Incidental Mutation 'IGL02815:Il16'
ID360775
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il16
Ensembl Gene ENSMUSG00000001741
Gene Nameinterleukin 16
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.155) question?
Stock #IGL02815
Quality Score
Status
Chromosome7
Chromosomal Location83642825-83745726 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 83651041 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 348 (E348G)
Ref Sequence ENSEMBL: ENSMUSP00000146496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001792] [ENSMUST00000117410] [ENSMUST00000145610]
Predicted Effect probably damaging
Transcript: ENSMUST00000001792
AA Change: E1046G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000001792
Gene: ENSMUSG00000001741
AA Change: E1046G

DomainStartEndE-ValueType
low complexity region 76 92 N/A INTRINSIC
low complexity region 99 115 N/A INTRINSIC
PDZ 222 300 6.5e-23 SMART
PDZ 361 438 3.89e-12 SMART
low complexity region 507 526 N/A INTRINSIC
low complexity region 556 577 N/A INTRINSIC
low complexity region 589 602 N/A INTRINSIC
low complexity region 647 680 N/A INTRINSIC
low complexity region 776 787 N/A INTRINSIC
low complexity region 825 839 N/A INTRINSIC
low complexity region 978 989 N/A INTRINSIC
PDZ 1115 1192 3.6e-16 SMART
low complexity region 1201 1216 N/A INTRINSIC
PDZ 1234 1310 4.11e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000117410
SMART Domains Protein: ENSMUSP00000112781
Gene: ENSMUSG00000046027

DomainStartEndE-ValueType
Pfam:START 7 196 5.9e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145610
AA Change: E348G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151047
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 pleiotropic cytokine that functions as a chemoattractant, a modulator of T cell activation, and an inhibitor of HIV replication. The signaling process of this cytokine is mediated by CD4. The product of this gene undergoes proteolytic processing, which is found to yield two functional proteins. The cytokine function is exclusively attributed to the secreted C-terminal peptide, while the N-terminal product may play a role in cell cycle control. Caspase 3 is reported to be involved in the proteolytic processing of this protein. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
PHENOTYPE: Mice homozygous for a knock-out allele display a transient but consistent increase of thymidine incorporation in anti-CD3-stimulated CD4+ T cells, but fail to show a hyperproliferative T cell phenotype using BrdU labeling. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810009J06Rik A T 6: 40,964,795 I3F probably benign Het
Alms1 G A 6: 85,667,957 probably null Het
Ap3m1 T C 14: 21,036,682 D393G probably damaging Het
Arfgef3 T A 10: 18,652,551 I363F probably damaging Het
Col19a1 T A 1: 24,285,251 probably null Het
Csnk2a1 G T 2: 152,274,085 probably benign Het
Dnmt3a G A 12: 3,904,226 probably null Het
Emc2 T A 15: 43,507,930 probably benign Het
Epm2aip1 T C 9: 111,273,560 S534P probably benign Het
Farp2 A C 1: 93,560,285 N78T probably damaging Het
Fut8 T A 12: 77,365,083 N106K probably benign Het
Gc A G 5: 89,457,659 probably null Het
Gemin5 T C 11: 58,146,409 Y660C probably damaging Het
Gfpt2 T A 11: 49,823,257 D280E possibly damaging Het
Ints1 G A 5: 139,755,282 T1874M probably damaging Het
Klrb1b A G 6: 128,820,974 L52P probably damaging Het
Lamb3 A T 1: 193,325,555 probably benign Het
Med17 A C 9: 15,262,267 M637R probably damaging Het
Myo18b A G 5: 112,809,735 L1454P probably damaging Het
Mysm1 A T 4: 94,957,048 probably null Het
Naip5 T C 13: 100,222,731 T666A probably benign Het
Nbas T A 12: 13,310,266 S348T probably damaging Het
Pex1 A T 5: 3,636,797 K1226M probably damaging Het
Pi4ka A G 16: 17,358,889 probably benign Het
Pigr T A 1: 130,841,821 V123D probably damaging Het
