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|Institutional Source||Beutler Lab|
|Gene Name||nuclear factor, interleukin 3, regulated|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5312 (G1)|
|Chromosomal Location||52967209-52981073 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 52967620 bp|
|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]|
|Predicted Effect||probably damaging
AA Change: V416E
PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
AA Change: V416E
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
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||
|Other mutations in Nfil3||
(F):5'- ATGGTACCAACAGCCTCCTC -3'
(R):5'- AGGCATGCAGAAACTCTCTTCAC -3'
(F):5'- CCTCCATGCATAGCTCGGTCAG -3'
(R):5'- CGATGCGATCGCCAAAAG -3'