Mutagenetix > Incidental Mutation

Incidental Mutation 'R5309:Nfil3'

404739

Institutional Source

Beutler Lab

Gene Symbol

Nfil3

Ensembl Gene

ENSMUSG00000056749

Gene Name

nuclear factor, interleukin 3, regulated

Synonyms

E4BP4

MMRRC Submission

042892-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5309 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53121245-53135109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53121656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 416 (V416E)

Ref Sequence

ENSEMBL: ENSMUSP00000065363 (fasta)

Gene Model

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

AlphaFold

O08750

Predicted Effect

probably damaging
Transcript: ENSMUST00000071065
AA Change: V416E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: V416E

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.3%

Validation Efficiency

99% (68/69)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	T	C	6: 132,603,540 (GRCm39)	Q72R	unknown	Het
Abca15	T	C	7: 119,944,592 (GRCm39)	V409A	probably damaging	Het
Abcg3	A	C	5: 105,084,465 (GRCm39)	C577G	possibly damaging	Het
Adamtsl5	A	T	10: 80,180,982 (GRCm39)		probably benign	Het
Adgrg3	G	A	8: 95,766,492 (GRCm39)	V388I	probably benign	Het
Ank2	T	C	3: 126,753,417 (GRCm39)	Q288R	probably damaging	Het
Cdc45	C	T	16: 18,614,647 (GRCm39)	R205H	probably damaging	Het
Cdh3	A	G	8: 107,265,652 (GRCm39)	T232A	probably damaging	Het
Cfap210	T	C	2: 69,617,602 (GRCm39)	T60A	possibly damaging	Het
Cntnap5c	A	T	17: 58,666,249 (GRCm39)	E1093V	probably benign	Het
Cplx3	A	T	9: 57,518,360 (GRCm39)	L343Q	probably damaging	Het
Cwh43	A	G	5: 73,574,110 (GRCm39)	H258R	probably benign	Het
Cyp2j6	T	A	4: 96,423,793 (GRCm39)	I192F	probably damaging	Het
Dnaaf5	T	A	5: 139,138,617 (GRCm39)	V266E	probably damaging	Het
Egfr	G	A	11: 16,861,703 (GRCm39)	G1161S	probably benign	Het
Ehmt1	A	G	2: 24,774,207 (GRCm39)	V201A	probably damaging	Het
Exoc7	C	A	11: 116,195,853 (GRCm39)	E28*	probably null	Het
Fam118a	C	T	15: 84,934,956 (GRCm39)	T195M	probably damaging	Het
Fancg	A	G	4: 43,003,019 (GRCm39)	F613L	probably benign	Het
Fbxo10	A	T	4: 45,042,036 (GRCm39)	I731N	possibly damaging	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
Gfm2	G	A	13: 97,299,659 (GRCm39)	A406T	probably damaging	Het
Gnal	G	A	18: 67,346,178 (GRCm39)	R219K	possibly damaging	Het
Helz2	T	A	2: 180,876,639 (GRCm39)	E1285V	probably benign	Het
Ighv1-74	A	G	12: 115,766,501 (GRCm39)	S39P	probably damaging	Het
Ipo11	T	C	13: 106,970,481 (GRCm39)		probably benign	Het
Klc1	A	G	12: 111,762,055 (GRCm39)	K575R	possibly damaging	Het
Larp1	T	C	11: 57,941,634 (GRCm39)	V689A	possibly damaging	Het
Mki67	A	T	7: 135,302,559 (GRCm39)	V825E	probably damaging	Het
Mmp9	T	A	2: 164,792,715 (GRCm39)		probably benign	Het
Myog	A	G	1: 134,218,064 (GRCm39)	K91E	probably damaging	Het
Nup160	G	T	2: 90,563,176 (GRCm39)	E1314*	probably null	Het
Or4g17	T	C	2: 111,210,179 (GRCm39)	V278A	possibly damaging	Het
Or4k35	T	G	2: 111,100,655 (GRCm39)	D19A	probably benign	Het
Or6c66b	A	C	10: 129,377,134 (GRCm39)	M243L	probably benign	Het
Or6c75	T	A	10: 129,337,383 (GRCm39)	V210E	probably damaging	Het
Osbpl8	T	A	10: 111,106,418 (GRCm39)	V275E	probably benign	Het
Osbpl9	A	G	4: 108,923,352 (GRCm39)	S520P	probably damaging	Het
Ppp4r4	T	A	12: 103,573,147 (GRCm39)		probably null	Het
Proz	T	C	8: 13,111,049 (GRCm39)	L7P	probably damaging	Het
Ptpn13	G	A	5: 103,688,919 (GRCm39)	S904N	probably damaging	Het
Rap1gds1	A	G	3: 138,664,389 (GRCm39)	L322P	probably damaging	Het
Rnf5	A	G	17: 34,820,562 (GRCm39)	F175S	probably benign	Het
Sema4a	G	A	3: 88,344,343 (GRCm39)	S636F	probably damaging	Het
Sfrp2	A	G	3: 83,676,708 (GRCm39)	D193G	probably damaging	Het
Shoc2	T	C	19: 53,976,164 (GRCm39)	V18A	probably benign	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc10a6	A	T	5: 103,756,958 (GRCm39)	C269S	probably damaging	Het
Slc34a2	A	G	5: 53,226,830 (GRCm39)	E651G	probably damaging	Het
Snx13	C	T	12: 35,194,324 (GRCm39)	Q956*	probably null	Het
Spg21	A	G	9: 65,376,084 (GRCm39)	I31V	probably benign	Het
Srpk2	T	C	5: 23,730,716 (GRCm39)	K268E	probably damaging	Het
Supt16	T	C	14: 52,400,155 (GRCm39)	E996G	probably damaging	Het
Syf2	A	G	4: 134,663,380 (GRCm39)	D184G	probably benign	Het
Tmem45a2	T	C	16: 56,859,370 (GRCm39)	D287G	possibly damaging	Het
Utrn	A	T	10: 12,603,513 (GRCm39)	D627E	probably damaging	Het
Vmn1r170	T	A	7: 23,305,880 (GRCm39)	I94N	probably damaging	Het
Vmn2r103	A	T	17: 20,013,296 (GRCm39)	N139I	probably benign	Het
Vmn2r15	T	A	5: 109,440,956 (GRCm39)	I301F	probably damaging	Het
Vps35l	T	C	7: 118,412,799 (GRCm39)	I629T	probably damaging	Het
Zfp949	A	C	9: 88,449,236 (GRCm39)	T14P	possibly damaging	Het

