Mutagenetix > Incidental Mutation

Incidental Mutation 'R4594:Nfe2'

344289

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

041810-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4594 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103156640-103166809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103157232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 253 (L253S)

Ref Sequence

ENSEMBL: ENSMUSP00000114160 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036004] [ENSMUST00000075192] [ENSMUST00000087351] [ENSMUST00000131364] [ENSMUST00000132438] [ENSMUST00000132836] [ENSMUST00000133600] [ENSMUST00000134554] [ENSMUST00000149111] [ENSMUST00000156927] [ENSMUST00000230489] [ENSMUST00000231141] [ENSMUST00000154510] [ENSMUST00000230171] [ENSMUST00000134193]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000036004

SMART Domains

Protein: ENSMUSP00000042658
Gene: ENSMUSG00000046434

Domain	Start	End	E-Value	Type
RRM	15	87	6.44e-27	SMART
RRM	106	178	6.86e-22	SMART
low complexity region	190	321	N/A	INTRINSIC
low complexity region	331	346	N/A	INTRINSIC
low complexity region	356	370	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000075192
AA Change: L253S

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

SMART Domains

Protein: ENSMUSP00000074684
Gene: ENSMUSG00000058794
AA Change: L253S

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: ENSMUST00000087351

SMART Domains

Protein: ENSMUSP00000084609
Gene: ENSMUSG00000046434

Domain	Start	End	E-Value	Type
RRM	15	87	6.44e-27	SMART
RRM	106	178	6.86e-22	SMART
Pfam:HnRNPA1	257	292	4e-18	PFAM
low complexity region	303	317	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131364

SMART Domains

Protein: ENSMUSP00000116158
Gene: ENSMUSG00000058794

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132438

SMART Domains

Protein: ENSMUSP00000116079
Gene: ENSMUSG00000058794

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

Predicted Effect

probably benign
Transcript: ENSMUST00000132836

SMART Domains

Protein: ENSMUSP00000120256
Gene: ENSMUSG00000058794

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000133600
AA Change: L276S

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

SMART Domains

Protein: ENSMUSP00000121817
Gene: ENSMUSG00000058794
AA Change: L276S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134554
AA Change: L253S

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

SMART Domains

Protein: ENSMUSP00000117474
Gene: ENSMUSG00000058794
AA Change: L253S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149111
AA Change: L253S

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

SMART Domains

Protein: ENSMUSP00000122476
Gene: ENSMUSG00000058794
AA Change: L253S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156927
AA Change: L253S

