Mutagenetix > Incidental Mutation

Incidental Mutation 'R6263:Nfe2'

506848

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

044437-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6263 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103156640-103166809 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103159378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 31 (I31T)

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

probably benign
Transcript: ENSMUST00000075192
AA Change: I31T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000074684
Gene: ENSMUSG00000058794
AA Change: I31T

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: ENSMUST00000131364
AA Change: I31T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116158
Gene: ENSMUSG00000058794
AA Change: I31T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132438
AA Change: I31T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116079
Gene: ENSMUSG00000058794
AA Change: I31T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132836
AA Change: I31T

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120256
Gene: ENSMUSG00000058794
AA Change: I31T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133600
AA Change: I54T

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121817
Gene: ENSMUSG00000058794
AA Change: I54T

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: I31T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123064
Gene: ENSMUSG00000058794
AA Change: I31T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134554
AA Change: I31T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117474
Gene: ENSMUSG00000058794
AA Change: I31T

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: ENSMUST00000149111
AA Change: I31T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000122476
Gene: ENSMUSG00000058794
AA Change: I31T

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: ENSMUST00000154510
AA Change: I31T

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116678
Gene: ENSMUSG00000058794
AA Change: I31T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156927
AA Change: I31T

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114160
Gene: ENSMUSG00000058794
AA Change: I31T

