Incidental Mutation 'R1741:Il21'
ID 200328
Institutional Source Beutler Lab
Gene Symbol Il21
Ensembl Gene ENSMUSG00000027718
Gene Name interleukin 21
MMRRC Submission 039773-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1741 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 37222759-37232636 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 37227662 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 111 (H111R)
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: H111R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029273
Gene: ENSMUSG00000027718
AA Change: H111R

Pfam:IL15 4 142 7.2e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147691
Predicted Effect probably benign
Transcript: ENSMUST00000161015
AA Change: H111R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000124668
Gene: ENSMUSG00000027718
AA Change: H111R

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
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 92.9%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik A G 18: 52,660,506 (GRCm38) N37S probably damaging Het
9530053A07Rik G T 7: 28,157,854 (GRCm38) C2209F probably damaging Het
Acad10 T C 5: 121,647,836 (GRCm38) K230R probably damaging Het
Actl7a A G 4: 56,744,252 (GRCm38) N260D probably benign Het
Adam24 T C 8: 40,679,603 (GRCm38) Y37H probably benign Het
Ahcy G A 2: 155,064,234 (GRCm38) A229V probably benign Het
Ap3b2 A G 7: 81,467,599 (GRCm38) V563A possibly damaging Het
Bcl9l T A 9: 44,509,689 (GRCm38) M1427K probably damaging Het
Btf3 C T 13: 98,316,296 (GRCm38) M1I probably null Het
Btg4 A T 9: 51,116,610 (GRCm38) I27L probably benign Het
Ccdc171 A G 4: 83,620,839 (GRCm38) Y366C probably damaging Het
Chd3 A G 11: 69,355,654 (GRCm38) Y1085H probably damaging Het
Cnot10 T C 9: 114,597,824 (GRCm38) D616G possibly damaging Het
Crlf1 C A 8: 70,500,906 (GRCm38) D243E probably damaging Het
Cyp2b23 A G 7: 26,673,077 (GRCm38) V371A possibly damaging Het
Dennd2a A G 6: 39,493,157 (GRCm38) S534P probably damaging Het
Eln A G 5: 134,729,184 (GRCm38) V185A unknown Het
Epor C T 9: 21,959,771 (GRCm38) G301D probably damaging Het
Fam83f T G 15: 80,692,267 (GRCm38) V373G possibly damaging Het
Fbxl21 A T 13: 56,537,102 (GRCm38) T340S probably benign Het
Fez1 T A 9: 36,843,733 (GRCm38) D9E probably damaging Het
Fsip2 T C 2: 82,989,912 (GRCm38) F5330L probably benign Het
Glis1 G A 4: 107,568,347 (GRCm38) R197Q probably damaging Het
Gm10277 TC T 11: 77,786,002 (GRCm38) probably null Het
Gpr158 A G 2: 21,827,548 (GRCm38) N1153S probably benign Het
Gramd4 T C 15: 86,091,529 (GRCm38) probably null Het
Hhatl T A 9: 121,789,059 (GRCm38) Y210F possibly damaging Het
Hltf T C 3: 20,086,188 (GRCm38) W422R probably damaging Het
Hspa5 T C 2: 34,772,692 (GRCm38) S87P possibly damaging Het
Ip6k1 G A 9: 108,040,984 (GRCm38) G73S probably benign Het
Kdm5b A G 1: 134,618,017 (GRCm38) D972G possibly damaging Het
Kif21b C T 1: 136,156,142 (GRCm38) A709V probably damaging Het
Kmt2d T C 15: 98,845,234 (GRCm38) probably benign Het
Lrrc14b A G 13: 74,363,586 (GRCm38) L125P probably damaging Het
