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

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

96708240-96720794 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96718453 bp (GRCm39)

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
Aldh8a1	T	A	10: 21,265,032 (GRCm39)	S220T	probably benign	Het
Ankrd66	A	G	17: 43,845,811 (GRCm39)	V192A	probably benign	Het
Aoc1l3	A	G	6: 48,965,774 (GRCm39)	Y594C	probably damaging	Het
Atp1a2	A	G	1: 172,103,494 (GRCm39)	Y1009H	probably benign	Het
Bptf	A	C	11: 106,935,411 (GRCm39)	M142R	probably damaging	Het
Brwd1	C	T	16: 95,845,703 (GRCm39)	R740Q	probably damaging	Het
C3	A	G	17: 57,531,169 (GRCm39)	M339T	probably benign	Het
Catsperg1	A	G	7: 28,897,772 (GRCm39)		probably null	Het
Cep295nl	T	A	11: 118,224,446 (GRCm39)	K133*	probably null	Het
Copg2	A	T	6: 30,793,786 (GRCm39)		probably benign	Het
Coro7	A	T	16: 4,488,402 (GRCm39)	D89E	probably damaging	Het
Cyp2t4	G	A	7: 26,854,717 (GRCm39)	V66M	possibly damaging	Het
Ddx54	G	T	5: 120,765,209 (GRCm39)	R826L	probably damaging	Het
Dlg4	G	T	11: 69,922,065 (GRCm39)	K162N	probably damaging	Het
Dna2	T	A	10: 62,790,072 (GRCm39)	L185H	probably benign	Het
Dock9	C	T	14: 121,787,601 (GRCm39)		probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Etl4	A	G	2: 20,813,926 (GRCm39)	I1322V	probably benign	Het
Exd1	T	C	2: 119,355,064 (GRCm39)	K284E	possibly damaging	Het
Flnc	A	G	6: 29,445,462 (GRCm39)	T786A	probably damaging	Het
Gm29106	A	C	1: 118,127,644 (GRCm39)	E445D	possibly damaging	Het
Gm5592	T	C	7: 40,935,876 (GRCm39)	L126P	probably damaging	Het
Grep1	A	G	17: 23,936,187 (GRCm39)	Y19H	unknown	Het
Gtf3c2	T	G	5: 31,325,773 (GRCm39)	T389P	probably damaging	Het
Hhipl1	C	A	12: 108,294,100 (GRCm39)	R669S	probably benign	Het
Hivep1	A	G	13: 42,337,252 (GRCm39)	T2444A	probably benign	Het
Hspg2	A	G	4: 137,238,380 (GRCm39)	E289G	probably damaging	Het
Htatip2	C	A	7: 49,408,987 (GRCm39)	T9K	unknown	Het
Ifngr1	T	C	10: 19,483,041 (GRCm39)	V265A	possibly damaging	Het
Ift140	A	G	17: 25,252,925 (GRCm39)	N359D	probably benign	Het
Mat1a	A	G	14: 40,836,803 (GRCm39)	R178G	probably damaging	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Myh14	C	T	7: 44,273,743 (GRCm39)		probably null	Het
Myof	A	G	19: 37,966,096 (GRCm39)		probably null	Het
Or1ad6	A	G	11: 50,859,950 (GRCm39)	Y35C		Het
Or4a15	A	T	2: 89,193,243 (GRCm39)	C177S	probably damaging	Het
Or4k51	T	C	2: 111,585,218 (GRCm39)	V208A	probably benign	Het
Or5p61	A	G	7: 107,758,468 (GRCm39)	V204A	probably benign	Het
Or8s5	A	G	15: 98,238,144 (GRCm39)	V242A	possibly damaging	Het
Plec	C	A	15: 76,067,987 (GRCm39)	Q1139H	unknown	Het
Plxna2	T	A	1: 194,326,692 (GRCm39)	S209T	probably benign	Het
Plxnd1	T	C	6: 115,940,277 (GRCm39)	E1369G	possibly damaging	Het
Psd3	T	C	8: 68,363,487 (GRCm39)	I3V	unknown	Het
Pwp1	T	A	10: 85,714,428 (GRCm39)	F195L	probably damaging	Het
Rab3ip	C	T	10: 116,775,354 (GRCm39)	M1I	probably null	Het
Rad54l2	T	C	9: 106,585,488 (GRCm39)	K759R	probably benign	Het
Rims2	G	T	15: 39,300,724 (GRCm39)	V344L	probably damaging	Het
Robo1	G	A	16: 72,803,718 (GRCm39)	R1088Q	probably benign	Het
Rtf2	A	G	2: 172,282,745 (GRCm39)		probably benign	Het
Serhl	A	C	15: 82,987,167 (GRCm39)	K131N	possibly damaging	Het
Sidt1	T	A	16: 44,075,392 (GRCm39)		probably null	Het
Slc27a1	T	A	8: 72,032,808 (GRCm39)	Y248*	probably null	Het
Slitrk3	T	A	3: 72,958,616 (GRCm39)	E52V	possibly damaging	Het
Snx2	T	C	18: 53,343,415 (GRCm39)	V271A	probably benign	Het
Snx9	C	A	17: 5,949,768 (GRCm39)	P156Q	probably damaging	Het
Spag6	C	A	2: 18,715,369 (GRCm39)	Y71*	probably null	Het
Speer4a3	T	A	5: 26,156,569 (GRCm39)	K137*	probably null	Het
Speg	A	G	1: 75,394,377 (GRCm39)	D1724G	probably damaging	Het
Syt7	A	G	19: 10,421,532 (GRCm39)	N572S	probably damaging	Het
Thoc2l	C	A	5: 104,668,644 (GRCm39)	S1055R	probably benign	Het
Ticam2	A	G	18: 46,693,766 (GRCm39)	I107T	probably damaging	Het
Tm7sf3	C	T	6: 146,525,179 (GRCm39)	D89N	possibly damaging	Het
Tmem268	G	A	4: 63,488,256 (GRCm39)	V135M	probably benign	Het
Toporsl	A	G	4: 52,611,663 (GRCm39)	T519A	possibly damaging	Het
Trim43b	G	A	9: 88,973,608 (GRCm39)	L42F	possibly damaging	Het
Ttf2	A	C	3: 100,852,089 (GRCm39)	V1019G	probably damaging	Het
Ugt3a1	A	G	15: 9,292,158 (GRCm39)	D97G	probably benign	Het
Uncx	A	G	5: 139,532,475 (GRCm39)	N180S	probably damaging	Het
Vmn2r23	A	G	6: 123,710,352 (GRCm39)	T552A	probably damaging	Het
Vmn2r51	A	T	7: 9,833,816 (GRCm39)	H407Q	probably damaging	Het
Wdfy4	C	T	14: 32,855,518 (GRCm39)	E699K		Het
Wdr95	A	G	5: 149,504,165 (GRCm39)	T324A	probably benign	Het

