Incidental Mutation 'R5404:Nfil3'
ID 428640
Institutional Source Beutler Lab
Gene Symbol Nfil3
Ensembl Gene ENSMUSG00000056749
Gene Name nuclear factor, interleukin 3, regulated
Synonyms E4BP4
MMRRC Submission 042975-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5404 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 53121245-53135109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 53122091 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 271 (S271F)
Ref Sequence ENSEMBL: ENSMUSP00000065363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071065]
AlphaFold O08750
Predicted Effect probably damaging
Transcript: ENSMUST00000071065
AA Change: S271F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: S271F

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.0%
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T C 15: 60,791,545 (GRCm39) H297R probably benign Het
Ccnk A T 12: 108,161,882 (GRCm39) K262N possibly damaging Het
Clec4b2 A T 6: 123,158,308 (GRCm39) Y58F probably benign Het
Cp A C 3: 20,043,292 (GRCm39) T1027P possibly damaging Het
Cpox G A 16: 58,495,649 (GRCm39) G322D probably damaging Het
Cry1 T C 10: 85,020,283 (GRCm39) N18S probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Dock10 A G 1: 80,481,630 (GRCm39) probably benign Het
Fance A T 17: 28,537,034 (GRCm39) R58W probably null Het
Fermt1 T C 2: 132,776,789 (GRCm39) D233G possibly damaging Het
Gabpa T A 16: 84,657,351 (GRCm39) Y409N probably damaging Het
Gpr162 A G 6: 124,838,606 (GRCm39) S15P possibly damaging Het
Grid2 T A 6: 63,907,894 (GRCm39) I178N probably damaging Het
Il17re T C 6: 113,446,063 (GRCm39) V233A probably benign Het
Lemd3 G A 10: 120,767,863 (GRCm39) Q672* probably null Het
Myh15 A G 16: 48,980,341 (GRCm39) T1488A probably benign Het
Narf T A 11: 121,133,452 (GRCm39) H84Q probably benign Het
Nedd1 C T 10: 92,552,054 (GRCm39) V69I probably benign Het
Npc1 A G 18: 12,346,356 (GRCm39) L280P possibly damaging Het
Or2n1e T A 17: 38,586,517 (GRCm39) L285* probably null Het
Or4p20 C T 2: 88,254,145 (GRCm39) V75M probably damaging Het
Or51a25 T A 7: 102,372,807 (GRCm39) I297F possibly damaging Het
Poli A G 18: 70,642,503 (GRCm39) S503P probably benign Het
Rbm5 T C 9: 107,642,752 (GRCm39) E94G probably damaging Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rps6ka5 T C 12: 100,582,352 (GRCm39) I173M probably damaging Het
Slc40a1 A G 1: 45,951,488 (GRCm39) L223P probably damaging Het
Smg1 T C 7: 117,806,131 (GRCm39) K213E probably damaging Het
Spem1 T A 11: 69,711,763 (GRCm39) K300N probably damaging Het
Tchh A G 3: 93,354,982 (GRCm39) E1474G unknown Het
Tenm4 A T 7: 96,543,887 (GRCm39) R1968W probably damaging Het
Tshz2 A T 2: 169,726,240 (GRCm39) M279L probably benign Het
Tuba3a G T 6: 125,258,555 (GRCm39) T145K possibly damaging Het
Other mutations in Nfil3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R9143:Nfil3 UTSW 13 53,121,792 (GRCm39) missense probably benign
R9733:Nfil3 UTSW 13 53,121,591 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AACTCGCTGTCCAAAGCCTC -3'
(R):5'- GAGAACAAGTTCCCTGTGATCAAG -3'

Sequencing Primer
(F):5'- CATGGCCTTGGCTTTAATCCGAAG -3'
(R):5'- TTCCCTGTGATCAAGCAGGAG -3'
Posted On 2016-09-06