Incidental Mutation 'R6279:Il12a'
ID 507817
Institutional Source Beutler Lab
Gene Symbol Il12a
Ensembl Gene ENSMUSG00000027776
Gene Name interleukin 12a
Synonyms p35, IL-12p35
MMRRC Submission 044449-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6279 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 68597977-68605880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 68605312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 193 (I193F)
Ref Sequence ENSEMBL: ENSMUSP00000103446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029345] [ENSMUST00000107816]
AlphaFold P43431
Predicted Effect probably damaging
Transcript: ENSMUST00000029345
AA Change: I214F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000029345
Gene: ENSMUSG00000027776
AA Change: I214F

DomainStartEndE-ValueType
low complexity region 1 26 N/A INTRINSIC
Pfam:IL12 27 236 2.5e-106 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000107816
AA Change: I193F

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103446
Gene: ENSMUSG00000027776
AA Change: I193F

DomainStartEndE-ValueType
Pfam:IL12 1 215 6.8e-128 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192812
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195517
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null homozygotes have decreased NK cell responses, altered effector T cell differentiation, and increased susceptibility to parasitic infections. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap1s3 T C 1: 79,602,840 (GRCm39) K56E probably damaging Het
Apob C T 12: 8,057,769 (GRCm39) R2084* probably null Het
Arid1b C A 17: 5,392,274 (GRCm39) L1935M probably damaging Het
Bag6 T C 17: 35,357,577 (GRCm39) V122A probably damaging Het
Bmal2 A G 6: 146,723,444 (GRCm39) Y258C probably damaging Het
Cacna1e T A 1: 154,301,678 (GRCm39) T1685S probably benign Het
Cd163 T A 6: 124,294,950 (GRCm39) C671* probably null Het
Cul3 A G 1: 80,264,669 (GRCm39) V211A probably damaging Het
Cyp2d22 C A 15: 82,258,169 (GRCm39) K150N probably damaging Het
Dnah6 A T 6: 73,042,798 (GRCm39) I3208N probably damaging Het
Dnah7b T C 1: 46,365,046 (GRCm39) F3609S probably damaging Het
Endod1 T C 9: 14,268,166 (GRCm39) T440A probably benign Het
Exph5 A G 9: 53,285,246 (GRCm39) T776A possibly damaging Het
Faap24 A C 7: 35,095,709 (GRCm39) V12G possibly damaging Het
Gabrg2 T C 11: 41,891,350 (GRCm39) probably null Het
Ggta1 A G 2: 35,298,006 (GRCm39) Y148H probably damaging Het
Hspe1 T A 1: 55,129,860 (GRCm39) probably null Het
Il2rb T C 15: 78,365,738 (GRCm39) N520D possibly damaging Het
Kat6a A G 8: 23,429,628 (GRCm39) Q1661R unknown Het
Klhl18 T A 9: 110,265,130 (GRCm39) N362I probably benign Het
Lrba A G 3: 86,256,171 (GRCm39) D1171G probably benign Het
Mef2b C T 8: 70,619,769 (GRCm39) T285I possibly damaging Het
Mmrn2 T C 14: 34,119,614 (GRCm39) S198P probably benign Het
Msh6 T C 17: 88,287,677 (GRCm39) W106R probably damaging Het
Nek5 T A 8: 22,597,737 (GRCm39) M281L probably benign Het
Or10w3 A G 19: 13,704,029 (GRCm39) I135V probably benign Het
Or2y15 T A 11: 49,351,039 (GRCm39) C178S probably damaging Het
Or4c105 A T 2: 88,647,719 (GRCm39) D68V probably damaging Het
Or52e19 A T 7: 102,959,636 (GRCm39) H236L probably benign Het
Or52e7 G A 7: 104,684,878 (GRCm39) V158M probably benign Het
Pcdhgb5 T A 18: 37,865,752 (GRCm39) F516I probably damaging Het
Pde10a T C 17: 9,197,789 (GRCm39) I1026T probably damaging Het
