Incidental Mutation 'IGL00468:Nfil3'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfil3
Ensembl Gene ENSMUSG00000056749
Gene Namenuclear factor, interleukin 3, regulated
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00468
Quality Score
Chromosomal Location52967209-52981073 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 52967574 bp
Amino Acid Change Leucine to Phenylalanine at position 431 (L431F)
Ref Sequence ENSEMBL: ENSMUSP00000065363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071065]
Predicted Effect probably damaging
Transcript: ENSMUST00000071065
AA Change: L431F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: L431F

BRLZ 71 135 2.84e-5 SMART
low complexity region 182 196 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083837
Coding Region Coverage
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,580,453 E123G probably damaging Het
Alpk2 A T 18: 65,305,823 L1300Q probably benign Het
Armc9 T C 1: 86,198,339 Y51H probably damaging Het
Bcl11b A G 12: 107,965,815 V166A possibly damaging Het
Cfap70 T A 14: 20,412,462 D565V possibly damaging Het
Cops5 C A 1: 10,034,070 G132W probably damaging Het
Dync1i1 G A 6: 5,972,135 V468M probably damaging Het
Fam126b T G 1: 58,530,232 E396A probably benign Het
Fasn A C 11: 120,820,539 D216E probably damaging Het
Fktn T A 4: 53,734,866 I168K probably benign Het
Gal3st2c A G 1: 94,009,049 R239G probably benign Het
Glt6d1 A C 2: 25,811,029 L36R probably damaging Het
Herc3 A G 6: 58,918,766 I1000V probably benign Het
Kif14 G A 1: 136,469,018 S354N probably benign Het
Lhcgr C T 17: 88,742,446 V551I probably benign Het
Lmna G T 3: 88,484,684 S437R probably benign Het
Lrrc49 A G 9: 60,687,868 probably benign Het
Lrriq3 A G 3: 155,101,179 D155G probably damaging Het
Mcf2 G A X: 60,133,735 T104I probably damaging Het
Men1 G A 19: 6,337,207 probably null Het
Mipep A G 14: 60,875,260 E664G probably benign Het
Mybpc1 A T 10: 88,549,262 V519D probably damaging Het
Sctr T A 1: 120,044,720 V197E probably damaging Het
Sesn2 T C 4: 132,499,813 T103A probably benign Het
Sptbn4 A T 7: 27,417,965 V453D probably damaging Het
Supt5 A T 7: 28,315,382 H1023Q probably benign Het
Tcof1 T C 18: 60,814,568 probably benign Het
Tekt2 T A 4: 126,323,189 E262D possibly damaging Het
Tenm4 T A 7: 96,874,472 H1732Q probably damaging Het
Tln2 T C 9: 67,344,187 D840G possibly damaging Het
Tox4 A G 14: 52,285,745 D54G probably damaging Het
Other mutations in Nfil3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R2080:Nfil3 UTSW 13 52968033 missense possibly damaging 0.53
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
Posted On2012-04-20