Mutagenetix > Incidental Mutation

Incidental Mutation 'R9143:Nfil3'

694461

Institutional Source

Beutler Lab

Gene Symbol

Nfil3

Ensembl Gene

ENSMUSG00000056749

Gene Name

nuclear factor, interleukin 3, regulated

Synonyms

E4BP4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9143 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53121245-53135109 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53121792 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 371 (S371P)

Ref Sequence

ENSEMBL: ENSMUSP00000065363 (fasta)

Gene Model

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

AlphaFold

O08750

Predicted Effect

probably benign
Transcript: ENSMUST00000071065
AA Change: S371P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: S371P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (44/44)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	C	17: 48,452,605 (GRCm39)	I111M	probably damaging	Het
Arid2	A	G	15: 96,259,715 (GRCm39)	I292V	probably damaging	Het
Atl3	T	C	19: 7,509,408 (GRCm39)	S379P	probably benign	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccnt1	G	A	15: 98,441,688 (GRCm39)	H527Y	probably damaging	Het
Ces1d	T	A	8: 93,912,707 (GRCm39)	I244F	probably damaging	Het
Clec16a	C	A	16: 10,428,964 (GRCm39)	S449R	probably damaging	Het
Cngb3	T	A	4: 19,375,190 (GRCm39)		probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Cubn	A	T	2: 13,337,276 (GRCm39)		probably benign	Het
Dsp	C	A	13: 38,377,337 (GRCm39)	S1707R	probably benign	Het
E330034G19Rik	A	T	14: 24,347,004 (GRCm39)	Q162L	possibly damaging	Het
F830045P16Rik	T	C	2: 129,316,502 (GRCm39)	N69S	probably benign	Het
Galnt10	C	T	11: 57,612,146 (GRCm39)	T62I	probably benign	Het
Gm19668	T	C	10: 77,634,960 (GRCm39)	D3G	unknown	Het
Hace1	T	A	10: 45,562,764 (GRCm39)	F760I	probably damaging	Het
Il20rb	A	G	9: 100,356,936 (GRCm39)	Y65H	probably damaging	Het
Insl5	C	A	4: 102,883,841 (GRCm39)	V27L	probably benign	Het
Jade2	T	C	11: 51,715,930 (GRCm39)	D425G	probably benign	Het
Lipg	T	C	18: 75,087,272 (GRCm39)	K183R	probably benign	Het
Lrrc59	T	A	11: 94,525,456 (GRCm39)	L84Q	probably damaging	Het
Lyst	T	A	13: 13,835,750 (GRCm39)	F1811I	probably damaging	Het
Mcf2l	A	G	8: 13,062,883 (GRCm39)		probably benign	Het
Nin	A	G	12: 70,137,349 (GRCm39)	S76P		Het
Nuak1	C	T	10: 84,213,951 (GRCm39)		probably null	Het
Or8b47	A	T	9: 38,427,917 (GRCm39)		probably benign	Het
Or8g19	A	T	9: 39,055,722 (GRCm39)	I109F	possibly damaging	Het
Pld1	A	G	3: 28,132,643 (GRCm39)		probably benign	Het
Rcvrn	T	C	11: 67,590,890 (GRCm39)	F158S	possibly damaging	Het
Skap2	T	C	6: 51,885,409 (GRCm39)	T200A	probably benign	Het
Slc6a1	G	T	6: 114,292,503 (GRCm39)		probably benign	Het
Spag17	C	T	3: 99,934,906 (GRCm39)	T704M	probably benign	Het
Stxbp1	A	G	2: 32,688,157 (GRCm39)	S503P	probably damaging	Het
Susd5	A	T	9: 113,924,879 (GRCm39)	E254V	possibly damaging	Het
Sv2a	T	C	3: 96,097,983 (GRCm39)	S529P	possibly damaging	Het
Tigd2	T	A	6: 59,188,310 (GRCm39)	N392K	probably benign	Het
Tmem131l	A	G	3: 83,842,220 (GRCm39)	L525P	probably benign	Het
Tonsl	T	C	15: 76,514,824 (GRCm39)	M1127V	probably damaging	Het
Top2a	T	A	11: 98,900,705 (GRCm39)	E585V	probably benign	Het
Usp19	T	G	9: 108,375,398 (GRCm39)	L847R	probably damaging	Het
Vta1	T	C	10: 14,551,776 (GRCm39)	H141R	possibly damaging	Het
Zfp950	G	T	19: 61,108,778 (GRCm39)	P102T	probably benign	Het
Zzz3	T	C	3: 152,163,908 (GRCm39)	I869T	probably benign	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
R5309:Nfil3	UTSW	13	53,121,656 (GRCm39)	missense	probably damaging	0.98
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
R9733:Nfil3	UTSW	13	53,121,591 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGACCACCTCTGCAGATAAG -3'
(R):5'- TGAAGGTTCCGGAAGTGAAC -3'

Sequencing Primer
(F):5'- GACCACCTCTGCAGATAAGTTTGC -3'
(R):5'- GTTCCGGAAGTGAACCCTTCTG -3'

Posted On

2022-01-20