Incidental Mutation 'R1146:Ifnk'
ID 102408
Institutional Source Beutler Lab
Gene Symbol Ifnk
Ensembl Gene ENSMUSG00000042993
Gene Name interferon kappa
Synonyms
MMRRC Submission 039219-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1146 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 35152056-35154005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 35152231 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 53 (I53T)
Ref Sequence ENSEMBL: ENSMUSP00000054273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058595] [ENSMUST00000102975]
AlphaFold Q7TSL0
Predicted Effect probably benign
Transcript: ENSMUST00000058595
AA Change: I53T

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000054273
Gene: ENSMUSG00000042993
AA Change: I53T

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
IFabd 55 175 5.38e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102975
SMART Domains Protein: ENSMUSP00000100040
Gene: ENSMUSG00000073910

DomainStartEndE-ValueType
Mob1_phocein 33 207 1.93e-105 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155725
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.6%
  • 10x: 85.8%
  • 20x: 55.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type I interferon family. Type I interferons are a group of related glycoproteins that play an important role in host defenses against viral infections. This protein is expressed in keratinocytes and the gene is found on chromosome 9, adjacent to the type I interferon cluster. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,679,795 (GRCm39) V1848E probably damaging Het
Alpk3 A G 7: 80,727,343 (GRCm39) K158E probably damaging Het
Arrdc4 T A 7: 68,389,756 (GRCm39) E356D probably damaging Het
Asb4 A G 6: 5,423,591 (GRCm39) N246S probably damaging Het
Ctsj G A 13: 61,150,312 (GRCm39) P230L probably benign Het
Eme1 A G 11: 94,536,277 (GRCm39) L564P probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fzd2 A T 11: 102,496,206 (GRCm39) S217C possibly damaging Het
Gaa G T 11: 119,165,730 (GRCm39) R81L probably damaging Het
Gfral A G 9: 76,074,341 (GRCm39) V368A probably benign Het
Gm21738 T C 14: 19,415,963 (GRCm38) K192R probably benign Het
Gucy1a2 T A 9: 3,759,830 (GRCm39) N545K probably damaging Het
Herc2 T C 7: 55,796,444 (GRCm39) S1939P probably benign Het
Iqub G A 6: 24,505,627 (GRCm39) L94F possibly damaging Het
Kpna1 C T 16: 35,853,749 (GRCm39) R460* probably null Het
Masp1 T C 16: 23,310,865 (GRCm39) E189G probably damaging Het
Mogat1 A G 1: 78,500,250 (GRCm39) I105V probably benign Het
Msh2 C A 17: 87,987,488 (GRCm39) D209E probably benign Het
Nsf G A 11: 103,719,364 (GRCm39) T646I probably damaging Het
Or10g9b A T 9: 39,917,390 (GRCm39) V285D possibly damaging Het
Or4c10b C T 2: 89,711,550 (GRCm39) P127S probably damaging Het
Or5b24 T A 19: 12,912,329 (GRCm39) S76T possibly damaging Het
Or6b2 G A 1: 92,407,612 (GRCm39) H244Y probably damaging Het
Otogl T A 10: 107,722,374 (GRCm39) I327F probably damaging Het
Pappa2 T C 1: 158,682,552 (GRCm39) D832G probably damaging Het
Pfkfb4 A G 9: 108,836,794 (GRCm39) E163G probably benign Het
Phc1 T C 6: 122,300,416 (GRCm39) probably benign Het
Piwil1 T C 5: 128,824,957 (GRCm39) S552P probably benign Het
Ppfia3 A C 7: 45,001,639 (GRCm39) D424E probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rbsn A G 6: 92,178,711 (GRCm39) probably null Het
Rexo1 C T 10: 80,380,239 (GRCm39) S919N probably benign Het
Sec31a T C 5: 100,510,032 (GRCm39) N1152D probably damaging Het
Sel1l3 A T 5: 53,274,445 (GRCm39) F1012I possibly damaging Het
Sema4c A G 1: 36,589,646 (GRCm39) V539A probably benign Het
Sf3b5 A G 10: 12,884,575 (GRCm39) E70G possibly damaging Het
Tmcc2 TTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGC 1: 132,285,493 (GRCm39) probably benign Het
Tor1aip2 T C 1: 155,940,483 (GRCm39) V263A possibly damaging Het
Unc45b A G 11: 82,813,733 (GRCm39) E380G probably damaging Het
Usp16 C T 16: 87,271,536 (GRCm39) T364M possibly damaging Het
Usp50 T C 2: 126,551,392 (GRCm39) Y29C probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Wwox T C 8: 115,438,776 (GRCm39) S281P probably damaging Het
Zfp110 A G 7: 12,580,721 (GRCm39) probably null Het
Zfp335 G A 2: 164,738,043 (GRCm39) A856V probably benign Het
Zfp652 G A 11: 95,640,608 (GRCm39) E178K possibly damaging Het
Other mutations in Ifnk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Ifnk APN 4 35,152,642 (GRCm39) intron probably benign
IGL02952:Ifnk APN 4 35,152,495 (GRCm39) missense probably damaging 1.00
R0030:Ifnk UTSW 4 35,152,489 (GRCm39) missense probably benign 0.00
R1146:Ifnk UTSW 4 35,152,231 (GRCm39) missense probably benign 0.35
R6766:Ifnk UTSW 4 35,152,134 (GRCm39) missense possibly damaging 0.85
R8784:Ifnk UTSW 4 35,152,383 (GRCm39) missense probably damaging 1.00
R9020:Ifnk UTSW 4 35,152,573 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2014-01-15