Incidental Mutation 'R8394:Nfil3'
ID 647538
Institutional Source Beutler Lab
Gene Symbol Nfil3
Ensembl Gene ENSMUSG00000056749
Gene Name nuclear factor, interleukin 3, regulated
Synonyms E4BP4
MMRRC Submission 067758-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8394 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 53121245-53135109 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53121849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 352 (S352P)
Ref Sequence ENSEMBL: ENSMUSP00000065363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071065]
AlphaFold O08750
Predicted Effect probably benign
Transcript: ENSMUST00000071065
AA Change: S352P

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000065363
Gene: ENSMUSG00000056749
AA Change: S352P

DomainStartEndE-ValueType
BRLZ 71 135 2.84e-5 SMART
low complexity region 182 196 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik T C 14: 59,379,623 (GRCm39) N137S probably benign Het
4930505A04Rik T A 11: 30,404,880 (GRCm39) probably null Het
Abcc8 A G 7: 45,803,977 (GRCm39) I399T probably benign Het
Aldh3b2 A C 19: 4,029,461 (GRCm39) Q278P probably benign Het
Arl8b A G 6: 108,760,244 (GRCm39) D10G possibly damaging Het
Baiap3 T C 17: 25,469,096 (GRCm39) N229S probably benign Het
Chrdl2 T C 7: 99,666,292 (GRCm39) S71P possibly damaging Het
Cmbl A G 15: 31,585,541 (GRCm39) M142V possibly damaging Het
Cpt1b A G 15: 89,306,490 (GRCm39) probably null Het
Crybg3 T C 16: 59,378,651 (GRCm39) K868E probably benign Het
Efl1 A G 7: 82,411,986 (GRCm39) I792V probably benign Het
Evx2 A G 2: 74,486,321 (GRCm39) L356S probably benign Het
Hspa14 C T 2: 3,513,670 (GRCm39) probably null Het
Ighv5-8 C T 12: 113,618,813 (GRCm39) A76V unknown Het
Il7r A G 15: 9,516,504 (GRCm39) F99S probably damaging Het
Klra2 A T 6: 131,222,273 (GRCm39) V6D possibly damaging Het
Lce3c T C 3: 92,852,760 (GRCm39) S74P unknown Het
Nectin2 C T 7: 19,467,137 (GRCm39) probably null Het
Nme6 T A 9: 109,664,394 (GRCm39) M1K probably null Het
Or52z13 A T 7: 103,247,404 (GRCm39) I294F probably damaging Het
Otogl A G 10: 107,722,326 (GRCm39) probably null Het
Plcb1 T C 2: 135,159,710 (GRCm39) V391A probably damaging Het
Ptf1a T A 2: 19,450,746 (GRCm39) D25E probably damaging Het
Ralbp1 C T 17: 66,159,748 (GRCm39) R505H probably benign Het
Scube1 T C 15: 83,492,492 (GRCm39) Y944C probably damaging Het
Sdk2 A G 11: 113,729,542 (GRCm39) I1039T probably benign Het
Senp7 G T 16: 55,990,190 (GRCm39) W646L possibly damaging Het
Sphkap A T 1: 83,253,797 (GRCm39) N1317K probably benign Het
Strc G T 2: 121,209,490 (GRCm39) Q278K probably benign Het
Tbc1d30 T A 10: 121,183,013 (GRCm39) R142* probably null Het
Tmtc3 T C 10: 100,282,808 (GRCm39) I916V probably damaging Het
Tomm40l A T 1: 171,048,776 (GRCm39) H79Q probably damaging Het
Txndc12 T A 4: 108,713,420 (GRCm39) probably null Het
Vmn2r2 T C 3: 64,044,858 (GRCm39) N96S probably damaging Het
Vmn2r27 T C 6: 124,168,776 (GRCm39) T785A possibly damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp462 A G 4: 55,011,862 (GRCm39) D1276G 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
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
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'- AGCTTCGGAAACCTTATAGCCAC -3'
(R):5'- TAAGGGCCCCATCCATTCTC -3'

Sequencing Primer
(F):5'- ACACCTGTTTTGAAGCTACTCTGAG -3'
(R):5'- TCCAGTGGAGCTGCAACG -3'
Posted On 2020-09-02