Incidental Mutation 'IGL01989:Il12a'
ID 182841
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il12a
Ensembl Gene ENSMUSG00000027776
Gene Name interleukin 12a
Synonyms p35, IL-12p35
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01989
Quality Score
Status
Chromosome 3
Chromosomal Location 68597977-68605880 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 68598909 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000103446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029345] [ENSMUST00000107816]
AlphaFold P43431
Predicted Effect probably benign
Transcript: ENSMUST00000029345
SMART Domains Protein: ENSMUSP00000029345
Gene: ENSMUSG00000027776

DomainStartEndE-ValueType
low complexity region 1 26 N/A INTRINSIC
Pfam:IL12 27 236 2.5e-106 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107816
SMART Domains Protein: ENSMUSP00000103446
Gene: ENSMUSG00000027776

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
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik A T 10: 28,862,266 (GRCm39) V8D probably damaging Het
Asb15 A G 6: 24,565,943 (GRCm39) T299A probably damaging Het
Asph A T 4: 9,602,462 (GRCm39) probably benign Het
Cadm3 G A 1: 173,165,578 (GRCm39) probably benign Het
Cep164 G A 9: 45,704,313 (GRCm39) probably benign Het
Ces2c C A 8: 105,576,375 (GRCm39) N129K probably damaging Het
Chdh C A 14: 29,753,688 (GRCm39) P199Q possibly damaging Het
Dnah7b T C 1: 46,328,694 (GRCm39) V3142A probably damaging Het
Dnmbp A G 19: 43,855,994 (GRCm39) L254P probably damaging Het
Dock2 G T 11: 34,218,053 (GRCm39) N1172K probably benign Het
Dppa5a T A 9: 78,275,103 (GRCm39) E66D probably benign Het
F5 A G 1: 164,003,876 (GRCm39) S224G probably benign Het
Fign T C 2: 63,810,794 (GRCm39) T159A probably benign Het
Fsip2 A T 2: 82,824,211 (GRCm39) D6648V probably damaging Het
Gbp2b A T 3: 142,317,201 (GRCm39) E519V probably benign Het
Hdac10 A G 15: 89,009,546 (GRCm39) L462P probably damaging Het
Hecw2 A G 1: 53,879,951 (GRCm39) L1286S probably damaging Het
Hnrnpll A G 17: 80,346,169 (GRCm39) V364A probably benign Het
Hnrnpul2 A G 19: 8,800,992 (GRCm39) T282A probably damaging Het
Insl5 C A 4: 102,883,838 (GRCm39) V28L probably benign Het
Kcnj3 G A 2: 55,327,243 (GRCm39) D11N probably benign Het
Lrfn2 A G 17: 49,378,113 (GRCm39) D398G probably damaging Het
Lrp1 C T 10: 127,413,998 (GRCm39) D1137N probably damaging Het
Mettl18 C A 1: 163,823,872 (GRCm39) D64E probably benign Het
Mrpl3 A G 9: 104,948,678 (GRCm39) T245A probably benign Het
Mrps18c C A 5: 100,949,775 (GRCm39) P52Q probably damaging Het
Myh3 A T 11: 66,977,481 (GRCm39) D377V probably damaging Het
N4bp1 C A 8: 87,575,115 (GRCm39) V727L probably damaging Het
Npffr2 A G 5: 89,730,831 (GRCm39) T254A probably benign Het
Nsfl1c C A 2: 151,342,649 (GRCm39) T73K probably damaging Het
Or8a1b C T 9: 37,623,132 (GRCm39) V148I probably damaging Het
Plxna1 C T 6: 89,306,396 (GRCm39) W1442* probably null Het
Serpina3n T A 12: 104,379,750 (GRCm39) M381K probably benign Het
Shank3 C T 15: 89,387,502 (GRCm39) probably benign Het
Smtnl1 T C 2: 84,648,814 (GRCm39) N147D probably benign Het
Sprr2j-ps T C 3: 92,326,412 (GRCm39) S96P unknown Het
Ssh2 A G 11: 77,344,511 (GRCm39) E832G possibly damaging Het
Stxbp1 T C 2: 32,702,076 (GRCm39) D207G probably benign Het
Sult1c2 A T 17: 54,281,055 (GRCm39) M16K probably benign Het
Tmem247 A G 17: 87,225,719 (GRCm39) E53G probably damaging Het
Tmem86a A T 7: 46,703,187 (GRCm39) I105F probably benign Het
Tph2 A G 10: 114,981,921 (GRCm39) S304P probably benign Het
Ttn T C 2: 76,608,883 (GRCm39) D17711G probably damaging Het
Urb1 A T 16: 90,566,474 (GRCm39) probably benign Het
Vcan T A 13: 89,837,478 (GRCm39) I1729L possibly damaging Het
Vmn2r90 T A 17: 17,933,494 (GRCm39) Y351* probably null Het
Wfdc5 C T 2: 164,020,651 (GRCm39) probably null Het
Wnt3 G A 11: 103,703,233 (GRCm39) D239N probably benign Het
Zbtb8b T A 4: 129,326,181 (GRCm39) E295V probably damaging Het
Zfp458 T C 13: 67,407,691 (GRCm39) T52A 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
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
R6279:Il12a UTSW 3 68,605,312 (GRCm39) missense probably damaging 0.96
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
Posted On 2014-05-07