Pilra G A 5: 137,831,305 P163S probably benign Het
Plekha4 T C 7: 45,538,412 S303P probably damaging Het
Prrc2b A G 2: 32,204,253 E549G probably damaging Het
Ptchd3 C T 11: 121,841,604 S440L probably benign Het
Rock2 A G 12: 16,966,701 probably benign Het
Scn1a A G 2: 66,324,858 S586P probably damaging Het
Slc38a6 T A 12: 73,292,205 H95Q probably damaging Het
Spata31d1d A T 13: 59,726,864 N952K possibly damaging Het
Stard10 T A 7: 101,343,998 C254S probably benign Het
Taar8a A T 10: 24,077,380 Y294F probably benign Het
Tm7sf3 A T 6: 146,613,473 probably null Het
Tnfrsf8 A T 4: 145,298,778 V75D possibly damaging Het
Tor1aip1 C T 1: 156,035,916 R107H probably damaging Het
Trpc4 C T 3: 54,299,274 probably benign Het
Unc13c A G 9: 73,540,263 L1885P possibly damaging Het
Vmn2r9 T C 5: 108,842,990 D835G possibly damaging Het
Zfp462 A T 4: 55,051,303 I1172F probably damaging Het
Other mutations in Il16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00427:Il16 APN 7 83652458 missense probably benign 0.02
IGL01743:Il16 APN 7 83652299 missense probably benign 0.00
IGL01770:Il16 APN 7 83673026 splice site probably benign
IGL02025:Il16 APN 7 83652848 missense probably damaging 1.00
IGL02317:Il16 APN 7 83666889 missense probably damaging 1.00
IGL02412:Il16 APN 7 83652691 missense probably benign 0.03
IGL02550:Il16 APN 7 83674496 missense possibly damaging 0.90
IGL02568:Il16 APN 7 83661276 missense probably damaging 1.00
IGL02578:Il16 APN 7 83677986 critical splice donor site probably null
IGL03157:Il16 APN 7 83722403 missense probably damaging 1.00
IGL03161:Il16 APN 7 83722499 missense probably damaging 1.00
IGL03188:Il16 APN 7 83688163 missense probably benign 0.00
IGL03213:Il16 APN 7 83646500 missense probably damaging 1.00
IGL03274:Il16 APN 7 83661234 missense probably damaging 1.00
R0201:Il16 UTSW 7 83722308 missense probably damaging 0.99
R0309:Il16 UTSW 7 83722554 missense probably damaging 1.00
R0597:Il16 UTSW 7 83677975 splice site probably benign
R0942:Il16 UTSW 7 83663141 missense probably benign 0.01
R1018:Il16 UTSW 7 83674538 missense probably damaging 1.00
R1434:Il16 UTSW 7 83655312 missense probably benign
R1715:Il16 UTSW 7 83648728 missense probably benign 0.01
R2179:Il16 UTSW 7 83688079 splice site probably null
R2520:Il16 UTSW 7 83651994 missense probably benign 0.03
R3425:Il16 UTSW 7 83644040 missense probably damaging 1.00
R3761:Il16 UTSW 7 83650885 missense possibly damaging 0.96
R3943:Il16 UTSW 7 83652015 missense probably damaging 0.97
R4470:Il16 UTSW 7 83650838 intron probably benign
R4530:Il16 UTSW 7 83681310 intron probably benign
R4583:Il16 UTSW 7 83682899 missense probably damaging 1.00
R4777:Il16 UTSW 7 83650896 missense probably benign 0.14
R4874:Il16 UTSW 7 83660945 missense possibly damaging 0.56
R4876:Il16 UTSW 7 83673094 missense probably benign
R5677:Il16 UTSW 7 83674553 missense probably damaging 1.00
R5686:Il16 UTSW 7 83648728 missense probably benign 0.36
R5920:Il16 UTSW 7 83652344 missense probably benign 0.03
R6115:Il16 UTSW 7 83652567 nonsense probably null
R6459:Il16 UTSW 7 83722321 missense probably damaging 1.00
R6459:Il16 UTSW 7 83722328 missense probably damaging 1.00
R6601:Il16 UTSW 7 83722469 missense probably damaging 1.00
R6616:Il16 UTSW 7 83646476 missense probably benign 0.37
R6642:Il16 UTSW 7 83688127 missense probably benign 0.03
R6721:Il16 UTSW 7 83663062 critical splice donor site probably null
R7009:Il16 UTSW 7 83646388 missense probably benign
R7144:Il16 UTSW 7 83646451 missense probably damaging 0.97
R7346:Il16 UTSW 7 83644041 missense probably damaging 1.00
R7403:Il16 UTSW 7 83670135 missense probably damaging 1.00
R7499:Il16 UTSW 7 83674494 missense probably damaging 0.99
R7814:Il16 UTSW 7 83670140 missense possibly damaging 0.46
Posted On2015-12-18