Incidental Mutation 'R0746:Ilf2'
ID 70120
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 038927-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0746 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 90383433-90395686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90390114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 142 (V142D)
Ref Sequence ENSEMBL: ENSMUSP00000001042 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001042]
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 damaging
Transcript: ENSMUST00000001042
AA Change: V142D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000001042
Gene: ENSMUSG00000001016
AA Change: V142D

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: ENSMUST00000196769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197644
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198325
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198641
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198738
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.3%
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik T C 17: 79,935,715 (GRCm39) probably benign Het
Acvr1 T C 2: 58,390,562 (GRCm39) M1V probably null Het
Adamts10 T A 17: 33,768,521 (GRCm39) C866* probably null Het
Adgrv1 G A 13: 81,718,675 (GRCm39) P4S probably benign Het
Arhgef37 A G 18: 61,651,064 (GRCm39) probably null Het
Arid4b A G 13: 14,317,623 (GRCm39) T169A probably benign Het
Bltp3b T A 10: 89,641,316 (GRCm39) I829K probably benign Het
Cabp7 A T 11: 4,688,900 (GRCm39) I190N probably damaging Het
Capn13 A C 17: 73,658,503 (GRCm39) D188E probably benign Het
Ces1d A G 8: 93,916,096 (GRCm39) F177S probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Csmd2 T A 4: 128,308,090 (GRCm39) C1283S probably damaging Het
Cul1 T C 6: 47,495,222 (GRCm39) probably null Het
F7 T G 8: 13,084,740 (GRCm39) S255R probably benign Het
Fanci T A 7: 79,089,429 (GRCm39) I955N probably damaging Het
Focad C A 4: 88,315,451 (GRCm39) D1536E possibly damaging Het
Fus A G 7: 127,584,596 (GRCm39) probably benign Het
Gpr146 C T 5: 139,378,977 (GRCm39) R260W probably damaging Het
Grid1 T C 14: 34,544,647 (GRCm39) F73L possibly damaging Het
Kcna2 A G 3: 107,012,484 (GRCm39) D355G probably benign Het
Mgat4c T C 10: 102,224,548 (GRCm39) F254S probably damaging Het
Mrps10 A C 17: 47,683,564 (GRCm39) R139S probably benign Het
Myh2 A G 11: 67,064,257 (GRCm39) T71A probably benign Het
Myo1d A C 11: 80,477,705 (GRCm39) Y893D possibly damaging Het
Ncapd2 T C 6: 125,151,227 (GRCm39) E760G possibly damaging Het
Or10ab5 A T 7: 108,245,248 (GRCm39) D178E probably damaging Het
Or11h6 T A 14: 50,880,232 (GRCm39) probably null Het
Pkhd1 T A 1: 20,268,331 (GRCm39) D3349V probably damaging Het
Ptprn2 A C 12: 116,864,637 (GRCm39) M551L probably benign Het
Ptprq A G 10: 107,353,692 (GRCm39) Y2275H probably damaging Het
Rfx7 A G 9: 72,526,388 (GRCm39) T1193A probably benign Het
Rtl1 T C 12: 109,559,394 (GRCm39) D815G probably damaging Het
Scn1a T A 2: 66,181,470 (GRCm39) T18S probably benign Het
Septin5 T C 16: 18,441,975 (GRCm39) H277R probably damaging Het
Sh3bp5l A G 11: 58,237,173 (GRCm39) S377G probably benign Het
Snx2 T A 18: 53,330,961 (GRCm39) I142K possibly damaging Het
Spata31d1a C A 13: 59,850,077 (GRCm39) D684Y possibly damaging Het
Taar6 C A 10: 23,861,258 (GRCm39) S96I probably benign Het
Thsd7b C A 1: 130,116,268 (GRCm39) H1340Q probably benign Het
Tmem115 C T 9: 107,415,198 (GRCm39) T329M probably benign Het
Tmem50b C T 16: 91,378,578 (GRCm39) probably null Het
Wdr64 A T 1: 175,620,539 (GRCm39) D316V possibly damaging Het
Yars1 C A 4: 129,091,079 (GRCm39) S162R probably 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
R1888:Ilf2 UTSW 3 90,394,767 (GRCm39) unclassified probably benign
R3912:Ilf2 UTSW 3 90,394,367 (GRCm39) missense probably benign 0.07
R4441:Ilf2 UTSW 3 90,394,769 (GRCm39) missense probably benign 0.18
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'- TCTGAGTCATTCAAATTCTGTCCAGGC -3'
(R):5'- CTGAATACCGGAGAGACTCCTGCTAAC -3'

Sequencing Primer
(F):5'- gagcactgactgctcttcc -3'
(R):5'- GAGACTCCTGCTAACCCCTAAC -3'
Posted On 2013-09-30