Mutagenetix > Incidental Mutation

Incidental Mutation 'R7161:Nfe2l1'

557594

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 #

R7161 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96817414-96829968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96817720 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 740 (F740L)

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 benign
Transcript: ENSMUST00000081775

SMART Domains

Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615

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: ENSMUST00000107657

SMART Domains

Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615

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: ENSMUST00000107658

SMART Domains

Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615

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: ENSMUST00000107659
AA Change: F740L

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103286
Gene: ENSMUSG00000038615
AA Change: F740L

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 benign
Transcript: ENSMUST00000167149

SMART Domains

Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (75/75)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	C	A	2: 130,806,788	R258L	unknown	Het
Abca8a	T	A	11: 110,074,142	Q443L	probably benign	Het
Acad12	A	T	5: 121,607,373	M285K	probably damaging	Het
Afdn	T	A	17: 13,888,946	M1592K	possibly damaging	Het
Bpifb9b	A	T	2: 154,313,615	T345S	possibly damaging	Het
Bub1b	A	G	2: 118,626,053	E526G	probably damaging	Het
Car13	A	G	3: 14,645,208	D70G	probably benign	Het
Ccdc127	A	T	13: 74,352,877	L4F	probably damaging	Het
Ccng2	C	G	5: 93,273,343	S237R	probably benign	Het
Ccr10	A	G	11: 101,174,278	I142T	probably benign	Het
Cep126	C	T	9: 8,087,399	V1005M	probably benign	Het
Chil6	A	G	3: 106,394,412	I124T	probably benign	Het
Coq8a	A	G	1: 180,170,341		probably null	Het
Ctf2	T	A	7: 127,719,304	K174N	probably damaging	Het
Dapk1	T	C	13: 60,696,395	V76A	possibly damaging	Het
Disp1	A	G	1: 183,087,625	M1077T	possibly damaging	Het
Dnah9	T	A	11: 65,855,372	K3972*	probably null	Het
Dusp7	T	A	9: 106,368,915	S40T	unknown	Het
Emg1	T	C	6: 124,705,749	T88A	probably benign	Het
Fbxo5	A	G	10: 5,802,043	V190A	possibly damaging	Het
Fbxw20	T	G	9: 109,225,980	D167A	probably damaging	Het
Fes	A	T	7: 80,380,861	V562E	probably damaging	Het
Foxj1	C	G	11: 116,332,408	G190R	probably damaging	Het
Gatsl2	C	A	5: 134,135,190	T75N	probably damaging	Het
Gdf15	T	G	8: 70,631,342	S91R	possibly damaging	Het
Gm4846	C	A	1: 166,487,010	V355F	probably damaging	Het
Herc4	T	A	10: 63,308,415	Y776N	probably benign	Het
Hspg2	G	A	4: 137,514,719	R588H	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778	Y56*	probably null	Het
Itpr1	C	T	6: 108,386,640	A741V	probably damaging	Het
Kbtbd8	T	A	6: 95,126,696	I519K	probably benign	Het
Kcnh5	T	A	12: 74,897,709	Q922L	probably benign	Het
Kiss1r	T	C	10: 79,919,489	Y103H	probably damaging	Het
Knl1	A	G	2: 119,070,785	E989G	possibly damaging	Het
Lamc1	A	T	1: 153,226,454	L1466Q	probably damaging	Het
Lap3	C	T	5: 45,498,467	P138L	probably benign	Het
Lhx1	G	A	11: 84,519,872	P300S	probably damaging	Het
Mppe1	G	A	18: 67,229,771	A131V	probably benign	Het
Neb	A	T	2: 52,271,592	Y2063N	probably damaging	Het
Nop10	A	G	2: 112,262,046	N8S	probably benign	Het
Olfr1097	A	C	2: 86,890,649	H175Q	probably benign	Het
Opalin	T	A	19: 41,069,935	T20S	possibly damaging	Het
Pask	C	T	1: 93,310,905	S1286N	probably benign	Het
Pcdhgc4	A	T	18: 37,815,663	E44V	probably damaging	Het
Pde1a	A	G	2: 79,865,214	M463T	probably benign	Het
Pde6a	A	T	18: 61,281,525	M714L	probably benign	Het
Pik3c2b	A	G	1: 133,106,112	E1618G	probably damaging	Het
Pou2f3	T	C	9: 43,139,363	N234S	probably damaging	Het
Ptprm	T	A	17: 66,809,627	T886S	probably benign	Het
Rab11fip3	C	A	17: 26,069,090	D30Y	probably benign	Het
Rassf10	A	T	7: 112,954,500	I103F	probably damaging	Het
Rfc4	A	G	16: 23,115,433	I206T	probably benign	Het
Rhcg	A	G	7: 79,617,441	F29S	probably damaging	Het
Sec11c	A	G	18: 65,812,732	I89V	probably benign	Het
Serac1	T	C	17: 6,065,076	D204G	probably damaging	Het
Serpinb3c	T	C	1: 107,273,162	N175S	probably null	Het
Slc25a19	C	T	11: 115,616,547	E250K	possibly damaging	Het
Slc9a8	A	T	2: 167,465,383	Y329F	possibly damaging	Het
Smagp	T	C	15: 100,636,245		probably benign	Het
Spats1	T	A	17: 45,449,169	Q268H	probably benign	Het
Spef2	T	C	15: 9,717,603	T219A	probably benign	Het
Spink13	A	G	18: 62,614,955	M11T	probably benign	Het
Susd1	T	C	4: 59,329,581	D669G	possibly damaging	Het
Svep1	A	G	4: 58,128,859	Y613H	possibly damaging	Het
Tcp10b	T	C	17: 13,081,746	*439Q	probably null	Het
Tmed2	T	A	5: 124,546,920	M133K	possibly damaging	Het
Trpv5	A	T	6: 41,660,536	Y370*	probably null	Het
Ttn	A	G	2: 76,812,244	S13316P	probably damaging	Het
Uap1l1	A	T	2: 25,363,280	M381K	probably damaging	Het
Wdr26	A	G	1: 181,203,130	Y200H	probably damaging	Het
Wdr78	G	A	4: 103,096,616	P129S	probably benign	Het
Zfhx4	A	T	3: 5,244,083	M790L	possibly damaging	Het
Zscan25	T	C	5: 145,286,441	L173P	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
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
R9451:Nfe2l1	UTSW	11	96827627	missense	probably damaging	0.99
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'- TTTTGTCATGTGCTCACAGC -3'
(R):5'- TAGGCTTTCAGCTTCAGGCAG -3'

Sequencing Primer
(F):5'- TTTATAAAAAGCACTCCCAGGCTC -3'
(R):5'- AGGCAGCTTCTTCACAGC -3'

Posted On

2019-06-26