Incidental Mutation 'IGL02590:Il15'
ID299688
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il15
Ensembl Gene ENSMUSG00000031712
Gene Nameinterleukin 15
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02590
Quality Score
Status
Chromosome8
Chromosomal Location82331632-82403222 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82343283 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 51 (I51V)
Ref Sequence ENSEMBL: ENSMUSP00000148256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034148] [ENSMUST00000209363] [ENSMUST00000209573] [ENSMUST00000210094] [ENSMUST00000211565]
Predicted Effect probably benign
Transcript: ENSMUST00000034148
AA Change: I51V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000034148
Gene: ENSMUSG00000031712
AA Change: I51V

DomainStartEndE-ValueType
Pfam:IL15 33 160 8.6e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209363
AA Change: I51V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000209573
AA Change: I51V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209687
Predicted Effect probably benign
Transcript: ENSMUST00000210094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210885
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211282
Predicted Effect probably benign
Transcript: ENSMUST00000211565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211722
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a a pleiotropic cytokine of the interleukin family of proteins that plays important roles in the innate and adaptive cell homeostasis, as well as peripheral immune function. The encoded protein undergoes proteolytic processing to generate a mature cytokine that stimulates the proliferation of natural killer cells. The transgenic mice overexpressing the encoded protein exhibit an increase in the number of memory CD8+ T cells in a naive state and enhanced protection against bacterial infections. Mice lacking the encoded protein exhibit impaired protection against a strain of attenuated Mycobacterium. [provided by RefSeq, Aug 2016]
PHENOTYPE: Mice homozygous for disruptions of this gene have normal life spans but display a variety of immune system abnormalities and maternal placental defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,457,834 F118S probably damaging Het
Adam5 T G 8: 24,744,135 probably benign Het
Bok T C 1: 93,686,675 probably benign Het
C1s1 C T 6: 124,531,276 V585I possibly damaging Het
Chd2 C T 7: 73,453,200 V1346I probably benign Het
Cyb5a A T 18: 84,871,607 T54S probably benign Het
Dnah7b A T 1: 46,123,777 T428S probably benign Het
Efhc1 T C 1: 20,967,384 Y262H probably damaging Het
Fyb2 A T 4: 104,979,053 I404F probably damaging Het
Glra2 T C X: 165,254,226 N237S probably benign Het
Gypc A G 18: 32,530,007 *96R probably null Het
Itgb2 T C 10: 77,559,513 C483R probably damaging Het
Kdr C T 5: 75,936,323 D1272N probably benign Het
Kif14 C A 1: 136,496,004 T969K probably benign Het
Klhl42 T C 6: 147,092,312 S261P probably damaging Het
Lrp1 C A 10: 127,552,791 G3263V probably damaging Het
Mid1 A G X: 169,927,023 E5G probably damaging Het
Mmrn2 T A 14: 34,399,267 L698* probably null Het
Myh14 T G 7: 44,624,079 Q1393P probably damaging Het
Ncoa7 C T 10: 30,694,163 E267K probably damaging Het
Obox5 T C 7: 15,757,592 I19T possibly damaging Het
Olfr1054 A G 2: 86,333,000 S119P possibly damaging Het
Olfr53 A G 7: 140,652,392 probably null Het
Pcnx A G 12: 81,994,978 Y2128C probably damaging Het
Plcb1 A G 2: 135,294,864 D293G probably benign Het
Prpf4b T C 13: 34,888,146 probably benign Het
Psapl1 A T 5: 36,205,053 T330S probably benign Het
Rap1gap A G 4: 137,720,300 T453A probably damaging Het
Ric1 T A 19: 29,567,481 probably benign Het
Robo1 A G 16: 73,043,132 E1590G probably benign Het
Sorl1 C T 9: 42,046,561 V596I probably benign Het
Tlr12 A G 4: 128,617,389 I356T probably benign Het
Trav8d-2 T C 14: 53,042,449 S8P possibly damaging Het
Tyms C A 5: 30,064,151 V75L probably benign Het
Vmn1r230 T A 17: 20,846,910 S120R probably damaging Het
Vmn2r84 T A 10: 130,391,487 probably benign Het
Wdr27 C T 17: 14,917,779 A388T possibly damaging Het
Other mutations in Il15
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0306:Il15 UTSW 8 82334454 splice site probably benign
R0638:Il15 UTSW 8 82343261 missense probably damaging 0.99
R0685:Il15 UTSW 8 82337559 splice site probably benign
R3012:Il15 UTSW 8 82344420 missense probably damaging 1.00
R7089:Il15 UTSW 8 82337575 missense probably damaging 0.98
Posted On2015-04-16