Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00979:Nfe2'

29106

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nfe2

Ensembl Gene

ENSMUSG00000058794

Gene Name

nuclear factor, erythroid derived 2

Synonyms

p45nf-e2, NF-E2, p45NFE2, p45

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00979

Quality Score

Status

Chromosome

Chromosomal Location

103156640-103166809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103157607 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 128 (D128G)

Ref Sequence

ENSEMBL: ENSMUSP00000120256 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000075192
AA Change: D128G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074684
Gene: ENSMUSG00000058794
AA Change: D128G

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

possibly damaging
Transcript: ENSMUST00000131364
AA Change: D128G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116158
Gene: ENSMUSG00000058794
AA Change: D128G

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 damaging
Transcript: ENSMUST00000132836
AA Change: D128G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120256
Gene: ENSMUSG00000058794
AA Change: D128G

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000133600
AA Change: D151G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121817
Gene: ENSMUSG00000058794
AA Change: D151G

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: ENSMUST00000134554
AA Change: D128G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000117474
Gene: ENSMUSG00000058794
AA Change: D128G

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: D128G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122476
Gene: ENSMUSG00000058794
AA Change: D128G

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: ENSMUST00000134193
AA Change: D128G

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000123064
Gene: ENSMUSG00000058794
AA Change: D128G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156927
AA Change: D128G

PolyPhen 2 Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114160
Gene: ENSMUSG00000058794
AA Change: D128G

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

Coding Region Coverage

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427I04Rik	A	T	4: 123,754,338 (GRCm39)	K84M	probably damaging	Het
A4gnt	T	A	9: 99,502,489 (GRCm39)	Y216*	probably null	Het
Abcb1b	A	G	5: 8,875,293 (GRCm39)		probably benign	Het
Ankrd50	G	A	3: 38,506,563 (GRCm39)		probably benign	Het
Catsperb	A	G	12: 101,381,584 (GRCm39)	T89A	probably benign	Het
Ccdc15	C	T	9: 37,227,786 (GRCm39)	S236N	probably benign	Het
Cd34	A	C	1: 194,631,816 (GRCm39)	T151P	possibly damaging	Het
Col28a1	A	T	6: 8,014,810 (GRCm39)	V865E	probably damaging	Het
Csf2rb	T	A	15: 78,232,304 (GRCm39)	V537E	probably damaging	Het
Cux2	A	G	5: 122,011,777 (GRCm39)	F553L	probably damaging	Het
Dolk	A	T	2: 30,174,743 (GRCm39)	L434Q	probably damaging	Het
Dsg2	C	A	18: 20,715,824 (GRCm39)	D255E	probably damaging	Het
Endov	T	C	11: 119,391,444 (GRCm39)	V144A	probably damaging	Het
Grik2	T	C	10: 49,232,034 (GRCm39)	N499D	probably damaging	Het
Hephl1	G	T	9: 14,978,341 (GRCm39)	T855K	probably benign	Het
Hif1a	A	G	12: 73,988,784 (GRCm39)	D557G	probably damaging	Het
Idh1	G	A	1: 65,210,308 (GRCm39)	T75I	probably damaging	Het
Ighv1-37	A	G	12: 114,860,070 (GRCm39)	S47P	probably benign	Het
Irx4	A	G	13: 73,416,341 (GRCm39)		probably benign	Het
Itpr1	C	T	6: 108,448,081 (GRCm39)	A1871V	probably damaging	Het
Klkb1	A	G	8: 45,747,105 (GRCm39)		probably benign	Het
Lrrc8e	T	C	8: 4,285,080 (GRCm39)	L435P	probably damaging	Het
Megf11	T	A	9: 64,416,009 (GRCm39)	Y73N	probably damaging	Het
Or13a22	A	G	7: 140,072,614 (GRCm39)	E21G	probably benign	Het
Or4k51	T	A	2: 111,584,771 (GRCm39)	M59K	probably damaging	Het
Pak6	C	A	2: 118,526,963 (GRCm39)	L653I	probably damaging	Het
Pde4dip	T	A	3: 97,655,074 (GRCm39)		probably benign	Het
Pds5a	A	G	5: 65,789,066 (GRCm39)	V831A	probably benign	Het
Prc1	G	T	7: 79,957,444 (GRCm39)		probably null	Het
Ptprs	C	T	17: 56,765,243 (GRCm39)	G14S	probably damaging	Het
Pygb	A	G	2: 150,661,833 (GRCm39)	K520E	probably benign	Het
Rimbp2	A	G	5: 128,883,505 (GRCm39)	S92P	probably benign	Het
Samd4b	A	T	7: 28,113,638 (GRCm39)	L109Q	probably damaging	Het
Saxo4	T	C	19: 10,451,863 (GRCm39)	*428W	probably null	Het
Scn8a	A	T	15: 100,853,287 (GRCm39)		probably benign	Het
Sdc3	A	G	4: 130,545,991 (GRCm39)	I23V	unknown	Het
Sec61a2	A	G	2: 5,876,831 (GRCm39)	Y350H	possibly damaging	Het
Slc4a3	A	T	1: 75,530,891 (GRCm39)	Q759L	probably damaging	Het
Speg	C	T	1: 75,387,378 (GRCm39)	P1378L	probably damaging	Het
Spta1	T	G	1: 174,035,956 (GRCm39)	Y1087*	probably null	Het
Tenm4	A	G	7: 96,378,598 (GRCm39)	E401G	probably damaging	Het
Tom1	C	A	8: 75,781,331 (GRCm39)		probably benign	Het
Ttc3	T	A	16: 94,257,577 (GRCm39)	V1273D	probably damaging	Het
Vmn2r106	G	T	17: 20,497,837 (GRCm39)	D467E	possibly damaging	Het
Washc4	A	T	10: 83,386,747 (GRCm39)	T124S	probably benign	Het
Zfp790	A	G	7: 29,529,034 (GRCm39)	E573G	probably benign	Het

Other mutations in Nfe2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-04-17