Incidental Mutation 'R6855:Nfil3'
ID 535213
Institutional Source Beutler Lab
Gene Symbol Nfil3
Ensembl Gene ENSMUSG00000056749
Gene Name nuclear factor, interleukin 3, regulated
Synonyms E4BP4
MMRRC Submission 045024-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6855 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 53121245-53135109 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 53122641 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 88 (K88*)
Ref Sequence ENSEMBL: ENSMUSP00000065363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071065]
AlphaFold O08750
Predicted Effect probably null
Transcript: ENSMUST00000071065
AA Change: K88*
SMART Domains Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: K88*

DomainStartEndE-ValueType
BRLZ 71 135 2.84e-5 SMART
low complexity region 182 196 N/A INTRINSIC
Meta Mutation Damage Score 0.9754 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 100% (57/57)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,114,844 (GRCm39) S228F probably damaging Het
Cdh23 A T 10: 60,141,901 (GRCm39) M3062K possibly damaging Het
Cdh8 G C 8: 99,916,849 (GRCm39) S422C probably damaging Het
Col15a1 G T 4: 47,245,544 (GRCm39) K98N probably damaging Het
Cyp3a57 T A 5: 145,309,376 (GRCm39) L238H probably damaging Het
Dchs2 G A 3: 83,255,501 (GRCm39) R2399H probably benign Het
Dennd4c A C 4: 86,754,694 (GRCm39) H1568P probably benign Het
Dkk2 T G 3: 131,883,683 (GRCm39) C194W probably damaging Het
Dnm2 C T 9: 21,387,881 (GRCm39) R369C probably damaging Het
Efcab7 T G 4: 99,757,777 (GRCm39) L308* probably null Het
Elp2 T A 18: 24,739,934 (GRCm39) N53K possibly damaging Het
Eml6 T C 11: 29,701,381 (GRCm39) probably null Het
Erich3 G T 3: 154,468,286 (GRCm39) E913* probably null Het
Fam186a T A 15: 99,852,756 (GRCm39) Y154F unknown Het
Fhl3 G A 4: 124,601,315 (GRCm39) D113N probably benign Het
Fryl A T 5: 73,216,843 (GRCm39) M2149K probably damaging Het
Gbf1 T C 19: 46,268,380 (GRCm39) Y1251H probably benign Het
Ghitm C A 14: 36,847,859 (GRCm39) G262W probably null Het
Gm14325 T A 2: 177,474,635 (GRCm39) H148L probably damaging Het
Grxcr1 C A 5: 68,189,437 (GRCm39) N69K possibly damaging Het
Itprid2 C T 2: 79,488,049 (GRCm39) R711C probably damaging Het
Kcnma1 A G 14: 23,417,679 (GRCm39) I846T probably damaging Het
Lama1 A G 17: 68,089,150 (GRCm39) Y1607C possibly damaging Het
Lrp1b G C 2: 40,518,708 (GRCm39) H175D possibly damaging Het
Lrrc2 T A 9: 110,782,250 (GRCm39) probably null Het
Mpp3 A G 11: 101,904,151 (GRCm39) F291L probably benign Het
Nek7 C T 1: 138,443,420 (GRCm39) G178R probably damaging Het
Nit1 A C 1: 171,171,130 (GRCm39) V194G probably damaging Het
Nup210 T C 6: 91,017,835 (GRCm39) M1052V probably benign Het
Nup210l A G 3: 90,044,231 (GRCm39) T511A probably benign Het
Nwd2 G T 5: 63,961,794 (GRCm39) M459I probably benign Het
Or8k31-ps1 T C 2: 86,356,513 (GRCm39) N3D probably benign Het
Peg3 A C 7: 6,711,797 (GRCm39) S1142A probably benign Het
Phf3 T A 1: 30,859,204 (GRCm39) K959N probably damaging Het
Piezo2 C T 18: 63,223,950 (GRCm39) probably null Het
Pigz A G 16: 31,764,036 (GRCm39) I365V possibly damaging Het
Plec T A 15: 76,070,818 (GRCm39) Q860L probably damaging Het
Poglut2 C A 1: 44,149,987 (GRCm39) E401* probably null Het
Ppp5c T G 7: 16,740,891 (GRCm39) D359A possibly damaging Het
Pvr C T 7: 19,643,139 (GRCm39) A365T possibly damaging Het
Pygm G T 19: 6,443,787 (GRCm39) G583C probably damaging Het
Rasa3 A T 8: 13,635,029 (GRCm39) L430Q probably damaging Het
Rims2 T G 15: 39,208,911 (GRCm39) V198G probably benign Het
Rnf38 C T 4: 44,149,224 (GRCm39) R41H probably damaging Het
Rptn G A 3: 93,305,558 (GRCm39) V964I probably benign Het
Rrp1b A G 17: 32,271,719 (GRCm39) D263G probably benign Het
Sgip1 T C 4: 102,819,573 (GRCm39) C560R probably damaging Het
Shisal2b T C 13: 105,000,214 (GRCm39) Q3R probably benign Het
Sidt1 A C 16: 44,065,706 (GRCm39) I734S probably null Het
Ssh1 G T 5: 114,080,636 (GRCm39) D931E probably damaging Het
Thumpd2 C A 17: 81,351,599 (GRCm39) R274I probably damaging Het
Tpi1 T C 6: 124,789,426 (GRCm39) D183G probably damaging Het
Trnt1 T A 6: 106,754,883 (GRCm39) Y205N probably damaging Het
Tsc22d2 G A 3: 58,324,235 (GRCm39) V376M probably damaging Het
Usp34 T C 11: 23,402,569 (GRCm39) V2454A possibly damaging Het
Uspl1 C A 5: 149,124,655 (GRCm39) S24Y probably damaging Het
Vmn1r58 A C 7: 5,413,451 (GRCm39) W260G possibly damaging Het
Vmn2r62 T A 7: 42,438,412 (GRCm39) L141F probably benign Het
Zfp868 A C 8: 70,064,230 (GRCm39) H368Q probably 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
R5404:Nfil3 UTSW 13 53,122,091 (GRCm39) missense probably damaging 1.00
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
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'- AGCCTTGGATGTCTGGTAGTCC -3'
(R):5'- GATGCTGCTGCTGAACTCTG -3'

Sequencing Primer
(F):5'- ATGTCTGGTAGTCCTGAAAGTAGAC -3'
(R):5'- GCTGCTGAACTCTGCCTTAG -3'
Posted On 2018-09-12