Incidental Mutation 'R1641:Il21'
ID 173518
Institutional Source Beutler Lab
Gene Symbol Il21
Ensembl Gene ENSMUSG00000027718
Gene Name interleukin 21
Synonyms
MMRRC Submission 039677-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1641 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 37276908-37286785 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 37286681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 12 (F12L)
Ref Sequence ENSEMBL: ENSMUSP00000124668 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029273] [ENSMUST00000161015]
AlphaFold Q9ES17
Predicted Effect probably benign
Transcript: ENSMUST00000029273
AA Change: F12L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000029273
Gene: ENSMUSG00000027718
AA Change: F12L

DomainStartEndE-ValueType
Pfam:IL15 4 142 7.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147691
Predicted Effect probably benign
Transcript: ENSMUST00000161015
AA Change: F12L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000124668
Gene: ENSMUSG00000027718
AA Change: F12L

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 26 38 N/A INTRINSIC
PDB:3TGX|P 39 140 8e-36 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196943
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200285
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
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 common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene develop normally and have a normal life span. One allele exhibits enhanced IgE isotype switch and IgE production after antigen immunization. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 77,039,626 (GRCm39) T228S probably benign Het
Adamts2 C T 11: 50,683,612 (GRCm39) P965S probably damaging Het
Ankrd11 A G 8: 123,618,485 (GRCm39) I1768T probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Baz2b A T 2: 59,743,234 (GRCm39) L1579Q probably damaging Het
Btbd7 A G 12: 102,757,034 (GRCm39) V684A probably damaging Het
Camk1g T A 1: 193,038,665 (GRCm39) I86F probably benign Het
Capn13 A T 17: 73,689,889 (GRCm39) S41T possibly damaging Het
Cep192 C A 18: 67,980,504 (GRCm39) L1422I probably damaging Het
Chaf1a T C 17: 56,354,380 (GRCm39) F217L unknown Het
Clca3b A T 3: 144,529,274 (GRCm39) M800K possibly damaging Het
Cplane1 A G 15: 8,258,443 (GRCm39) T2230A probably benign Het
Crocc A G 4: 140,744,388 (GRCm39) V1836A probably benign Het
Csmd2 G A 4: 128,377,188 (GRCm39) V2023M possibly damaging Het
Cul9 A G 17: 46,854,486 (GRCm39) V72A possibly damaging Het
Ddx52 T C 11: 83,834,269 (GRCm39) probably null Het
Dennd5b A C 6: 148,969,703 (GRCm39) V250G probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Gtpbp4 A T 13: 9,023,285 (GRCm39) M593K probably benign Het
Lrit2 T A 14: 36,791,105 (GRCm39) N261K probably benign Het
Lrrc39 G T 3: 116,364,562 (GRCm39) C151F probably damaging Het
Lsm14a C A 7: 34,050,799 (GRCm39) R426L probably damaging Het
Maml1 G A 11: 50,157,774 (GRCm39) P134S probably benign Het
Map3k13 T C 16: 21,722,542 (GRCm39) C235R probably damaging Het
Naip2 C T 13: 100,298,489 (GRCm39) A516T possibly damaging Het
Nsmaf T C 4: 6,409,884 (GRCm39) E663G probably benign Het
Ntrk3 T C 7: 78,005,822 (GRCm39) N513S probably damaging Het
