Incidental Mutation 'R1889:Ilf3'
ID 209835
Institutional Source Beutler Lab
Gene Symbol Ilf3
Ensembl Gene ENSMUSG00000032178
Gene Name interleukin enhancer binding factor 3
Synonyms NF90
MMRRC Submission 039910-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1889 (G1)
Quality Score 174
Status Validated
Chromosome 9
Chromosomal Location 21279167-21316657 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 21316063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000149155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067646] [ENSMUST00000115414] [ENSMUST00000213518] [ENSMUST00000213603] [ENSMUST00000214758] [ENSMUST00000217348] [ENSMUST00000216892]
AlphaFold Q9Z1X4
Predicted Effect unknown
Transcript: ENSMUST00000067646
AA Change: Y878N
SMART Domains Protein: ENSMUSP00000065770
Gene: ENSMUSG00000032178
AA Change: Y878N

DomainStartEndE-ValueType
DZF 88 342 3.87e-166 SMART
low complexity region 375 396 N/A INTRINSIC
DSRM 402 466 2.2e-16 SMART
low complexity region 490 508 N/A INTRINSIC
DSRM 525 589 2.73e-21 SMART
low complexity region 638 688 N/A INTRINSIC
low complexity region 691 725 N/A INTRINSIC
low complexity region 745 769 N/A INTRINSIC
low complexity region 777 807 N/A INTRINSIC
low complexity region 810 886 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115414
SMART Domains Protein: ENSMUSP00000111074
Gene: ENSMUSG00000032178

DomainStartEndE-ValueType
DZF 88 342 3.87e-166 SMART
low complexity region 375 396 N/A INTRINSIC
DSRM 402 466 2.2e-16 SMART
low complexity region 490 508 N/A INTRINSIC
DSRM 525 589 2.73e-21 SMART
low complexity region 638 688 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181812
Predicted Effect unknown
Transcript: ENSMUST00000213518
AA Change: Y888N
Predicted Effect unknown
Transcript: ENSMUST00000213603
AA Change: Y891N
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214200
Predicted Effect unknown
Transcript: ENSMUST00000214758
AA Change: Y891N
Predicted Effect probably benign
Transcript: ENSMUST00000217348
Predicted Effect probably benign
Transcript: ENSMUST00000216892
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215438
Predicted Effect probably benign
Transcript: ENSMUST00000215169
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214217
Meta Mutation Damage Score 0.0703 question?
Coding Region Coverage
  • 1x: 97.1%
  • 3x: 96.2%
  • 10x: 93.6%
  • 20x: 88.0%
Validation Efficiency 97% (103/106)
MGI Phenotype FUNCTION: The protein encoded by this gene contains two double-stranded RNA binding domains and functions in the post-transcriptional regulation of gene expression. It is a component of an RNA-protein complex that may be involved in mediating the export of messenger RNAs. Alternative splicing results in multiple transcript variants encoding distinct isoforms. These isoforms are grouped into two categories, NFAR-1 or NFAR-2, based on variation at the C-terminus. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are born small and weak, show tachypnea and multi-organ apoptosis, and die neonatally due to neuromuscular respiratory failure. The diaphragm and other skeletal muscles show disorganization and paucity of myofibers,myocyte degeneration and elevated apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik A G 9: 89,034,815 (GRCm39) noncoding transcript Het
9130008F23Rik T C 17: 41,191,193 (GRCm39) R79G probably damaging Het
Aco1 A T 4: 40,164,607 (GRCm39) probably null Het
Acp6 C T 3: 97,073,201 (GRCm39) R81W probably damaging Het
Agbl1 A C 7: 76,239,129 (GRCm39) Y543S probably damaging Het
Anapc7 T C 5: 122,571,539 (GRCm39) W205R probably damaging Het
Ap1g2 T A 14: 55,338,886 (GRCm39) M532L probably damaging Het
Appl1 A G 14: 26,647,470 (GRCm39) probably benign Het
