Incidental Mutation 'R9001:Ilf2'
ID 684955
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 068832-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9001 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 90383433-90395686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 90390108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 140 (N140S)
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 benign
Transcript: ENSMUST00000001042
AA Change: N140S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000001042
Gene: ENSMUSG00000001016
AA Change: N140S

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (51/51)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik T C 12: 110,637,176 (GRCm39) R26G probably damaging Het
Aldh1a2 A G 9: 71,192,462 (GRCm39) N439S probably damaging Het
Arfgef3 C T 10: 18,522,476 (GRCm39) E517K probably benign Het
Arhgap29 A T 3: 121,775,523 (GRCm39) I89L probably benign Het
Btbd3 G A 2: 138,122,296 (GRCm39) V149I possibly damaging Het
Chst5 T A 8: 112,616,534 (GRCm39) H362L probably benign Het
Cmtm2a A G 8: 105,019,376 (GRCm39) V71A probably benign Het
Col6a4 T A 9: 105,944,370 (GRCm39) I1035F probably benign Het
Csmd2 T C 4: 128,308,079 (GRCm39) V1279A Het
Csmd3 A T 15: 47,596,901 (GRCm39) V1068E Het
Ddx50 T C 10: 62,475,728 (GRCm39) Y331C probably benign Het
Dhx30 A G 9: 109,916,623 (GRCm39) Y631H probably damaging Het
Dnah10 G A 5: 124,852,515 (GRCm39) G1915S probably damaging Het
Dop1a A G 9: 86,436,374 (GRCm39) *2463W probably null Het
Dst G T 1: 34,213,292 (GRCm39) V1395F possibly damaging Het
Dzip1l T C 9: 99,523,907 (GRCm39) probably null Het
Eef1akmt3 T C 10: 126,877,232 (GRCm39) E11G probably benign Het
Elfn2 A G 15: 78,557,438 (GRCm39) F370L probably benign Het
Enam T A 5: 88,637,388 (GRCm39) F104Y probably benign Het
Esd A G 14: 74,983,123 (GRCm39) E258G probably benign Het
Fam181b G A 7: 92,730,356 (GRCm39) A377T unknown Het
Gabrr3 A G 16: 59,282,008 (GRCm39) I454M probably benign Het
Ggt5 T A 10: 75,445,992 (GRCm39) V462D probably benign Het
Gm3250 T C 10: 77,618,178 (GRCm39) S67G unknown Het
Grn A T 11: 102,327,497 (GRCm39) Y286F Het
Gulp1 A G 1: 44,827,709 (GRCm39) I284V probably benign Het
Ints4 C A 7: 97,190,276 (GRCm39) P925Q possibly damaging Het
Khdc1b A G 1: 21,454,560 (GRCm39) N88D possibly damaging Het
Kif15 T G 9: 122,826,855 (GRCm39) C798G probably benign Het
Ktn1 T A 14: 47,910,409 (GRCm39) V285E probably damaging Het
Lrif1 A G 3: 106,641,860 (GRCm39) S59G probably benign Het
Mpdz A G 4: 81,299,999 (GRCm39) M333T probably benign Het
Mrm3 A G 11: 76,141,234 (GRCm39) D414G probably benign Het
Msantd5f3 A T 4: 73,575,280 (GRCm39) R320* probably null Het
Mtpap A G 18: 4,380,831 (GRCm39) N170D probably benign Het
Nelfb C A 2: 25,096,287 (GRCm39) R274L probably damaging Het
Or56a3b T G 7: 104,771,447 (GRCm39) V261G probably damaging Het
Pkm A G 9: 59,572,626 (GRCm39) N44S probably benign Het
Rel T C 11: 23,698,855 (GRCm39) D144G probably damaging Het
Scgb2b21 A T 7: 33,218,956 (GRCm39) probably benign Het
Serpinb1b T A 13: 33,277,743 (GRCm39) D325E probably benign Het
Slco4c1 A G 1: 96,748,956 (GRCm39) C654R probably damaging Het
Srgap2 T C 1: 131,291,798 (GRCm39) K143R probably damaging Het
Szt2 G A 4: 118,235,529 (GRCm39) H2034Y unknown Het
Thbs2 T C 17: 14,889,007 (GRCm39) D1164G probably damaging Het
Tnfrsf10b T C 14: 70,015,250 (GRCm39) S243P possibly damaging Het
Tnxb T A 17: 34,922,410 (GRCm39) S2408T probably benign Het
Topors A T 4: 40,261,696 (GRCm39) D529E possibly damaging Het
Trmt5 T C 12: 73,331,643 (GRCm39) M138V probably benign Het
Vmn2r81 A G 10: 79,104,104 (GRCm39) I242M possibly damaging Het
Zfp523 A G 17: 28,408,915 (GRCm39) Q21R possibly damaging Het
Zfp646 T A 7: 127,478,856 (GRCm39) N344K 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
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
R4441:Ilf2 UTSW 3 90,394,769 (GRCm39) missense probably benign 0.18
R7957:Ilf2 UTSW 3 90,394,777 (GRCm39) nonsense probably null
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'- TCTGTGGGGTAGAAATAGAGATGCT -3'
(R):5'- CAGCATTCAAGAGTTCAGTGG -3'

Sequencing Primer
(F):5'- TCCAGAGGTCCTGAGTTCAAATC -3'
(R):5'- AAGAGTTCAGTGGTGCATCCCTATC -3'
Posted On 2021-10-11