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

SMART Domains

Protein: ENSMUSP00000114160
Gene: ENSMUSG00000058794
AA Change: L253S

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: ENSMUST00000230489

Predicted Effect

probably benign
Transcript: ENSMUST00000231141

Predicted Effect

probably benign
Transcript: ENSMUST00000154510

SMART Domains

Protein: ENSMUSP00000116678
Gene: ENSMUSG00000058794

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

Predicted Effect

probably benign
Transcript: ENSMUST00000230171

Predicted Effect

probably benign
Transcript: ENSMUST00000134193

SMART Domains

Protein: ENSMUSP00000123064
Gene: ENSMUSG00000058794

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (66/66)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,625,754 (GRCm39)	T64A	probably damaging	Het
4933427I04Rik	A	T	4: 123,754,331 (GRCm39)	T82S	possibly damaging	Het
Adamts15	A	T	9: 30,832,743 (GRCm39)	I264N	probably damaging	Het
Alpk1	G	A	3: 127,477,203 (GRCm39)	A285V	probably damaging	Het
Auh	T	C	13: 53,067,002 (GRCm39)		probably benign	Het
Cacna2d3	A	G	14: 28,704,303 (GRCm39)	F826S	probably benign	Het
Ccdc54	G	T	16: 50,410,380 (GRCm39)	Y295*	probably null	Het
Ctnna3	G	A	10: 64,421,858 (GRCm39)	V551I	probably benign	Het
Diaph3	C	T	14: 87,223,473 (GRCm39)	C347Y	probably damaging	Het
Dnajb5	A	G	4: 42,950,842 (GRCm39)		probably benign	Het
Dscam	A	T	16: 96,519,196 (GRCm39)	I847K	possibly damaging	Het
Fam8a1	T	C	13: 46,824,742 (GRCm39)	F243S	probably damaging	Het
Fat2	T	C	11: 55,175,578 (GRCm39)	I1712V	possibly damaging	Het
Fgfr1	T	C	8: 26,063,852 (GRCm39)	V793A	probably damaging	Het
Got2	T	C	8: 96,598,814 (GRCm39)	E196G	probably benign	Het
Gsk3b	G	A	16: 37,991,063 (GRCm39)	C107Y	possibly damaging	Het
H2-M5	T	C	17: 37,298,697 (GRCm39)	T250A	possibly damaging	Het
Il17f	T	A	1: 20,848,026 (GRCm39)	T151S	probably damaging	Het
Ints12	A	G	3: 132,814,629 (GRCm39)	N279D	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Kynu	T	A	2: 43,569,902 (GRCm39)	S395T	probably benign	Het
Llgl1	C	T	11: 60,597,147 (GRCm39)	T226I	probably benign	Het
Mael	T	A	1: 166,063,056 (GRCm39)	Q132L	probably damaging	Het
Mcpt1	A	T	14: 56,256,109 (GRCm39)	R49S	probably benign	Het
Meioc	G	T	11: 102,564,992 (GRCm39)	G203C	probably damaging	Het
Mfsd4b1	A	G	10: 39,883,313 (GRCm39)	S46P	probably benign	Het
Muc6	G	T	7: 141,218,685 (GRCm39)	T1996N	possibly damaging	Het
Mx2	C	A	16: 97,348,632 (GRCm39)	Y268*	probably null	Het
Myom1	A	G	17: 71,407,069 (GRCm39)	D1064G	possibly damaging	Het
Nek11	A	G	9: 105,270,046 (GRCm39)		probably null	Het
Nup205	T	C	6: 35,173,424 (GRCm39)	I478T	probably benign	Het
Nxpe2	T	C	9: 48,230,782 (GRCm39)	D529G	probably damaging	Het
Oard1	T	C	17: 48,722,267 (GRCm39)	S88P	possibly damaging	Het
Or11g25	A	G	14: 50,723,619 (GRCm39)	R235G	probably benign	Het
Or2p2	C	T	13: 21,256,692 (GRCm39)	V260I	probably benign	Het
Or4n4	G	A	14: 50,519,140 (GRCm39)	T190I	probably benign	Het
Or51k1	T	C	7: 103,661,624 (GRCm39)	D95G	probably benign	Het
Or52e5	T	C	7: 104,718,797 (GRCm39)	V41A	probably benign	Het
Or6k6	G	T	1: 173,944,886 (GRCm39)	T232N	probably damaging	Het
Or8b1	A	C	9: 38,400,057 (GRCm39)	H244P	probably damaging	Het
Osgin1	C	T	8: 120,171,992 (GRCm39)	T262I	possibly damaging	Het
Plcb4	A	T	2: 135,844,519 (GRCm39)	M146L	probably damaging	Het
Prkdc	A	T	16: 15,585,830 (GRCm39)	E2456V	possibly damaging	Het
Ptk2	G	A	15: 73,078,045 (GRCm39)	A1004V	probably damaging	Het
Rab15	G	A	12: 76,847,445 (GRCm39)		probably benign	Het
Rad51ap2	T	C	12: 11,507,881 (GRCm39)	V601A	probably benign	Het
Rasef	T	A	4: 73,698,626 (GRCm39)	I12F	possibly damaging	Het
Rdh14	T	A	12: 10,444,567 (GRCm39)	N139K	probably damaging	Het
Rexo2	A	T	9: 48,391,717 (GRCm39)	V46E	probably damaging	Het
Rskr	T	A	11: 78,182,473 (GRCm39)	V94D	possibly damaging	Het
Slmap	A	T	14: 26,186,772 (GRCm39)	L68H	probably damaging	Het
Speer3	C	G	5: 13,846,394 (GRCm39)	A238G	possibly damaging	Het
Tmem132e	T	C	11: 82,325,894 (GRCm39)	I206T	possibly damaging	Het
Trappc8	A	T	18: 20,970,005 (GRCm39)	V995E	probably benign	Het
Vmn2r12	A	C	5: 109,234,301 (GRCm39)	I637S	probably damaging	Het
Vmn2r124	T	C	17: 18,294,231 (GRCm39)	F773L	probably damaging	Het
Vmn2r99	A	T	17: 19,613,924 (GRCm39)	D548V	probably damaging	Het
Wdr81	T	C	11: 75,336,620 (GRCm39)	N1590D	probably benign	Het
Zbtb6	A	T	2: 37,319,054 (GRCm39)	N291K	possibly damaging	Het
Zfp119a	G	A	17: 56,173,325 (GRCm39)	R173C	probably benign	Het
Zmynd15	T	C	11: 70,355,008 (GRCm39)	L335P	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
R4049:Nfe2	UTSW	15	103,159,364 (GRCm39)	missense	possibly damaging	0.93
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'- GTTGCCAGATTCATCCCGAAG -3'
(R):5'- GACATGTACCCAGTGGAGTATCC -3'

Sequencing Primer
(F):5'- TCCCGAAGATGCTGGAAAATATC -3'
(R):5'- AATTCTTTGGCCCATCCCAACTATAC -3'

Posted On

2015-09-25