56e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000154510
AA Change: E36K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116678
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156927
AA Change: E36K

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000114160
Gene: ENSMUSG00000058794
AA Change: E36K

Domain	Start	End	E-Value	Type
low complexity region	53	68	N/A	INTRINSIC
BRLZ	264	328	6.56e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000230171

Predicted Effect

probably benign
Transcript: ENSMUST00000230489

Meta Mutation Damage Score

0.1397

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation lack platelets and most die as neonates from internal bleeding. Survivors exhibit hypochromia, reticulocytosis, and splenomegaly. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	T	A	12: 118,832,404 (GRCm39)	E1190V	probably damaging	Het
Arhgef10	A	G	8: 15,029,998 (GRCm39)	T928A	probably benign	Het
Arhgef10l	T	A	4: 140,242,762 (GRCm39)	I836F	probably benign	Het
Blm	T	A	7: 80,152,610 (GRCm39)	T446S	probably benign	Het
Ccdc63	T	A	5: 122,260,813 (GRCm39)	Q237L	probably damaging	Het
Ccn5	A	G	2: 163,670,904 (GRCm39)	D137G	probably damaging	Het
Cep57l1	G	T	10: 41,605,356 (GRCm39)	R130S	probably damaging	Het
Clstn2	T	G	9: 97,339,613 (GRCm39)	E786A	possibly damaging	Het
Col16a1	C	T	4: 129,962,545 (GRCm39)	P540L	probably damaging	Het
Csf2	A	G	11: 54,140,159 (GRCm39)	F61L	probably damaging	Het
Ctr9	C	T	7: 110,654,750 (GRCm39)	R1094C	unknown	Het
Cyp3a41a	A	G	5: 145,650,350 (GRCm39)	C98R	probably damaging	Het
Dthd1	T	A	5: 62,984,508 (GRCm39)	C404*	probably null	Het
Egfem1	A	C	3: 29,740,880 (GRCm39)	H518P	probably benign	Het
Elf3	T	C	1: 135,182,015 (GRCm39)	S369G	probably benign	Het
Eml6	C	T	11: 29,788,577 (GRCm39)	V503M	probably damaging	Het
Enthd1	T	C	15: 80,444,240 (GRCm39)	D105G	probably damaging	Het
Eral1	A	G	11: 77,966,428 (GRCm39)	L250P	probably damaging	Het
Gdf15	A	T	8: 71,082,605 (GRCm39)	M167K	probably benign	Het
Ggps1	T	C	13: 14,228,284 (GRCm39)	K300E	probably benign	Het
Gm8074	G	A	9: 78,229,618 (GRCm39)		noncoding transcript	Het
Herc3	A	G	6: 58,853,822 (GRCm39)	I623V	probably damaging	Het
Mad1l1	A	G	5: 140,118,571 (GRCm39)	S457P	probably damaging	Het
Map1lc3a	G	T	2: 155,119,462 (GRCm39)	V91F	possibly damaging	Het
Map4k3	A	G	17: 80,913,394 (GRCm39)	V617A	probably benign	Het
Mov10l1	T	A	15: 88,879,235 (GRCm39)		probably benign	Het
Mroh2a	A	G	1: 88,186,386 (GRCm39)	S64G	probably benign	Het
Ncor1	G	T	11: 62,220,494 (GRCm39)		probably null	Het
Oprm1	G	A	10: 6,779,087 (GRCm39)	V95I	probably benign	Het
Or4a78	T	C	2: 89,498,006 (GRCm39)	I75V	probably benign	Het
Or4c107	A	G	2: 88,789,617 (GRCm39)	K269R	probably benign	Het
Or52d3	T	C	7: 104,229,575 (GRCm39)	F241L	probably benign	Het
Or5d46	T	C	2: 88,174,144 (GRCm39)		probably null	Het
Pcdha9	T	A	18: 37,130,995 (GRCm39)	H21Q	probably benign	Het
Pcolce2	A	T	9: 95,520,808 (GRCm39)	I62F	probably damaging	Het
Pfpl	T	A	19: 12,407,053 (GRCm39)	C435S	probably damaging	Het
Pkhd1l1	G	A	15: 44,361,953 (GRCm39)	C542Y	probably damaging	Het
Plekha5	T	C	6: 140,529,597 (GRCm39)	S75P	probably damaging	Het
Pphln1	C	A	15: 93,362,987 (GRCm39)	A202E	probably damaging	Het
Ppp1r1a	A	G	15: 103,440,881 (GRCm39)	L92P	probably damaging	Het
Prokr2	T	C	2: 132,223,414 (GRCm39)	T43A	probably benign	Het
Rai14	T	C	15: 10,592,298 (GRCm39)	N199S	probably benign	Het
Rasgrp2	T	C	19: 6,454,757 (GRCm39)	L199P	probably damaging	Het
Rnf213	A	C	11: 119,373,274 (GRCm39)	M4939L	possibly damaging	Het
Slc23a2	C	T	2: 131,902,603 (GRCm39)	R533Q	probably benign	Het
Slc7a7	T	C	14: 54,610,548 (GRCm39)		probably null	Het
Snrpd2	T	A	7: 18,885,232 (GRCm39)	V31E	probably damaging	Het
Spire1	G	T	18: 67,662,101 (GRCm39)		probably null	Het
Srsf4	T	C	4: 131,627,854 (GRCm39)		probably benign	Het
Tcf20	A	G	15: 82,737,630 (GRCm39)	S1274P	probably damaging	Het
Tcof1	C	A	18: 60,965,975 (GRCm39)	A376S	possibly damaging	Het
Thsd1	T	A	8: 22,733,180 (GRCm39)	Y76N	possibly damaging	Het
Timm44	A	G	8: 4,310,561 (GRCm39)	V397A	probably benign	Het
Tmc6	G	A	11: 117,669,087 (GRCm39)	T89I	possibly damaging	Het
Trbv31	C	A	6: 41,534,639 (GRCm39)	C107F	probably damaging	Het
Trim37	T	A	11: 87,031,429 (GRCm39)		probably null	Het
Ttll5	T	C	12: 86,059,573 (GRCm39)	V1226A	probably benign	Het
Ube3b	T	C	5: 114,550,931 (GRCm39)	V865A	probably benign	Het
Vmn2r86	A	T	10: 130,282,966 (GRCm39)	M550K	probably damaging	Het
Vps54	C	A	11: 21,250,183 (GRCm39)	T373N	probably benign	Het
Wdr64	T	G	1: 175,633,422 (GRCm39)	I891S	probably benign	Het
Zfhx4	C	T	3: 5,463,919 (GRCm39)	S1384L	probably damaging	Het
Zfp703	A	G	8: 27,469,113 (GRCm39)	E259G	possibly damaging	Het
Zfp933	T	C	4: 147,910,969 (GRCm39)	H209R	probably damaging	Het
Zfp980	A	G	4: 145,429,170 (GRCm39)	H633R	probably damaging	Het

