Mutagenetix > Incidental Mutations

Incidental Mutation 'R4108:Nfe2l1'

321487

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

040987-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4108 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96817414-96829968 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 96819394 bp

Zygosity

Heterozygous

Amino Acid Change

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: V670I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000080467
Gene: ENSMUSG00000038615
AA Change: V670I

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: V670I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103284
Gene: ENSMUSG00000038615
AA Change: V670I

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: V670I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000103285
Gene: ENSMUSG00000038615
AA Change: V670I

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 null
Transcript: ENSMUST00000107659

SMART Domains

Protein: ENSMUSP00000103286
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	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: V512I

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

SMART Domains

Protein: ENSMUSP00000127804
Gene: ENSMUSG00000038615
AA Change: V512I

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: V670I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000128527
Gene: ENSMUSG00000038615
AA Change: V670I

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
AA Change: V382I

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000131585
Gene: ENSMUSG00000038615
AA Change: V382I

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

0.0954

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

97% (65/67)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,225,934	Y82C	probably damaging	Het
4930579F01Rik	T	C	3: 138,183,670	N62S	probably benign	Het
Acad10	G	T	5: 121,631,464	S643Y	probably damaging	Het
Acox3	T	C	5: 35,601,552	F369S	probably damaging	Het
Arhgap31	A	G	16: 38,602,426	S1093P	probably damaging	Het
Atp4b	A	G	8: 13,396,640		probably null	Het
Bmper	G	A	9: 23,224,763	V47I	probably benign	Het
Caskin1	C	A	17: 24,502,147	T487K	probably benign	Het
Ccr7	C	T	11: 99,145,378	M239I	probably damaging	Het
Cdh23	C	A	10: 60,410,822	V944L	possibly damaging	Het
Cenpf	A	G	1: 189,683,868	S87P	probably damaging	Het
Chd9	A	T	8: 91,010,676	D1461V	probably benign	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cyb5r2	A	T	7: 107,753,929	M102K	probably damaging	Het
Cyp2j7	T	C	4: 96,199,450	T408A	possibly damaging	Het
Dnajb2	G	T	1: 75,236,899	E6*	probably null	Het
Dtx4	G	A	19: 12,501,123	A32V	probably damaging	Het
Eml5	T	C	12: 98,841,548		probably null	Het
Eml6	A	C	11: 29,805,136	S880A	probably damaging	Het
Fsd2	C	T	7: 81,544,967	V483I	probably benign	Het
Inf2	T	C	12: 112,607,581	L773P	unknown	Het
Kif26b	A	G	1: 178,916,965	Q1095R	possibly damaging	Het
Leprotl1	A	G	8: 34,140,759		probably null	Het
Lrp1b	A	G	2: 40,665,087	V340A	unknown	Het
Myh1	T	C	11: 67,211,577	V898A	probably benign	Het
Ncstn	G	T	1: 172,072,544	N254K	probably damaging	Het
Nfatc1	T	A	18: 80,698,368	H139L	possibly damaging	Het
Nfya	G	T	17: 48,392,884	Y37*	probably null	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr11	A	G	13: 21,638,782	V247A	probably damaging	Het
Olfr844	T	A	9: 19,319,312	Y265*	probably null	Het
Otogl	C	T	10: 107,771,244	V2093I	probably benign	Het
Phc2	A	G	4: 128,707,983	Y77C	probably damaging	Het
Pik3c2g	C	A	6: 139,730,370	A80E	probably benign	Het
Plxnd1	G	T	6: 115,959,315	H1675N	probably damaging	Het
Pou4f3	A	G	18: 42,395,922	K310R	probably damaging	Het
Ppp1r12c	T	C	7: 4,486,566	D199G	probably damaging	Het
Prss22	A	G	17: 23,993,873	Y297H	probably benign	Het
Psmb7	T	A	2: 38,642,199	H78L	probably damaging	Het
Rad51ap2	T	C	12: 11,458,395	C773R	probably damaging	Het
Rpl12	A	T	2: 32,961,824	N8Y	probably damaging	Het
Ryr3	C	G	2: 112,675,873	R3443P	probably damaging	Het
Sbf1	T	C	15: 89,288,585		probably benign	Het
Scn3a	A	G	2: 65,495,035	I1046T	probably benign	Het
Setd1a	G	A	7: 127,799,202		probably benign	Het
Slc15a2	G	T	16: 36,782,393		probably benign	Het
Slc34a2	G	A	5: 53,064,009	V266I	possibly damaging	Het
Smtn	G	A	11: 3,526,449	T144I	probably benign	Het
Spta1	A	G	1: 174,174,556	N84S	probably benign	Het
Sult6b1	G	T	17: 78,906,862	T6N	probably damaging	Het
Supt16	T	C	14: 52,162,731	E985G	probably damaging	Het
Tbcd	T	A	11: 121,493,811	H39Q	probably benign	Het
Tpo	G	A	12: 30,092,586	P713L	probably damaging	Het
Tsg101	T	A	7: 46,892,494	D99V	probably damaging	Het
Ttn	G	C	2: 76,750,871	A23226G	probably damaging	Het
Ttn	C	T	2: 76,778,465	V15990I	probably benign	Het
Ubald1	C	A	16: 4,875,867	M61I	probably benign	Het
Ush1c	C	T	7: 46,198,445	D465N	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Vps54	A	G	11: 21,312,877	I655V	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
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'- TCCAGTTTCGGTCTTAGTGAGC -3'
(R):5'- AAATACCAGCTGAGCGAGGC -3'

Sequencing Primer
(F):5'- GTCTTAGTGAGCGTCCACC -3'
(R):5'- GCCCAGCTCAGCCTCATC -3'

Posted On

2015-06-12