Arhgef19 T C 4: 140,976,624 (GRCm39) F462S probably damaging Het
Astn1 A G 1: 158,332,886 (GRCm39) probably null Het
AU015836 T C X: 93,012,985 (GRCm39) probably benign Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cadm2 T C 16: 66,679,683 (GRCm39) D50G probably damaging Het
Ccdc81 G A 7: 89,531,502 (GRCm39) Q324* probably null Het
Cd300lf A G 11: 115,011,206 (GRCm39) V178A probably benign Het
Cdt1 T C 8: 123,298,791 (GRCm39) V476A possibly damaging Het
Cenpj A G 14: 56,796,182 (GRCm39) V225A probably benign Het
Cep295 T C 9: 15,243,399 (GRCm39) T1686A possibly damaging Het
Cfap54 A G 10: 92,870,572 (GRCm39) S684P possibly damaging Het
Clip1 C A 5: 123,791,559 (GRCm39) V204F probably damaging Het
Cnpy4 A G 5: 138,191,102 (GRCm39) E226G probably benign Het
Col6a3 T A 1: 90,731,433 (GRCm39) M1000L probably benign Het
Cpsf1 T C 15: 76,486,356 (GRCm39) M335V probably benign Het
Dnmt3b C A 2: 153,518,679 (GRCm39) A614E probably benign Het
Dpm1 C T 2: 168,059,655 (GRCm39) R147Q possibly damaging Het
Dpp7 G T 2: 25,243,691 (GRCm39) probably null Het
Engase T C 11: 118,369,759 (GRCm39) F57S probably damaging Het
Epb41l5 T C 1: 119,476,902 (GRCm39) D718G possibly damaging Het
Fam20a T C 11: 109,564,380 (GRCm39) K458E probably benign Het
Fbxo44 C G 4: 148,240,726 (GRCm39) R220S probably damaging Het
Gkn2 T A 6: 87,355,137 (GRCm39) Y115* probably null Het
Gtdc1 A G 2: 44,481,926 (GRCm39) S246P probably damaging Het
H2-Q2 A G 17: 35,564,152 (GRCm39) D302G probably benign Het
Herc2 C T 7: 55,839,561 (GRCm39) S3357L possibly damaging Het
Herc6 T A 6: 57,639,060 (GRCm39) Y840* probably null Het
Hoxa10 GGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTG 6: 52,211,472 (GRCm39) probably benign Het
Ift122 T C 6: 115,871,382 (GRCm39) probably null Het
Itgb2 A T 10: 77,384,457 (GRCm39) N193Y possibly damaging Het
Itgb5 T G 16: 33,730,839 (GRCm39) I65S probably damaging Het
Jpt2 T C 17: 25,179,585 (GRCm39) M1V probably null Het
Kcnt2 A T 1: 140,512,031 (GRCm39) H995L probably damaging Het
Kif20b T C 19: 34,918,608 (GRCm39) probably benign Het
Kif7 T C 7: 79,360,211 (GRCm39) Y342C probably damaging Het
Klhl21 T C 4: 152,099,877 (GRCm39) V529A possibly damaging Het
Klhl26 T C 8: 70,904,383 (GRCm39) D475G probably damaging Het
Lcor T C 19: 41,547,567 (GRCm39) Y384H probably damaging Het
Lrp1b A T 2: 40,809,179 (GRCm39) C2463* probably null Het
Marchf6 T C 15: 31,459,339 (GRCm39) E909G possibly damaging Het
Mrc1 A T 2: 14,313,488 (GRCm39) probably null Het
Mtrex T C 13: 113,024,024 (GRCm39) N707S probably benign Het
Nipal4 T A 11: 46,041,560 (GRCm39) I212F probably damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Nwd2 A G 5: 63,965,009 (GRCm39) E1531G possibly damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Oosp1 C T 19: 11,645,158 (GRCm39) V169I possibly damaging Het
Opa1 T C 16: 29,444,403 (GRCm39) V863A possibly damaging Het
Or5ac22 T G 16: 59,135,326 (GRCm39) Y148S probably damaging Het
Pabpc4l A T 3: 46,400,798 (GRCm39) M282K probably benign Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Pcnx3 T C 19: 5,722,684 (GRCm39) D1336G probably damaging Het
Phlpp1 T C 1: 106,246,580 (GRCm39) V590A possibly damaging Het
Rbck1 T A 2: 152,160,276 (GRCm39) T468S probably damaging Het
Ripor2 T A 13: 24,877,870 (GRCm39) I290N probably damaging Het
Rnf139 T C 15: 58,771,346 (GRCm39) L457P probably damaging Het
Rtn1 C A 12: 72,351,184 (GRCm39) A342S possibly damaging Het
Sema3d A G 5: 12,534,988 (GRCm39) probably null Het
Serpinb2 T A 1: 107,452,337 (GRCm39) V305D probably damaging Het
Sez6l2 T C 7: 126,552,668 (GRCm39) V148A probably damaging Het
Shank2 C A 7: 143,740,595 (GRCm39) S568* probably null Het
