Incidental Mutation 'R4441:Ilf2'
ID 329751
Institutional Source Beutler Lab
Gene Symbol Ilf2
Ensembl Gene ENSMUSG00000001016
Gene Name interleukin enhancer binding factor 2
Synonyms Tex261, 6230405A16Rik, TEG-267, Tex267
MMRRC Submission 041706-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4441 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 90383433-90395686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90394769 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 339 (L339P)
Ref Sequence ENSEMBL: ENSMUSP00000001042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001042] [ENSMUST00000149884] [ENSMUST00000184877] [ENSMUST00000185005]
AlphaFold Q9CXY6
PDB Structure Crystal structure of the NF90-NF45 dimerisation domain complex [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with ATP [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with UTP [X-RAY DIFFRACTION]
Crystal structure of the NF90-NF45 dimerisation domain complex with CTP [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000001042
AA Change: L339P

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000001042
Gene: ENSMUSG00000001016
AA Change: L339P

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
DZF 98 338 5.01e-142 SMART
low complexity region 353 390 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107352
Predicted Effect probably benign
Transcript: ENSMUST00000149884
SMART Domains Protein: ENSMUSP00000122090
Gene: ENSMUSG00000001018

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Pfam:Snapin_Pallidin 23 110 5.8e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184877
SMART Domains Protein: ENSMUSP00000139315
Gene: ENSMUSG00000001018

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000185005
SMART Domains Protein: ENSMUSP00000139160
Gene: ENSMUSG00000001018

DomainStartEndE-ValueType
low complexity region 2 19 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198641
Meta Mutation Damage Score 0.2451 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor required for T-cell expression of the interleukin 2 gene. It also binds RNA and is an essential component for encapsidation and protein priming of hepatitis B viral polymerase. The encoded 45 kDa protein (NF45, ILF2) forms a complex with the 90 kDa interleukin enhancer-binding factor 3 (NF90, ILF3), and this complex has been shown to affect the redistribution of nuclear mRNA to the cytoplasm, to repair DNA breaks by nonhomologous end joining, and to negatively regulate the microRNA processing pathway. Knockdown of NF45 or NF90 protein retards cell growth, possibly by inhibition of mRNA stabilization. Alternative splicing results in multiple transcript variants. Related pseudogenes have been found on chromosomes 3 and 14. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A T 7: 120,127,024 (GRCm39) R1238S probably benign Het
Ankmy1 A T 1: 92,816,383 (GRCm39) Y244N possibly damaging Het
Asxl3 C T 18: 22,657,290 (GRCm39) P1767S probably damaging Het
C1qtnf7 A T 5: 43,766,612 (GRCm39) K70N possibly damaging Het
Cibar1 A G 4: 12,157,733 (GRCm39) M261T probably damaging Het
Fam78b C A 1: 166,906,491 (GRCm39) Q217K probably damaging Het
Garem1 T C 18: 21,301,807 (GRCm39) T127A possibly damaging Het
Gls A T 1: 52,235,322 (GRCm39) probably null Het
Gm12790 A C 4: 101,825,337 (GRCm39) S26A probably damaging Het
Gm136 T C 4: 34,755,911 (GRCm39) D34G probably benign Het
Gmds A G 13: 32,124,461 (GRCm39) probably null Het
Hdac9 G T 12: 34,439,375 (GRCm39) H401N probably damaging Het
Hmcn1 T C 1: 150,533,210 (GRCm39) I3026V probably null Het
Igkv6-20 A T 6: 70,313,101 (GRCm39) M24K probably damaging Het
Insr T A 8: 3,244,902 (GRCm39) K501N probably benign Het
Lyst G A 13: 13,809,968 (GRCm39) R546H probably damaging Het
Mcm5 T C 8: 75,839,172 (GRCm39) S142P probably benign Het
Mcpt9 A G 14: 56,265,009 (GRCm39) V164A probably damaging Het
Ncapd3 T A 9: 26,962,941 (GRCm39) D415E possibly damaging Het
Nfia T C 4: 97,661,150 (GRCm39) probably null Het
Nipbl G C 15: 8,396,142 (GRCm39) Q144E probably damaging Het
Or51g1 A T 7: 102,633,516 (GRCm39) V285E possibly damaging Het
Or51q1c T G 7: 103,653,279 (GRCm39) F266V probably damaging Het
Or6z5 T C 7: 6,477,924 (GRCm39) S272P probably benign Het
Pcdhgb8 A G 18: 37,896,114 (GRCm39) I395V possibly damaging Het
Plcz1 T A 6: 139,936,413 (GRCm39) L605F probably benign Het
Prph G A 15: 98,955,005 (GRCm39) S325N probably damaging Het
Ptpn23 A G 9: 110,221,793 (GRCm39) M131T probably benign Het
Rab3ip T G 10: 116,751,837 (GRCm39) D278A probably benign Het
Rasgrf2 T C 13: 92,131,797 (GRCm39) D620G possibly damaging Het
Rbm5 A G 9: 107,626,887 (GRCm39) probably benign Het
Rc3h2 A G 2: 37,304,526 (GRCm39) probably null Het
Saxo5 C T 8: 3,526,105 (GRCm39) S86L probably damaging Het
Tbxa2r T C 10: 81,168,925 (GRCm39) S205P probably damaging Het
Tenm4 A G 7: 96,545,022 (GRCm39) N2375S probably benign Het
Tespa1 C T 10: 130,197,826 (GRCm39) R283C probably damaging Het
Tle2 A G 10: 81,417,516 (GRCm39) E227G possibly damaging Het
Tnik A G 3: 28,618,246 (GRCm39) I266V possibly damaging Het
Tnn T G 1: 159,943,650 (GRCm39) E1054D probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpm1 A G 7: 63,851,666 (GRCm39) D12G probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wdr7 T A 18: 63,888,281 (GRCm39) Y585N probably damaging Het
Zgrf1 T A 3: 127,379,786 (GRCm39) N223K possibly damaging Het
Other mutations in Ilf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01585:Ilf2 APN 3 90,391,849 (GRCm39) missense probably damaging 1.00
R0193:Ilf2 UTSW 3 90,388,646 (GRCm39) splice site probably null
R0746:Ilf2 UTSW 3 90,390,114 (GRCm39) missense probably damaging 1.00
R1888:Ilf2 UTSW 3 90,394,767 (GRCm39) unclassified probably benign
R3912:Ilf2 UTSW 3 90,394,367 (GRCm39) missense probably benign 0.07
R7957:Ilf2 UTSW 3 90,394,777 (GRCm39) nonsense probably null
R9001:Ilf2 UTSW 3 90,390,108 (GRCm39) missense probably benign 0.07
R9280:Ilf2 UTSW 3 90,394,922 (GRCm39) missense unknown
R9492:Ilf2 UTSW 3 90,394,570 (GRCm39) missense probably benign 0.00
X0011:Ilf2 UTSW 3 90,394,782 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCCCATGGAGGCTTTAGGAAG -3'
(R):5'- ATCTAAAGCCCCATGGTGGC -3'

Sequencing Primer
(F):5'- GGAAGATCCTTGGCCAGG -3'
(R):5'- CCCATGGTGGCTGGCTTAG -3'
Posted On 2015-07-21