Other mutations in Nfe2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:Nfe2	APN	15	103,157,607 (GRCm39)	missense	probably damaging	1.00
nevio	UTSW	15	103,157,232 (GRCm39)	missense	probably damaging	1.00
R0515:Nfe2	UTSW	15	103,157,854 (GRCm39)	missense	probably null	0.00
R0880:Nfe2	UTSW	15	103,157,689 (GRCm39)	missense	probably damaging	1.00
R1613:Nfe2	UTSW	15	103,157,556 (GRCm39)	missense	probably damaging	1.00
R4594:Nfe2	UTSW	15	103,157,232 (GRCm39)	missense	probably damaging	1.00
R5523:Nfe2	UTSW	15	103,157,556 (GRCm39)	missense	probably damaging	1.00
R6263:Nfe2	UTSW	15	103,159,378 (GRCm39)	missense	probably damaging	0.96
R8557:Nfe2	UTSW	15	103,157,025 (GRCm39)	missense	probably benign	0.38
R9125:Nfe2	UTSW	15	103,157,871 (GRCm39)	missense	probably damaging	1.00
R9234:Nfe2	UTSW	15	103,159,636 (GRCm39)	unclassified	probably benign
R9586:Nfe2	UTSW	15	103,157,244 (GRCm39)	missense	probably damaging	1.00
Z1177:Nfe2	UTSW	15	103,156,984 (GRCm39)	missense	possibly damaging	0.60

Predicted Primers

PCR Primer
(F):5'- AGAGTTTGTTGCTAAGGACGAG -3'
(R):5'- CAACACAGGTTGCAGGAATCC -3'

Sequencing Primer
(F):5'- TGTTGCTAAGGACGAGGAGTG -3'
(R):5'- CACAGGTTGCAGGAATCCTTTGTG -3'

Posted On

2015-04-30