Mapk8ip3 A G 17: 24,899,854 (GRCm38) S1169P probably damaging Het
Me3 A T 7: 89,851,833 (GRCm38) Y584F probably damaging Het
Mxra7 T G 11: 116,816,244 (GRCm38) probably null Het
Nf1 T C 11: 79,443,931 (GRCm38) S870P probably benign Het
Npr2 G A 4: 43,643,350 (GRCm38) G525S probably damaging Het
Nyap1 A T 5: 137,733,125 (GRCm38) S726T probably damaging Het
Padi4 A G 4: 140,746,170 (GRCm38) V652A probably damaging Het
Pclo A G 5: 14,676,510 (GRCm38) probably benign Het
Pgm2 G A 4: 99,964,865 (GRCm38) probably null Het
Piezo2 A G 18: 63,021,173 (GRCm38) S2512P probably damaging Het
Ptbp3 A T 4: 59,482,624 (GRCm38) D386E probably damaging Het
Ptk2 A G 15: 73,242,406 (GRCm38) V701A possibly damaging Het
Ptpn3 A G 4: 57,254,922 (GRCm38) V154A probably damaging Het
Rassf4 T C 6: 116,639,489 (GRCm38) E287G probably damaging Het
Rnh1 C T 7: 141,164,023 (GRCm38) R174H probably benign Het
Scn9a T A 2: 66,487,594 (GRCm38) I1517F probably damaging Het
Sftpb C A 6: 72,305,813 (GRCm38) A90E probably benign Het
Slc39a14 T C 14: 70,318,744 (GRCm38) K61R probably damaging Het
Tmem132d A C 5: 127,784,858 (GRCm38) M733R probably benign Het
Tmem248 A G 5: 130,236,823 (GRCm38) I156V probably benign Het
Traf2 T C 2: 25,524,483 (GRCm38) D339G probably damaging Het
Trappc11 A G 8: 47,529,327 (GRCm38) probably null Het
Tuba8 T A 6: 121,222,768 (GRCm38) I137N possibly damaging Het
Txlnb A G 10: 17,838,947 (GRCm38) T376A probably damaging Het
Usp34 A G 11: 23,364,103 (GRCm38) T663A probably benign Het
Vmn2r26 T A 6: 124,061,472 (GRCm38) F669I probably damaging Het
Wdr95 G A 5: 149,595,396 (GRCm38) probably null Het
Wfdc8 T G 2: 164,608,869 (GRCm38) probably benign Het
Zfp64 A C 2: 168,926,318 (GRCm38) V458G probably benign Het
Zfp868 C T 8: 69,611,868 (GRCm38) G272D probably damaging Het
Other mutations in Il21
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0433:Il21 UTSW 3 37,232,535 (GRCm38) missense possibly damaging 0.46
R0579:Il21 UTSW 3 37,227,774 (GRCm38) missense possibly damaging 0.65
R1641:Il21 UTSW 3 37,232,532 (GRCm38) missense probably benign 0.00
R1754:Il21 UTSW 3 37,225,525 (GRCm38) missense possibly damaging 0.93
R1933:Il21 UTSW 3 37,232,486 (GRCm38) missense probably benign
R4560:Il21 UTSW 3 37,225,484 (GRCm38) nonsense probably null
R4975:Il21 UTSW 3 37,232,504 (GRCm38) missense probably damaging 0.99
R4977:Il21 UTSW 3 37,232,504 (GRCm38) missense probably damaging 0.99
R4979:Il21 UTSW 3 37,232,504 (GRCm38) missense probably damaging 0.99
R5254:Il21 UTSW 3 37,227,735 (GRCm38) missense possibly damaging 0.94
R5267:Il21 UTSW 3 37,227,797 (GRCm38) missense probably benign
R5641:Il21 UTSW 3 37,227,768 (GRCm38) nonsense probably null
R7058:Il21 UTSW 3 37,232,480 (GRCm38) missense probably damaging 1.00
R7259:Il21 UTSW 3 37,227,654 (GRCm38) critical splice donor site probably null
R9039:Il21 UTSW 3 37,232,453 (GRCm38) missense probably benign
R9249:Il21 UTSW 3 37,225,528 (GRCm38) critical splice acceptor site probably null
R9603:Il21 UTSW 3 37,227,800 (GRCm38) missense possibly damaging 0.94
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-05-23