Nufip1 T G 14: 76,363,692 (GRCm39) N305K possibly damaging Het
Or10al5 C T 17: 38,062,916 (GRCm39) T57I possibly damaging Het
Or2ag1b T A 7: 106,288,918 (GRCm39) T7S probably benign Het
Or4c10b A T 2: 89,711,745 (GRCm39) T192S probably benign Het
Or51a6 T A 7: 102,604,175 (GRCm39) D218V probably benign Het
Or9r3 A T 10: 129,947,872 (GRCm39) Y262* probably null Het
Pi4ka A G 16: 17,194,894 (GRCm39) V168A probably benign Het
Prex2 T C 1: 11,301,996 (GRCm39) V1433A probably damaging Het
Prl7a1 A T 13: 27,817,612 (GRCm39) D217E probably damaging Het
Prr3 G A 17: 36,285,484 (GRCm39) R86* probably null Het
Ptprz1 T C 6: 23,049,605 (GRCm39) F1350L probably damaging Het
R3hcc1l T C 19: 42,552,046 (GRCm39) S348P possibly damaging Het
Rag2 A T 2: 101,459,960 (GRCm39) Q90L probably benign Het
Scel T C 14: 103,770,752 (GRCm39) L62P probably damaging Het
Serpini1 A T 3: 75,521,977 (GRCm39) E156V possibly damaging Het
Skint4 T A 4: 111,993,240 (GRCm39) I321K possibly damaging Het
Slc28a2 A G 2: 122,286,098 (GRCm39) D478G probably damaging Het
Sppl2b G T 10: 80,700,965 (GRCm39) V164F probably damaging Het
Traf5 T A 1: 191,729,470 (GRCm39) N527I probably benign Het
Ttc3 T A 16: 94,244,176 (GRCm39) D17E probably benign Het
Txlnb G A 10: 17,682,521 (GRCm39) A148T possibly damaging Het
Ubtf A G 11: 102,201,757 (GRCm39) Y256H probably damaging Het
Usp25 T C 16: 76,868,559 (GRCm39) F320S possibly damaging Het
Utp14b T C 1: 78,643,656 (GRCm39) V518A probably benign Het
Utp20 A G 10: 88,593,834 (GRCm39) V2192A possibly damaging Het
Vmn1r173 T A 7: 23,402,533 (GRCm39) M256K probably benign Het
Vmn2r114 T A 17: 23,515,962 (GRCm39) M510L probably benign Het
Xdh T A 17: 74,233,547 (GRCm39) Q189L probably benign Het
Zfat C T 15: 68,051,959 (GRCm39) A605T probably benign Het
Other mutations in Il21
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0433:Il21 UTSW 3 37,286,684 (GRCm39) missense possibly damaging 0.46
R0579:Il21 UTSW 3 37,281,923 (GRCm39) missense possibly damaging 0.65
R1741:Il21 UTSW 3 37,281,811 (GRCm39) missense probably benign 0.00
R1754:Il21 UTSW 3 37,279,674 (GRCm39) missense possibly damaging 0.93
R1933:Il21 UTSW 3 37,286,635 (GRCm39) missense probably benign
R4560:Il21 UTSW 3 37,279,633 (GRCm39) nonsense probably null
R4975:Il21 UTSW 3 37,286,653 (GRCm39) missense probably damaging 0.99
R4977:Il21 UTSW 3 37,286,653 (GRCm39) missense probably damaging 0.99
R4979:Il21 UTSW 3 37,286,653 (GRCm39) missense probably damaging 0.99
R5254:Il21 UTSW 3 37,281,884 (GRCm39) missense possibly damaging 0.94
R5267:Il21 UTSW 3 37,281,946 (GRCm39) missense probably benign
R5641:Il21 UTSW 3 37,281,917 (GRCm39) nonsense probably null
R7058:Il21 UTSW 3 37,286,629 (GRCm39) missense probably damaging 1.00
R7259:Il21 UTSW 3 37,281,803 (GRCm39) critical splice donor site probably null
R9039:Il21 UTSW 3 37,286,602 (GRCm39) missense probably benign
R9249:Il21 UTSW 3 37,279,677 (GRCm39) critical splice acceptor site probably null
R9603:Il21 UTSW 3 37,281,949 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGTTGGTGATACAAGTCAAAAGGCTCC -3'
(R):5'- CTGTCAGACAAACCAGGTGAGGTG -3'

Sequencing Primer
(F):5'- GTGACAAACATGGCCTTACCA -3'
(R):5'- Ccacacacacacacacacac -3'
Posted On 2014-04-24