Incidental Mutation 'IGL01585:Ilf2'
ID 93331
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ilf2
Ensembl Gene ENSMUSG00000001016
Gene Name interleukin enhancer binding factor 2
Synonyms Tex261, 6230405A16Rik, TEG-267, Tex267
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01585
Quality Score
Status
Chromosome 3
Chromosomal Location 90383433-90395686 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90391849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 183 (N183K)
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 damaging
Transcript: ENSMUST00000001042
AA Change: N183K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001042
Gene: ENSMUSG00000001016
AA Change: N183K

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: ENSMUST00000198738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000198641
Coding Region Coverage
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,359,045 (GRCm39) D587G probably benign Het
Adcy1 T A 11: 7,117,143 (GRCm39) N1003K probably damaging Het
Alpk1 T C 3: 127,473,462 (GRCm39) D847G probably benign Het
Atp5f1a T C 18: 77,868,758 (GRCm39) V417A possibly damaging Het
Avp A C 2: 130,422,629 (GRCm39) S159A probably benign Het
Brca2 C A 5: 150,462,981 (GRCm39) A915D possibly damaging Het
Cdc42bpg G A 19: 6,370,462 (GRCm39) R1185H possibly damaging Het
Cdcp3 T G 7: 130,846,487 (GRCm39) V637G probably damaging Het
Clrn2 A G 5: 45,617,500 (GRCm39) I124V probably benign Het
Cntn4 A T 6: 106,595,289 (GRCm39) K469* probably null Het
Cxcl1 T A 5: 91,039,583 (GRCm39) N70K probably damaging Het
Dbf4 A G 5: 8,458,492 (GRCm39) probably null Het
Fbn1 A T 2: 125,202,030 (GRCm39) V1281E probably damaging Het
Fgfr3 A T 5: 33,891,305 (GRCm39) Q523L probably damaging Het
Golga5 A G 12: 102,445,954 (GRCm39) K403R probably benign Het
Gpr22 A G 12: 31,759,336 (GRCm39) I262T probably benign Het
Gstm3 G T 3: 107,873,474 (GRCm39) Q166K probably benign Het
Ip6k2 T A 9: 108,673,512 (GRCm39) L40Q probably damaging Het
Itga8 A T 2: 12,165,123 (GRCm39) probably benign Het
Lbr T A 1: 181,653,208 (GRCm39) R70* probably null Het
Lilra6 T C 7: 3,917,498 (GRCm39) T166A probably benign Het
Map3k4 T C 17: 12,467,846 (GRCm39) K1063E probably damaging Het
Msi1 T C 5: 115,568,949 (GRCm39) probably null Het
Pam A G 1: 97,792,197 (GRCm39) V408A probably damaging Het
Plxna1 A G 6: 89,306,538 (GRCm39) probably null Het
Ppp1r36 A T 12: 76,485,891 (GRCm39) probably null Het
Prrt4 A G 6: 29,177,689 (GRCm39) S27P probably benign Het
Psmg1 G A 16: 95,789,221 (GRCm39) T112I possibly damaging Het
Rfx7 T G 9: 72,524,343 (GRCm39) I511S probably benign Het
Ros1 G A 10: 52,031,198 (GRCm39) T481M probably damaging Het
Scfd1 A G 12: 51,462,336 (GRCm39) D397G probably damaging Het
Sel1l3 A G 5: 53,311,578 (GRCm39) Y636H probably damaging Het
Sgms1 T G 19: 32,120,245 (GRCm39) R220S probably damaging Het
Slc37a3 A T 6: 39,314,196 (GRCm39) I472N probably damaging Het
Syne2 A G 12: 75,995,834 (GRCm39) probably null Het
Tert T C 13: 73,782,463 (GRCm39) V579A probably benign Het
Ush2a A T 1: 188,162,924 (GRCm39) H1002L probably damaging Het
Other mutations in Ilf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-12-09