Other mutations in Nfe2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Nfe2l1	APN	11	96,708,542 (GRCm39)	missense	probably benign	0.23
IGL02676:Nfe2l1	APN	11	96,718,491 (GRCm39)	missense	probably damaging	0.97
IGL02868:Nfe2l1	APN	11	96,710,966 (GRCm39)	missense	probably damaging	1.00
IGL03278:Nfe2l1	APN	11	96,713,018 (GRCm39)	missense	probably benign	0.04
R0218:Nfe2l1	UTSW	11	96,718,439 (GRCm39)	missense	probably damaging	1.00
R0453:Nfe2l1	UTSW	11	96,718,194 (GRCm39)	missense	probably damaging	0.99
R0637:Nfe2l1	UTSW	11	96,718,514 (GRCm39)	missense	probably damaging	1.00
R3891:Nfe2l1	UTSW	11	96,710,823 (GRCm39)	missense	possibly damaging	0.93
R4108:Nfe2l1	UTSW	11	96,710,220 (GRCm39)	critical splice donor site	probably null
R4234:Nfe2l1	UTSW	11	96,710,735 (GRCm39)	missense	probably damaging	1.00
R4720:Nfe2l1	UTSW	11	96,718,515 (GRCm39)	missense	probably damaging	1.00
R5102:Nfe2l1	UTSW	11	96,712,934 (GRCm39)	missense	probably damaging	0.99
R5319:Nfe2l1	UTSW	11	96,710,205 (GRCm39)	missense	probably damaging	0.98
R5929:Nfe2l1	UTSW	11	96,718,185 (GRCm39)	missense	probably damaging	0.99
R6263:Nfe2l1	UTSW	11	96,708,570 (GRCm39)	missense	probably benign	0.23
R6375:Nfe2l1	UTSW	11	96,710,877 (GRCm39)	missense	probably damaging	1.00
R6450:Nfe2l1	UTSW	11	96,718,161 (GRCm39)	missense	possibly damaging	0.80
R6705:Nfe2l1	UTSW	11	96,718,451 (GRCm39)	missense	probably damaging	1.00
R6907:Nfe2l1	UTSW	11	96,710,636 (GRCm39)	missense	probably damaging	1.00
R7161:Nfe2l1	UTSW	11	96,708,546 (GRCm39)	missense	probably benign	0.23
R7411:Nfe2l1	UTSW	11	96,713,009 (GRCm39)	missense	probably benign	0.37
R7420:Nfe2l1	UTSW	11	96,710,739 (GRCm39)	missense	probably benign	0.02
R7495:Nfe2l1	UTSW	11	96,710,622 (GRCm39)	missense	probably damaging	0.98
R7625:Nfe2l1	UTSW	11	96,710,271 (GRCm39)	missense	probably damaging	1.00
R8134:Nfe2l1	UTSW	11	96,710,585 (GRCm39)	missense	possibly damaging	0.83
R8252:Nfe2l1	UTSW	11	96,710,058 (GRCm39)	missense	probably benign	0.00
R8762:Nfe2l1	UTSW	11	96,711,306 (GRCm39)	missense	probably damaging	1.00
R8902:Nfe2l1	UTSW	11	96,708,620 (GRCm39)	missense	unknown
R9074:Nfe2l1	UTSW	11	96,710,573 (GRCm39)	missense	possibly damaging	0.51
R9084:Nfe2l1	UTSW	11	96,710,957 (GRCm39)	missense	probably damaging	0.99
R9251:Nfe2l1	UTSW	11	96,710,421 (GRCm39)	missense	probably damaging	1.00
R9472:Nfe2l1	UTSW	11	96,710,159 (GRCm39)	missense	probably damaging	0.99
R9682:Nfe2l1	UTSW	11	96,710,944 (GRCm39)	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