Incidental Mutation 'IGL02952:Ifnk'
ID 364956
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifnk
Ensembl Gene ENSMUSG00000042993
Gene Name interferon kappa
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02952
Quality Score
Status
Chromosome 4
Chromosomal Location 35152056-35154005 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 35152495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 141 (L141Q)
Ref Sequence ENSEMBL: ENSMUSP00000054273 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058595] [ENSMUST00000102975]
AlphaFold Q7TSL0
Predicted Effect probably damaging
Transcript: ENSMUST00000058595
AA Change: L141Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054273
Gene: ENSMUSG00000042993
AA Change: L141Q

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
Coding Region Coverage
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A T 6: 121,654,984 (GRCm39) D1436V probably damaging Het
Abca7 G T 10: 79,843,242 (GRCm39) R1239L probably damaging Het
Acp2 T C 2: 91,038,788 (GRCm39) probably benign Het
Adamts4 A G 1: 171,078,917 (GRCm39) N179S probably damaging Het
Adgrv1 T C 13: 81,581,755 (GRCm39) D4763G probably benign Het
Atp11b T C 3: 35,882,844 (GRCm39) V633A probably damaging Het
Cadm2 A T 16: 66,461,338 (GRCm39) I342K probably damaging Het
Capn10 T C 1: 92,872,896 (GRCm39) S541P probably damaging Het
Ccnf A G 17: 24,450,299 (GRCm39) L462P possibly damaging Het
Cdc27 T C 11: 104,408,290 (GRCm39) Y546C probably damaging Het
Cep120 G T 18: 53,816,300 (GRCm39) probably benign Het
Cetn2 T C X: 71,957,808 (GRCm39) probably null Het
Cyp1a1 C T 9: 57,609,993 (GRCm39) S469L probably benign Het
Dnah17 G A 11: 117,979,094 (GRCm39) T1766I probably benign Het
Doc2g G A 19: 4,056,719 (GRCm39) G345D possibly damaging Het
Dock4 T C 12: 40,760,902 (GRCm39) probably null Het
Dop1a T A 9: 86,414,975 (GRCm39) probably benign Het
Emilin2 C A 17: 71,587,816 (GRCm39) V99F probably damaging Het
Exoc8 A G 8: 125,624,275 (GRCm39) S31P probably benign Het
Gask1b T C 3: 79,793,646 (GRCm39) L38P probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Gm9742 T A 13: 8,079,930 (GRCm39) noncoding transcript Het
Gpr160 T C 3: 30,950,443 (GRCm39) Y172H probably benign Het
Klhl36 A G 8: 120,597,223 (GRCm39) E308G probably benign Het
Lrp1b T C 2: 41,396,715 (GRCm39) I450M probably benign Het
Noxa1 T C 2: 24,981,773 (GRCm39) Y110C probably damaging Het
Or10ad1 T C 15: 98,105,470 (GRCm39) Y265C probably damaging Het
Pkd2 A T 5: 104,628,026 (GRCm39) T367S possibly damaging Het
Polg2 T C 11: 106,663,539 (GRCm39) I385V possibly damaging Het
Ppp1r14bl A T 1: 23,141,071 (GRCm39) I81N probably damaging Het
Prr14l A G 5: 32,993,014 (GRCm39) S17P unknown Het
Prss22 C A 17: 24,215,697 (GRCm39) C75F probably damaging Het
Ptgs1 A G 2: 36,141,253 (GRCm39) K567E probably benign Het
Ptprz1 A G 6: 23,036,925 (GRCm39) I1141M probably damaging Het
R3hcc1l A G 19: 42,552,433 (GRCm39) K477E probably damaging Het
Riok1 A G 13: 38,232,866 (GRCm39) Y194C probably damaging Het
Smr2 T A 5: 88,236,095 (GRCm39) C16S possibly damaging Het
Stk25 A T 1: 93,553,798 (GRCm39) I187N probably damaging Het
Trhde T C 10: 114,636,478 (GRCm39) E243G probably damaging Het
Vmn2r3 T C 3: 64,186,256 (GRCm39) E143G probably damaging Het
Other mutations in Ifnk
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02227:Ifnk APN 4 35,152,642 (GRCm39) intron probably benign
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
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
Posted On 2015-12-18