Mutagenetix > Incidental Mutations

Incidental Mutation 'R3891:Nfe2l1'

310407

Institutional Source

Beutler Lab

Gene Symbol

Nfe2l1

Ensembl Gene

ENSMUSG00000038615

Gene Name

nuclear factor, erythroid derived 2,-like 1

Synonyms

LCR-F1, TCF11, NRF1, TCF-11, Lcrf1

MMRRC Submission

040803-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3891 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96817414-96829968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96819997 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 181 (S181P)

Ref Sequence

ENSEMBL: ENSMUSP00000131585 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081775] [ENSMUST00000107657] [ENSMUST00000107658] [ENSMUST00000107659] [ENSMUST00000126949] [ENSMUST00000142065] [ENSMUST00000167110] [ENSMUST00000167149] [ENSMUST00000169828]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081775
AA Change: S469P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615
AA Change: S469P

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	172	206	1e-9	PDB
low complexity region	402	415	N/A	INTRINSIC
low complexity region	445	492	N/A	INTRINSIC
BRLZ	621	685	9.8e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107657
AA Change: S469P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615
AA Change: S469P

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	172	206	1e-9	PDB
low complexity region	402	415	N/A	INTRINSIC
low complexity region	445	492	N/A	INTRINSIC
BRLZ	621	685	9.8e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107658
AA Change: S469P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615
AA Change: S469P

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	172	206	1e-9	PDB
low complexity region	402	415	N/A	INTRINSIC
low complexity region	445	492	N/A	INTRINSIC
BRLZ	621	685	9.8e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107659
AA Change: S469P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103286
Gene: ENSMUSG00000038615
AA Change: S469P

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	172	206	1e-9	PDB
low complexity region	402	415	N/A	INTRINSIC
low complexity region	445	492	N/A	INTRINSIC
BRLZ	621	697	1.93e-7	SMART
transmembrane domain	719	741	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126949

SMART Domains

Protein: ENSMUSP00000120512
Gene: ENSMUSG00000038615

Domain	Start	End	E-Value	Type
SCOP:d1e5xa_	22	65	4e-3	SMART
low complexity region	114	127	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140138

Predicted Effect

probably benign
Transcript: ENSMUST00000142065

SMART Domains

Protein: ENSMUSP00000121423
Gene: ENSMUSG00000038615

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	14	48	1e-10	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000167110
AA Change: S311P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000127804
Gene: ENSMUSG00000038615
AA Change: S311P

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	14	48	1e-9	PDB
low complexity region	244	257	N/A	INTRINSIC
low complexity region	287	334	N/A	INTRINSIC
BRLZ	463	527	9.8e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167149
AA Change: S469P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615
AA Change: S469P

Domain	Start	End	E-Value	Type
PDB:3WN7\|M	172	206	1e-9	PDB
low complexity region	402	415	N/A	INTRINSIC
low complexity region	445	492	N/A	INTRINSIC
BRLZ	621	685	9.8e-9	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169828
AA Change: S181P

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000131585
Gene: ENSMUSG00000038615
AA Change: S181P

Domain	Start	End	E-Value	Type
low complexity region	114	127	N/A	INTRINSIC
low complexity region	157	204	N/A	INTRINSIC
BRLZ	333	397	9.8e-9	SMART

