Incidental Mutation 'IGL00468:Nfil3'
ID4308
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nfil3
Ensembl Gene ENSMUSG00000056749
Gene Namenuclear factor, interleukin 3, regulated
SynonymsE4BP4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00468
Quality Score
Status
Chromosome13
Chromosomal Location52967209-52981073 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 52967574 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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