Slc10a4 T C 5: 73,169,490 (GRCm39) S372P possibly damaging Het
Slc10a5 T C 3: 10,400,550 (GRCm39) T37A probably benign Het
Slc14a1 T C 18: 78,152,912 (GRCm39) I276V possibly damaging Het
Slc6a20b G T 9: 123,461,269 (GRCm39) D52E probably benign Het
Slc6a5 T C 7: 49,601,182 (GRCm39) M661T probably benign Het
Ssh2 C G 11: 77,340,571 (GRCm39) D574E probably damaging Het
Steap4 G T 5: 8,025,892 (GRCm39) R151L probably damaging Het
Sun5 T A 2: 153,707,915 (GRCm39) I107L probably benign Het
Tacc1 C T 8: 25,665,269 (GRCm39) V488M probably damaging Het
Tgs1 A G 4: 3,614,928 (GRCm39) T829A probably benign Het
Tnxb A G 17: 34,914,799 (GRCm39) E1929G probably damaging Het
Tssc4 A C 7: 142,624,292 (GRCm39) Q200P probably damaging Het
Ttn A G 2: 76,588,876 (GRCm39) W21398R probably damaging Het
Usp50 C T 2: 126,619,818 (GRCm39) probably null Het
Usp9y A T Y: 1,448,829 (GRCm39) probably null Het
V1rd19 T A 7: 23,702,632 (GRCm39) F33I probably benign Het
Zfat T C 15: 67,973,388 (GRCm39) T1118A probably benign Het
Other mutations in Ilf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00952:Ilf3 APN 9 21,307,347 (GRCm39) missense probably damaging 1.00
IGL01013:Ilf3 APN 9 21,310,987 (GRCm39) missense possibly damaging 0.91
IGL01352:Ilf3 APN 9 21,303,618 (GRCm39) missense possibly damaging 0.89
IGL01975:Ilf3 APN 9 21,303,675 (GRCm39) missense probably benign 0.03
IGL02826:Ilf3 APN 9 21,309,340 (GRCm39) missense probably benign 0.20
IGL03238:Ilf3 APN 9 21,303,646 (GRCm39) missense probably damaging 1.00
PIT4466001:Ilf3 UTSW 9 21,314,662 (GRCm39) missense unknown
R0047:Ilf3 UTSW 9 21,300,010 (GRCm39) missense possibly damaging 0.76
R0047:Ilf3 UTSW 9 21,300,010 (GRCm39) missense possibly damaging 0.76
R0090:Ilf3 UTSW 9 21,306,710 (GRCm39) missense probably damaging 1.00
R0355:Ilf3 UTSW 9 21,309,266 (GRCm39) missense probably damaging 1.00
R1768:Ilf3 UTSW 9 21,314,438 (GRCm39) unclassified probably benign
R1895:Ilf3 UTSW 9 21,316,063 (GRCm39) unclassified probably benign
R1918:Ilf3 UTSW 9 21,305,010 (GRCm39) missense probably damaging 1.00
R2930:Ilf3 UTSW 9 21,310,886 (GRCm39) missense possibly damaging 0.91
R3912:Ilf3 UTSW 9 21,309,422 (GRCm39) missense possibly damaging 0.77
R3913:Ilf3 UTSW 9 21,309,422 (GRCm39) missense possibly damaging 0.77
R4080:Ilf3 UTSW 9 21,314,430 (GRCm39) critical splice acceptor site probably null
R4412:Ilf3 UTSW 9 21,310,856 (GRCm39) missense possibly damaging 0.77
R4510:Ilf3 UTSW 9 21,310,511 (GRCm39) missense possibly damaging 0.95
R4511:Ilf3 UTSW 9 21,310,511 (GRCm39) missense possibly damaging 0.95
R5201:Ilf3 UTSW 9 21,300,679 (GRCm39) missense probably damaging 1.00
R5785:Ilf3 UTSW 9 21,306,168 (GRCm39) missense probably damaging 1.00
R6303:Ilf3 UTSW 9 21,314,432 (GRCm39) unclassified probably benign
R6406:Ilf3 UTSW 9 21,307,540 (GRCm39) missense probably damaging 0.99
R6434:Ilf3 UTSW 9 21,314,447 (GRCm39) unclassified probably benign
R7169:Ilf3 UTSW 9 21,306,722 (GRCm39) missense probably damaging 0.96
R7410:Ilf3 UTSW 9 21,311,100 (GRCm39) missense unknown
R7468:Ilf3 UTSW 9 21,314,707 (GRCm39) missense unknown
R7624:Ilf3 UTSW 9 21,309,340 (GRCm39) missense probably benign 0.20
R7720:Ilf3 UTSW 9 21,310,833 (GRCm39) missense possibly damaging 0.51
R8513:Ilf3 UTSW 9 21,299,932 (GRCm39) missense possibly damaging 0.92
R9056:Ilf3 UTSW 9 21,314,434 (GRCm39) nonsense probably null
R9317:Ilf3 UTSW 9 21,307,422 (GRCm39) missense probably damaging 1.00
R9522:Ilf3 UTSW 9 21,305,533 (GRCm39) missense probably benign 0.02
X0066:Ilf3 UTSW 9 21,303,702 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTGACATCAGCCCCTAGAG -3'
(R):5'- GTGGCAATGTCAGCAACGTG -3'

Sequencing Primer
(F):5'- ATCAGCCCCTAGAGGCTTGTC -3'
(R):5'- TGTCAGCAACGTGGACGG -3'
Posted On 2014-06-30