Mutagenetix > Incidental Mutations

Incidental Mutation 'R7411:Nfe2l1'

575098

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96817414-96829968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96822183 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 216 (T216N)

Ref Sequence

ENSEMBL: ENSMUSP00000103286 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081775
AA Change: T216N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615
AA Change: T216N

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
AA Change: T216N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615
AA Change: T216N

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
AA Change: T216N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615
AA Change: T216N

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: T216N

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103286
Gene: ENSMUSG00000038615
AA Change: T216N

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
AA Change: T58N

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000121423
Gene: ENSMUSG00000038615
AA Change: T58N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167110
AA Change: T58N

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127804
Gene: ENSMUSG00000038615
AA Change: T58N

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
AA Change: T216N

PolyPhen 2 Score 0.154 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615
AA Change: T216N

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	T	19: 3,717,241	T276I	possibly damaging	Het
9130011E15Rik	A	C	19: 45,965,435	V170G	probably benign	Het
Abca17	A	G	17: 24,328,569	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936		probably null	Het
Abcc12	C	A	8: 86,560,850	R122L	possibly damaging	Het
Abcc8	A	G	7: 46,165,917		probably null	Het
Adam28	C	T	14: 68,626,947	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852	T806S	probably benign	Het
Atoh1	T	A	6: 64,729,930	I203N	probably damaging	Het
Cables1	A	G	18: 11,840,515	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198	Q363*	probably null	Het
Ceacam5	T	A	7: 17,750,753	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186	M70K	probably benign	Het
Dstyk	G	A	1: 132,417,666	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195		probably null	Het
Gm11639	T	G	11: 104,999,723	N4210K	probably benign	Het
Gm28710	A	T	5: 16,824,765	T500S	possibly damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Gm5861	T	A	5: 11,183,149		probably null	Het
Gm9513	T	C	9: 36,475,684	V16A	possibly damaging	Het
Guk1	A	G	11: 59,185,985	F91L		Het
Ints1	C	T	5: 139,764,260	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063	M1K	probably null	Het
Jrk	C	T	15: 74,707,199	R79H	possibly damaging	Het
Kcnu1	G	T	8: 25,892,088	V489L	probably damaging	Het
Kctd7	C	T	5: 130,152,424	T209M	probably benign	Het
Kdm5a	T	A	6: 120,426,815	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908	L276P	probably damaging	Het
Med25	A	G	7: 44,878,243	W730R	probably damaging	Het
Muc4	T	C	16: 32,751,322	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842	F673I	probably damaging	Het
Nos2	G	A	11: 78,944,855		probably null	Het
Nphp4	T	A	4: 152,554,717	I935N	probably benign	Het
Ntn1	G	A	11: 68,386,089	A11V	probably benign	Het
Olfr1257	T	C	2: 89,881,261	V145A	probably damaging	Het
Olfr1395	A	T	11: 49,148,994	M246L	probably benign	Het
Pcdha12	A	G	18: 37,021,608	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192		probably null	Het
Rhbdl2	G	A	4: 123,829,642	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Sema3a	T	G	5: 13,516,263	Y171*	probably null	Het
Set	A	G	2: 30,066,885	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038		unknown	Het
Slc6a20b	A	G	9: 123,604,948	I275T	probably benign	Het
Stradb	A	C	1: 58,988,518	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,056,111	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,718,116	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131	M1078R		Het
Wdr63	A	G	3: 146,097,145	V97A	probably damaging	Het
Ypel5	G	A	17: 72,846,444		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CAGAGCAAGTGTTCTGGAAGTG -3'
(R):5'- CTCATTGGAGCGTCAGTAGG -3'

Sequencing Primer
(F):5'- AAGTGTTCCAGCATGGTGAGTC -3'
(R):5'- TAGGACCGGGAGCTTTCTC -3'

Posted On

2019-10-07