Pde4dip A C 3: 97,606,496 (GRCm39) L2126R probably damaging Het
Pds5b T A 5: 150,646,713 (GRCm39) N167K possibly damaging Het
Pkmyt1 C T 17: 23,951,476 (GRCm39) P10L probably benign Het
Pphln1-ps1 T C 16: 13,495,134 (GRCm39) S78P probably damaging Het
Prr5l A T 2: 101,547,765 (GRCm39) Y253* probably null Het
Rdh9 A G 10: 127,612,627 (GRCm39) T92A probably benign Het
Reln A G 5: 22,101,839 (GRCm39) Y3364H probably damaging Het
Rufy4 T A 1: 74,172,383 (GRCm39) S369T probably benign Het
Ryr1 A T 7: 28,786,853 (GRCm39) M1587K possibly damaging Het
Ryr2 T A 13: 11,695,885 (GRCm39) H2994L probably damaging Het
Safb2 T C 17: 56,870,226 (GRCm39) H950R possibly damaging Het
Sez6 T C 11: 77,867,367 (GRCm39) V788A possibly damaging Het
Sfrp4 G A 13: 19,808,023 (GRCm39) A141T probably damaging Het
Sh3d19 A T 3: 86,011,409 (GRCm39) I332F possibly damaging Het
Skor1 A T 9: 63,052,596 (GRCm39) W458R probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc19a2 C T 1: 164,084,344 (GRCm39) T78M probably damaging Het
Slc8a3 T A 12: 81,361,752 (GRCm39) I356F probably damaging Het
Slk A G 19: 47,630,443 (GRCm39) T1205A probably damaging Het
Tcte1 T C 17: 45,844,215 (GRCm39) S64P possibly damaging Het
Tnpo1 G A 13: 99,027,216 (GRCm39) P25L possibly damaging Het
Top3a T C 11: 60,640,234 (GRCm39) D488G probably benign Het
Tshz1 A T 18: 84,033,436 (GRCm39) V324D probably damaging Het
Ttc21a T C 9: 119,790,905 (GRCm39) S884P possibly damaging Het
Usp17lb A G 7: 104,489,898 (GRCm39) L342P probably damaging Het
Vwa3a A G 7: 120,381,623 (GRCm39) N3S probably damaging Het
Zfp672 A T 11: 58,208,094 (GRCm39) C76S probably damaging Het
Other mutations in Il12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Il12a APN 3 68,598,888 (GRCm39) missense possibly damaging 0.96
IGL01820:Il12a APN 3 68,599,495 (GRCm39) splice site probably benign
IGL01989:Il12a APN 3 68,598,909 (GRCm39) splice site probably benign
bakers_dozen UTSW 3 68,605,320 (GRCm39) frame shift probably null
R0388:Il12a UTSW 3 68,602,520 (GRCm39) splice site probably null
R0646:Il12a UTSW 3 68,605,223 (GRCm39) splice site probably benign
R1083:Il12a UTSW 3 68,602,666 (GRCm39) missense probably damaging 1.00
R1588:Il12a UTSW 3 68,602,896 (GRCm39) missense probably benign 0.04
R2240:Il12a UTSW 3 68,601,517 (GRCm39) nonsense probably null
R2909:Il12a UTSW 3 68,605,320 (GRCm39) frame shift probably null
R2925:Il12a UTSW 3 68,605,320 (GRCm39) frame shift probably null
R3696:Il12a UTSW 3 68,605,320 (GRCm39) frame shift probably null
R3697:Il12a UTSW 3 68,605,320 (GRCm39) frame shift probably null
R3698:Il12a UTSW 3 68,605,320 (GRCm39) frame shift probably null
R4332:Il12a UTSW 3 68,602,594 (GRCm39) intron probably benign
R5809:Il12a UTSW 3 68,602,595 (GRCm39) intron probably benign
R6305:Il12a UTSW 3 68,601,511 (GRCm39) missense possibly damaging 0.80
R6847:Il12a UTSW 3 68,602,899 (GRCm39) missense probably damaging 1.00
R7751:Il12a UTSW 3 68,605,235 (GRCm39) missense probably damaging 1.00
R8188:Il12a UTSW 3 68,598,872 (GRCm39) missense unknown
R8339:Il12a UTSW 3 68,599,438 (GRCm39) nonsense probably null
R9145:Il12a UTSW 3 68,598,875 (GRCm39) missense unknown
RF003:Il12a UTSW 3 68,602,562 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTGGACTTTGCATTGACTGTC -3'
(R):5'- AGGTAGCTGTGCCACCTTTG -3'

Sequencing Primer
(F):5'- GACTGTCTCCCATTTTGCAGACAAAC -3'
(R):5'- ATTCCTGAAGGAGCTTAAGGCCC -3'
Posted On 2018-03-15