Mutagenetix > Incidental Mutation

Incidental Mutation 'R9451:Nfe2l1'

714273

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9451 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96817414-96829968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96827627 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 27 (D27E)

Ref Sequence

ENSEMBL: ENSMUSP00000103286 (fasta)

Gene Model

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

AlphaFold

Q61985

Predicted Effect

probably damaging
Transcript: ENSMUST00000081775
AA Change: D27E

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

SMART Domains

Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615
AA Change: D27E

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

probably damaging
Transcript: ENSMUST00000107657
AA Change: D27E

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

SMART Domains

Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615
AA Change: D27E

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

probably damaging
Transcript: ENSMUST00000107658
AA Change: D27E

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

SMART Domains

Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615
AA Change: D27E

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

probably damaging
Transcript: ENSMUST00000107659
AA Change: D27E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103286
Gene: ENSMUSG00000038615
AA Change: D27E

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

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

SMART Domains

Protein: ENSMUSP00000127804
Gene: ENSMUSG00000038615

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

probably damaging
Transcript: ENSMUST00000167149
AA Change: D27E

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

SMART Domains

Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615
AA Change: D27E

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

probably benign
Transcript: ENSMUST00000169828

SMART Domains

Protein: ENSMUSP00000131585
Gene: ENSMUSG00000038615

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (73/73)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	G	17: 23,717,213	Y19H	unknown	Het
Aldh8a1	T	A	10: 21,389,133	S220T	probably benign	Het
Ankrd66	A	G	17: 43,534,920	V192A	probably benign	Het
Atp1a2	A	G	1: 172,275,927	Y1009H	probably benign	Het
BC005561	C	A	5: 104,520,778	S1055R	probably benign	Het
Bptf	A	C	11: 107,044,585	M142R	probably damaging	Het
Brwd1	C	T	16: 96,044,503	R740Q	probably damaging	Het
C3	A	G	17: 57,224,169	M339T	probably benign	Het
Catsperg1	A	G	7: 29,198,347		probably null	Het
Cep295nl	T	A	11: 118,333,620	K133*	probably null	Het
Copg2	A	T	6: 30,816,851		probably benign	Het
Coro7	A	T	16: 4,670,538	D89E	probably damaging	Het
Cyp2t4	G	A	7: 27,155,292	V66M	possibly damaging	Het
Ddx54	G	T	5: 120,627,144	R826L	probably damaging	Het
Dlg4	G	T	11: 70,031,239	K162N	probably damaging	Het
Dna2	T	A	10: 62,954,293	L185H	probably benign	Het
Dock9	C	T	14: 121,550,189		probably benign	Het
Efcab8	G	C	2: 153,804,941	V397L	unknown	Het
Etl4	A	G	2: 20,809,115	I1322V	probably benign	Het
Exd1	T	C	2: 119,524,583	K284E	possibly damaging	Het
Flnc	A	G	6: 29,445,463	T786A	probably damaging	Het
Gm21671	T	A	5: 25,951,571	K137*	probably null	Het
Gm29106	A	C	1: 118,199,914	E445D	possibly damaging	Het
Gm5592	T	C	7: 41,286,452	L126P	probably damaging	Het
Gtf3c2	T	G	5: 31,168,429	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,327,841	R669S	probably benign	Het
Hivep1	A	G	13: 42,183,776	T2444A	probably benign	Het
Hspg2	A	G	4: 137,511,069	E289G	probably damaging	Het
Htatip2	C	A	7: 49,759,239	T9K	unknown	Het
Ifngr1	T	C	10: 19,607,293	V265A	possibly damaging	Het
Ift140	A	G	17: 25,033,951	N359D	probably benign	Het
Mat1a	A	G	14: 41,114,846	R178G	probably damaging	Het
Mknk2	C	T	10: 80,669,662	R154H	probably benign	Het
Myh14	C	T	7: 44,624,319		probably null	Het
Myof	A	G	19: 37,977,648		probably null	Het
Olfr1234	A	T	2: 89,362,899	C177S	probably damaging	Het
Olfr1301	T	C	2: 111,754,873	V208A	probably benign	Het
Olfr1378	A	G	11: 50,969,123	Y35C		Het
Olfr284	A	G	15: 98,340,263	V242A	possibly damaging	Het
Olfr485	A	G	7: 108,159,261	V204A	probably benign	Het
Plec	C	A	15: 76,183,787	Q1139H	unknown	Het
Plxna2	T	A	1: 194,644,384	S209T	probably benign	Het
Plxnd1	T	C	6: 115,963,316	E1369G	possibly damaging	Het
Psd3	T	C	8: 67,910,835	I3V	unknown	Het
Pwp1	T	A	10: 85,878,564	F195L	probably damaging	Het
Rab3ip	C	T	10: 116,939,449	M1I	probably null	Het
Rad54l2	T	C	9: 106,708,289	K759R	probably benign	Het
Rims2	G	T	15: 39,437,328	V344L	probably damaging	Het
Robo1	G	A	16: 73,006,830	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,440,825		probably benign	Het
Serhl	A	C	15: 83,102,966	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,255,029		probably null	Het
Slc27a1	T	A	8: 71,580,164	Y248*	probably null	Het
Slitrk3	T	A	3: 73,051,283	E52V	possibly damaging	Het
Snx2	T	C	18: 53,210,343	V271A	probably benign	Het
Snx9	C	A	17: 5,899,493	P156Q	probably damaging	Het
Spag6	C	A	2: 18,710,558	Y71*	probably null	Het
Speg	A	G	1: 75,417,733	D1724G	probably damaging	Het
Svs1	A	G	6: 48,988,840	Y594C	probably damaging	Het
Syt7	A	G	19: 10,444,168	N572S	probably damaging	Het
Ticam2	A	G	18: 46,560,699	I107T	probably damaging	Het
Tm7sf3	C	T	6: 146,623,681	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,570,019	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663	T519A	possibly damaging	Het
Trim43b	G	A	9: 89,091,555	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,944,773	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,072	D97G	probably benign	Het
Uncx	A	G	5: 139,546,720	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,733,393	T552A	probably damaging	Het
Vmn2r51	A	T	7: 10,099,889	H407Q	probably damaging	Het
Wdfy4	C	T	14: 33,133,561	E699K		Het
Wdr95	A	G	5: 149,580,700	T324A	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
R3891:Nfe2l1	UTSW	11	96819997	missense	possibly damaging	0.93
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
R8762:Nfe2l1	UTSW	11	96820480	missense	probably damaging	1.00
R8902:Nfe2l1	UTSW	11	96817794	missense	unknown
R9074:Nfe2l1	UTSW	11	96819747	missense	possibly damaging	0.51
R9084:Nfe2l1	UTSW	11	96820131	missense	probably damaging	0.99
R9251:Nfe2l1	UTSW	11	96819595	missense	probably damaging	1.00
R9472:Nfe2l1	UTSW	11	96819333	missense	probably damaging	0.99
R9682:Nfe2l1	UTSW	11	96820118	missense	probably benign	0.11

Predicted Primers

PCR Primer
(F):5'- AGCCAAGCATTGACCTCAG -3'
(R):5'- AGCTCAGCCCTTGTGTTGTG -3'

Sequencing Primer
(F):5'- TGGTAGGCACCTGGAACCTATC -3'
(R):5'- ACTGAGGAGGGTAGCCTGC -3'

Posted On

2022-06-15