|Institutional Source||Beutler Lab|
|Gene Name||nuclear factor, interleukin 3, regulated|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4235 (G1)|
|Chromosomal Location||52967209-52981073 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 52968799 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 23 (D23G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000065363 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000071065]|
|Predicted Effect||probably benign
AA Change: D23G
PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
AA Change: D23G
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0715|
|Coding Region Coverage||
|Validation Efficiency||97% (68/70)|
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'- GAGATCTTTTGGCAGCTTCG -3'
(R):5'- TTTACCCTGTGCCGGACAAC -3'
(F):5'- GCAGCTTCGTTGTTTTTCCG -3'
(R):5'- CCTGTGCCGGACAACAGAAG -3'