Meta Mutation Damage Score

0.1337

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases from the use of NRF1 for this gene, NFE2L1, and for "nuclear respiratory factor 1" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations fail to form a primitive streak, lack mesoderm, show a non-cell autonomous defect in definitive erythropoiesis, and die around embryonic day 7.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	G	4: 128,762,054	T72A	probably damaging	Het
Ascc3	T	A	10: 50,842,193	I1994N	probably damaging	Het
C1qb	A	T	4: 136,880,416	V212E	probably damaging	Het
Cfap54	T	A	10: 93,038,846	I563F	possibly damaging	Het
Clip2	T	C	5: 134,522,993	K92E	probably damaging	Het
Clrn3	T	C	7: 135,518,465	T131A	possibly damaging	Het
Col9a1	T	C	1: 24,185,436		probably null	Het
Def8	T	C	8: 123,458,344		probably benign	Het
Diaph1	C	A	18: 37,900,638		probably benign	Het
Dmrta1	A	T	4: 89,691,594	I264F	possibly damaging	Het
Dscaml1	A	T	9: 45,717,484	D1112V	possibly damaging	Het
Ehbp1l1	A	G	19: 5,718,312	S988P	possibly damaging	Het
Gabrr2	A	G	4: 33,081,348	Y4C	probably damaging	Het
Gm10088	T	C	16: 19,028,251		noncoding transcript	Het
Gm4907	A	G	X: 23,906,941	Y227C	probably damaging	Het
Gm5616	A	G	9: 48,450,509		noncoding transcript	Het
H2-T24	T	A	17: 36,015,438	I190F	possibly damaging	Het
Hmcn1	A	T	1: 150,635,195	D3592E	probably damaging	Het
Il1rap	A	G	16: 26,676,856	Y71C	probably damaging	Het
Krt1	T	A	15: 101,850,412	S106C	unknown	Het
Lsamp	T	C	16: 39,984,692	V11A	probably benign	Het
Mob1b	T	A	5: 88,753,202	I156K	probably damaging	Het
Naip2	T	A	13: 100,161,098	E810V	probably damaging	Het
Nos1ap	T	C	1: 170,349,456	Y126C	probably damaging	Het
Nuak2	G	T	1: 132,331,485	A342S	possibly damaging	Het
Olfr170	A	G	16: 19,606,455	I71T	probably damaging	Het
Olfr31	T	A	14: 14,328,114	M1K	probably null	Het
Olfr718-ps1	G	T	5: 143,137,397	S290R	probably benign	Het
Pcdhb16	A	T	18: 37,479,369	I461F	probably benign	Het
Pcdhga10	A	C	18: 37,749,481	H765P	probably benign	Het
Pex2	C	T	3: 5,560,948	C267Y	probably damaging	Het
Pgghg	T	C	7: 140,945,703	I473T	probably damaging	Het
Polr2e	G	T	10: 80,037,379	P80T	probably benign	Het
Pum1	T	C	4: 130,764,082	L774P	probably damaging	Het
Rasef	A	G	4: 73,780,397	V9A	probably benign	Het
Rpl13	A	G	8: 123,105,168	E201G	probably damaging	Het
Skint2	A	G	4: 112,624,186	E82G	probably damaging	Het
Skor2	A	G	18: 76,858,655	D24G	unknown	Het
Slc19a3	A	T	1: 83,022,957	F113Y	probably damaging	Het
Slc29a3	T	A	10: 60,716,261	K335*	probably null	Het
Slc30a6	T	A	17: 74,419,546	D282E	probably benign	Het
Slc9a7	A	G	X: 20,186,113	F247S	probably damaging	Het
Slx4	A	T	16: 3,979,909	I1537N	probably damaging	Het
Specc1	C	T	11: 62,151,913	T872M	probably benign	Het
Stard10	G	A	7: 101,343,930	R231Q	possibly damaging	Het
Syce1	C	A	7: 140,779,896	L83F	probably damaging	Het
Vwa1	T	C	4: 155,773,194	E49G	probably damaging	Het
Zc3h12a	A	G	4: 125,126,885	F55S	probably damaging	Het
Zmym4	A	G	4: 126,904,476	I786T	probably benign	Het

Other mutations in Nfe2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Nfe2l1	APN	11	96817716	missense	probably benign	0.23
IGL02676:Nfe2l1	APN	11	96827665	missense	probably damaging	0.97
IGL02868:Nfe2l1	APN	11	96820140	missense	probably damaging	1.00
IGL03278:Nfe2l1	APN	11	96822192	missense	probably benign	0.04
R0218:Nfe2l1	UTSW	11	96827613	missense	probably damaging	1.00
R0453:Nfe2l1	UTSW	11	96827368	missense	probably damaging	0.99
R0637:Nfe2l1	UTSW	11	96827688	missense	probably damaging	1.00
R4108:Nfe2l1	UTSW	11	96819394	critical splice donor site	probably null
R4234:Nfe2l1	UTSW	11	96819909	missense	probably damaging	1.00
R4720:Nfe2l1	UTSW	11	96827689	missense	probably damaging	1.00
R5102:Nfe2l1	UTSW	11	96822108	missense	probably damaging	0.99
R5319:Nfe2l1	UTSW	11	96819379	missense	probably damaging	0.98
R5929:Nfe2l1	UTSW	11	96827359	missense	probably damaging	0.99
R6263:Nfe2l1	UTSW	11	96817744	missense	probably benign	0.23
R6375:Nfe2l1	UTSW	11	96820051	missense	probably damaging	1.00
R6450:Nfe2l1	UTSW	11	96827335	missense	possibly damaging	0.80
R6705:Nfe2l1	UTSW	11	96827625	missense	probably damaging	1.00
R6907:Nfe2l1	UTSW	11	96819810	missense	probably damaging	1.00
R7161:Nfe2l1	UTSW	11	96817720	missense	probably benign	0.23
R7411:Nfe2l1	UTSW	11	96822183	missense	probably benign	0.37
R7420:Nfe2l1	UTSW	11	96819913	missense	probably benign	0.02
R7495:Nfe2l1	UTSW	11	96819796	missense	probably damaging	0.98
R7625:Nfe2l1	UTSW	11	96819445	missense	probably damaging	1.00
R8134:Nfe2l1	UTSW	11	96819759	missense	possibly damaging	0.83
R8252:Nfe2l1	UTSW	11	96819232	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTATGATTGTGGCCCACATGC -3'
(R):5'- TGTTAGACGAAGCTATGCTGG -3'

Sequencing Primer
(F):5'- ATTGTGGCCCACATGCTCTAAGTAG -3'
(R):5'- GCTATGCTGGATGAGATCAGC -3'

Posted On

2015-04-17