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

0.1402

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.7%

Validation Efficiency

97% (66/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,995,641 (GRCm39)	I5642V	probably benign	Het
Atp5f1a	A	G	18: 77,866,930 (GRCm39)		probably null	Het
Bltp1	T	A	3: 36,985,260 (GRCm39)	N863K	probably benign	Het
Bsn	A	T	9: 107,990,453 (GRCm39)	F1766L	probably damaging	Het
Ccdc141	T	C	2: 76,938,807 (GRCm39)	Q266R	probably damaging	Het
Cdh10	T	A	15: 18,964,154 (GRCm39)	D105E	possibly damaging	Het
Clca3a1	T	A	3: 144,455,539 (GRCm39)	D418V	probably damaging	Het
Cnnm2	C	A	19: 46,845,344 (GRCm39)	T612K	probably benign	Het
Col3a1	T	C	1: 45,360,735 (GRCm39)	V55A	unknown	Het
Cpd	A	C	11: 76,737,097 (GRCm39)	D232E	probably benign	Het
Csde1	A	G	3: 102,947,333 (GRCm39)	H95R	probably benign	Het
Ctcfl	T	A	2: 172,937,130 (GRCm39)	H596L	probably benign	Het
Cwc22	T	C	2: 77,726,515 (GRCm39)	R855G	possibly damaging	Het
Cwc25	A	G	11: 97,644,053 (GRCm39)	Y227H	probably damaging	Het
Cyp2c38	G	A	19: 39,380,659 (GRCm39)	P409S	probably damaging	Het
Ddx5	A	G	11: 106,679,139 (GRCm39)	S2P	possibly damaging	Het
Dnah2	C	A	11: 69,348,238 (GRCm39)	G2570W	probably damaging	Het
Dnajc10	T	A	2: 80,174,292 (GRCm39)	V528E	probably damaging	Het
Efcab3	G	A	11: 104,810,312 (GRCm39)	D3150N	unknown	Het
Fmo1	A	G	1: 162,677,629 (GRCm39)		probably null	Het
Gpatch1	C	A	7: 35,002,848 (GRCm39)	D221Y	probably damaging	Het
Ino80	T	C	2: 119,213,895 (GRCm39)	Y1225C	probably damaging	Het
Itga7	T	A	10: 128,779,955 (GRCm39)	D501E	probably benign	Het
Lgr4	T	C	2: 109,842,243 (GRCm39)	S743P	possibly damaging	Het
Lilra5	A	T	7: 4,241,360 (GRCm39)	Y99F	probably damaging	Het
Lmna	A	G	3: 88,410,265 (GRCm39)	V49A	probably damaging	Het
Lrrc72	G	A	12: 36,258,603 (GRCm39)	R267*	probably null	Het
Mapkbp1	T	C	2: 119,853,772 (GRCm39)	S1199P	probably damaging	Het
Mmp25	G	A	17: 23,849,768 (GRCm39)	A541V	possibly damaging	Het
Myh10	A	T	11: 68,701,058 (GRCm39)	N1756Y	probably damaging	Het
Nfe2l1	A	T	11: 96,708,570 (GRCm39)	F732I	probably benign	Het
Or4a39	C	G	2: 89,237,074 (GRCm39)	M116I	possibly damaging	Het
Or4c12b	T	A	2: 89,647,104 (GRCm39)	C145S	probably damaging	Het
Or52e19b	C	A	7: 103,032,403 (GRCm39)	V269F	possibly damaging	Het
Pax6	T	C	2: 105,523,199 (GRCm39)		probably null	Het
Phb1	A	G	11: 95,568,941 (GRCm39)	E192G	probably damaging	Het
Plekhn1	A	T	4: 156,309,650 (GRCm39)		probably null	Het
Plxnb2	A	T	15: 89,046,189 (GRCm39)	V942E	probably damaging	Het
Potegl	T	A	2: 23,156,745 (GRCm39)		probably benign	Het
Rsrc2	G	A	5: 123,877,751 (GRCm39)		probably benign	Het
Septin8	G	A	11: 53,439,210 (GRCm39)	C460Y	probably benign	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc16a7	A	G	10: 125,130,508 (GRCm39)	I59T	probably benign	Het
Slc35d1	A	T	4: 103,065,365 (GRCm39)	I172N	possibly damaging	Het
Smg5	A	T	3: 88,249,208 (GRCm39)	N40Y	possibly damaging	Het
Smurf1	A	G	5: 144,818,541 (GRCm39)	V633A	probably damaging	Het
Snx9	T	C	17: 5,937,324 (GRCm39)	V22A	probably damaging	Het
Sox6	A	T	7: 115,076,295 (GRCm39)	M741K	probably damaging	Het
Spata31d1d	T	C	13: 59,873,797 (GRCm39)	Q1246R	probably benign	Het
Sval1	A	G	6: 41,928,660 (GRCm39)	E24G	probably damaging	Het
Tas2r124	A	G	6: 132,731,867 (GRCm39)	I59V	probably benign	Het
Tmem151b	T	A	17: 45,857,992 (GRCm39)	T85S	probably benign	Het
Tpr	T	A	1: 150,317,996 (GRCm39)		probably null	Het
Trpm6	A	C	19: 18,831,472 (GRCm39)	T1446P	possibly damaging	Het
Tsc22d4	A	T	5: 137,766,441 (GRCm39)	K502N	possibly damaging	Het
Tssk3	C	T	4: 129,383,051 (GRCm39)	S207N	probably benign	Het
Ttbk1	G	T	17: 46,778,188 (GRCm39)	P618Q	probably damaging	Het
Ttll6	A	T	11: 96,047,371 (GRCm39)	M657L	probably benign	Het
Ubash3a	T	A	17: 31,434,069 (GRCm39)	I138N	probably benign	Het
Ush2a	A	G	1: 188,090,839 (GRCm39)	Y490C	probably damaging	Het
Vmn1r82	G	T	7: 12,039,461 (GRCm39)	V127F	probably damaging	Het
Vmn2r32	A	T	7: 7,479,691 (GRCm39)	S161T	possibly damaging	Het
Wdr49	T	C	3: 75,388,824 (GRCm39)	I58M	possibly damaging	Het
Wiz	A	T	17: 32,579,417 (GRCm39)		probably null	Het
Wrap53	A	T	11: 69,453,619 (GRCm39)	Y324*	probably null	Het
Zfp747	A	C	7: 126,975,138 (GRCm39)		probably benign	Het
Zfp827	A	G	8: 79,905,702 (GRCm39)	Y33C	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
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
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'- TTGTTGCTAAGGACGAGGAG -3'
(R):5'- TGACTTGGTGGGAGCAACTC -3'

Sequencing Primer
(F):5'- TTGCTAAGGACGAGGAGTGGTAATG -3'
(R):5'- CTTGGTGGGAGCAACTCTAATACC -3'

Posted On

2018-03-15