Other mutations in Nfil3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00468:Nfil3	APN	13	53,121,610 (GRCm39)	missense	probably damaging	1.00
IGL01017:Nfil3	APN	13	53,122,055 (GRCm39)	missense	probably damaging	1.00
IGL02158:Nfil3	APN	13	53,122,188 (GRCm39)	missense	probably damaging	0.99
luna	UTSW	13	53,122,712 (GRCm39)	missense	probably damaging	1.00
R0140:Nfil3	UTSW	13	53,121,681 (GRCm39)	nonsense	probably null
R2080:Nfil3	UTSW	13	53,122,069 (GRCm39)	missense	possibly damaging	0.53
R4235:Nfil3	UTSW	13	53,122,835 (GRCm39)	missense	probably benign	0.08
R4773:Nfil3	UTSW	13	53,122,050 (GRCm39)	missense	probably damaging	0.99
R5002:Nfil3	UTSW	13	53,122,712 (GRCm39)	missense	probably damaging	1.00
R5155:Nfil3	UTSW	13	53,122,616 (GRCm39)	missense	probably damaging	1.00
R5312:Nfil3	UTSW	13	53,121,656 (GRCm39)	missense	probably damaging	0.98
R5404:Nfil3	UTSW	13	53,122,091 (GRCm39)	missense	probably damaging	1.00
R5679:Nfil3	UTSW	13	53,122,527 (GRCm39)	missense	possibly damaging	0.79
R5855:Nfil3	UTSW	13	53,122,746 (GRCm39)	missense	probably benign	0.05
R6855:Nfil3	UTSW	13	53,122,641 (GRCm39)	nonsense	probably null
R7836:Nfil3	UTSW	13	53,121,968 (GRCm39)	missense	possibly damaging	0.56
R7870:Nfil3	UTSW	13	53,122,449 (GRCm39)	missense	probably damaging	0.99
R8394:Nfil3	UTSW	13	53,121,849 (GRCm39)	missense	probably benign	0.09
R8713:Nfil3	UTSW	13	53,122,047 (GRCm39)	missense	possibly damaging	0.94
R9008:Nfil3	UTSW	13	53,121,609 (GRCm39)	missense	probably damaging	1.00
R9143:Nfil3	UTSW	13	53,121,792 (GRCm39)	missense	probably benign
R9733:Nfil3	UTSW	13	53,121,591 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTTAGAGGTCCAGTGGAAATTC -3'
(R):5'- CGATGCGATCGCCAAAAGAC -3'

Sequencing Primer
(F):5'- GTCCAGTGGAAATTCAGTATGGTACC -3'
(R):5'- CATTTTGACCTGGAGAAACATGG -3'

Posted On

2016-07-22