Mutagenetix > Incidental Mutation

Incidental Mutation 'R2080:Nfil3'

229435

Institutional Source

Beutler Lab

Gene Symbol

Nfil3

Ensembl Gene

ENSMUSG00000056749

Gene Name

nuclear factor, interleukin 3, regulated

Synonyms

E4BP4

MMRRC Submission

040085-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2080 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

52967209-52981073 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 52968033 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 278 (D278E)

Ref Sequence

ENSEMBL: ENSMUSP00000065363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071065]

AlphaFold

O08750

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071065
AA Change: D278E

PolyPhen 2 Score 0.531 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: D278E

Domain	Start	End	E-Value	Type
BRLZ	71	135	2.84e-5	SMART
low complexity region	182	196	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083837

Meta Mutation Damage Score

0.7456

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a transcriptional regulator that binds as a homodimer to activating transcription factor (ATF) sites in many cellular and viral promoters. The encoded protein represses Per1 and Per2 expression and therefore plays a role in the regulation of circadian rhythm. [provided by RefSeq, Feb 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased NK cell differentiation, numbers, and activity. Mice homozygous for a different knock-out allele exhibit reduced class switching and IgE production. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,971,933	D183V	probably damaging	Het
Ambra1	T	A	2: 91,885,719	D858E	probably damaging	Het
Amdhd2	T	C	17: 24,156,604	T370A	probably benign	Het
Amy1	A	G	3: 113,558,094	W449R	probably benign	Het
Aox3	A	T	1: 58,186,280	I1179F	probably benign	Het
Atp10a	C	A	7: 58,824,327	Q1121K	probably damaging	Het
Btaf1	C	T	19: 36,951,148	A123V	probably benign	Het
Car6	T	C	4: 150,198,141	K16E	probably benign	Het
Cgnl1	C	T	9: 71,656,096	D779N	probably benign	Het
Cyp2a4	G	A	7: 26,308,537	R123Q	possibly damaging	Het
D430041D05Rik	C	T	2: 104,156,816	R1895Q	probably damaging	Het
D5Ertd579e	T	A	5: 36,616,206	T282S	probably benign	Het
Dsel	T	C	1: 111,859,962	T948A	probably benign	Het
Ednrb	A	T	14: 103,843,100	I126N	probably damaging	Het
Egln1	A	G	8: 124,948,306	M250T	probably benign	Het
Epb41l3	A	T	17: 69,253,468	I337L	possibly damaging	Het
Epg5	T	C	18: 77,948,745	I219T	probably benign	Het
Gm13030	T	C	4: 138,873,419		probably benign	Het
Gm1527	T	A	3: 28,926,661	C637S	probably benign	Het
Hist1h1a	A	G	13: 23,763,949	N78S	possibly damaging	Het
Insrr	T	C	3: 87,814,291	I1168T	possibly damaging	Het
Ireb2	T	C	9: 54,896,552	V509A	possibly damaging	Het
Kmt2c	T	C	5: 25,354,717	D981G	probably damaging	Het
Ktn1	A	G	14: 47,725,960	E1164G	probably damaging	Het
L3hypdh	A	T	12: 72,079,527	V213E	probably damaging	Het
Masp1	T	G	16: 23,491,959	D241A	probably damaging	Het
Mfsd13b	A	G	7: 120,991,824	I1V	probably null	Het
Muc5b	T	C	7: 141,869,754	V4531A	probably benign	Het
Myh2	A	T	11: 67,174,941		probably null	Het
Naip5	A	G	13: 100,221,533	L1065P	probably damaging	Het
Necab1	T	C	4: 15,140,219		probably benign	Het
Nemf	A	G	12: 69,353,786		probably benign	Het
Nup98	T	C	7: 102,180,424	N393S	probably damaging	Het
Ogdh	T	A	11: 6,349,393	M753K	probably benign	Het
Olfr11	A	T	13: 21,639,436	V29E	probably damaging	Het
Olfr1297	C	T	2: 111,621,739	V112M	probably benign	Het
Olfr273	T	C	4: 52,855,568	Y315C	probably benign	Het
Olfr561	T	C	7: 102,775,243	F240L	probably benign	Het
Olfr901	T	A	9: 38,431,082	S267T	probably benign	Het
Pkd2	A	G	5: 104,477,123	K262E	probably benign	Het
Plce1	C	T	19: 38,727,013		probably benign	Het
Ppm1f	T	A	16: 16,923,880	M406K	possibly damaging	Het
Ptgs1	C	T	2: 36,242,847	Q286*	probably null	Het
Scube2	T	C	7: 109,808,505	T743A	possibly damaging	Het
Tipin	T	A	9: 64,290,376	L69*	probably null	Het
Tlk1	T	A	2: 70,738,445	K404N	probably damaging	Het
Tmem59	C	A	4: 107,178,774	L16I	probably damaging	Het
Utrn	T	C	10: 12,737,082	E426G	probably benign	Het
Xdh	A	T	17: 73,909,325	S709T	probably damaging	Het
Yjefn3	T	C	8: 69,889,487	N28D	probably damaging	Het
Zfp598	A	C	17: 24,679,667	D480A	probably damaging	Het

Other mutations in Nfil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Nfil3	APN	13	52967574	missense	probably damaging	1.00
IGL01017:Nfil3	APN	13	52968019	missense	probably damaging	1.00
IGL02158:Nfil3	APN	13	52968152	missense	probably damaging	0.99
luna	UTSW	13	52968676	missense	probably damaging	1.00
R0140:Nfil3	UTSW	13	52967645	nonsense	probably null
R4235:Nfil3	UTSW	13	52968799	missense	probably benign	0.08
R4773:Nfil3	UTSW	13	52968014	missense	probably damaging	0.99
R5002:Nfil3	UTSW	13	52968676	missense	probably damaging	1.00
R5155:Nfil3	UTSW	13	52968580	missense	probably damaging	1.00
R5309:Nfil3	UTSW	13	52967620	missense	probably damaging	0.98
R5312:Nfil3	UTSW	13	52967620	missense	probably damaging	0.98
R5404:Nfil3	UTSW	13	52968055	missense	probably damaging	1.00
R5679:Nfil3	UTSW	13	52968491	missense	possibly damaging	0.79
R5855:Nfil3	UTSW	13	52968710	missense	probably benign	0.05
R6855:Nfil3	UTSW	13	52968605	nonsense	probably null
R7836:Nfil3	UTSW	13	52967932	missense	possibly damaging	0.56
R7870:Nfil3	UTSW	13	52968413	missense	probably damaging	0.99
R8394:Nfil3	UTSW	13	52967813	missense	probably benign	0.09
R8713:Nfil3	UTSW	13	52968011	missense	possibly damaging	0.94
R9008:Nfil3	UTSW	13	52967573	missense	probably damaging	1.00
R9143:Nfil3	UTSW	13	52967756	missense	probably benign
R9733:Nfil3	UTSW	13	52967555	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTCAAACTCGCTGTCCAAAG -3'
(R):5'- AGTTCCCTGTGATCAAGCAG -3'

Sequencing Primer
(F):5'- AAAGCCTCCACTTTGACCTG -3'
(R):5'- TGTGATCAAGCAGGAGCCC -3'

Posted On

2014-09-17