Incidental Mutation 'IGL01734:Il12a'
ID 105618
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 # IGL01734
Quality Score
Status
Chromosome 3
Chromosomal Location 68597977-68605880 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 68598888 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 2 (C2Y)
Ref Sequence ENSEMBL: ENSMUSP00000103446 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029345] [ENSMUST00000107816]
AlphaFold P43431
Predicted Effect unknown
Transcript: ENSMUST00000029345
AA Change: C23Y
SMART Domains Protein: ENSMUSP00000029345
Gene: ENSMUSG00000027776
AA Change: C23Y

DomainStartEndE-ValueType
low complexity region 1 26 N/A INTRINSIC
Pfam:IL12 27 236 2.5e-106 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000107816
AA Change: C2Y

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000103446
Gene: ENSMUSG00000027776
AA Change: C2Y

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,697,371 (GRCm39) W210R possibly damaging Het
Aknad1 T C 3: 108,659,217 (GRCm39) M77T probably benign Het
Aox1 A T 1: 58,393,469 (GRCm39) I1210F possibly damaging Het
Brd8 A T 18: 34,747,858 (GRCm39) probably benign Het
Cdh23 T C 10: 60,139,292 (GRCm39) D3307G probably benign Het
Chsy1 T C 7: 65,821,058 (GRCm39) I431T probably damaging Het
Cobl A G 11: 12,204,980 (GRCm39) probably benign Het
Col28a1 T C 6: 8,158,134 (GRCm39) D308G probably damaging Het
Csmd3 A G 15: 48,048,700 (GRCm39) Y568H probably damaging Het
Dmrt3 T C 19: 25,599,947 (GRCm39) I264T probably damaging Het
Dusp22 G T 13: 30,880,235 (GRCm39) C52F probably damaging Het
Fbxw22 A C 9: 109,212,993 (GRCm39) M318R probably damaging Het
Ffar4 C T 19: 38,102,295 (GRCm39) T310M probably damaging Het
Fn1 A G 1: 71,658,644 (GRCm39) V1138A probably damaging Het
Glt6d1 T A 2: 25,684,505 (GRCm39) Y167F probably benign Het
Hydin T A 8: 111,217,421 (GRCm39) Y1436* probably null Het
Inpp5a T C 7: 139,034,006 (GRCm39) Y38H possibly damaging Het
Jmy A C 13: 93,596,159 (GRCm39) L490R probably damaging Het
Kif26a T A 12: 112,143,262 (GRCm39) L1172H probably benign Het
Kmo A T 1: 175,482,668 (GRCm39) M331L probably benign Het
Lonp1 G A 17: 56,923,026 (GRCm39) T627M probably damaging Het
Lrrc41 T C 4: 115,950,331 (GRCm39) probably null Het
Mast4 A T 13: 102,874,123 (GRCm39) S1556R probably damaging Het
Mmel1 A G 4: 154,976,408 (GRCm39) N490S probably benign Het
Mpped2 A G 2: 106,614,158 (GRCm39) D164G probably damaging Het
Nap1l1 A G 10: 111,328,760 (GRCm39) T230A probably benign Het
Nrap C A 19: 56,338,741 (GRCm39) A913S probably damaging Het
Nudt16 G T 9: 105,008,707 (GRCm39) Q65K probably benign Het
Or1e23 C A 11: 73,407,462 (GRCm39) A188S probably benign Het
Or5ac17 T G 16: 59,036,792 (GRCm39) L61F probably benign Het
Or5ac19 T A 16: 59,089,213 (GRCm39) K272N probably benign Het
Or5al5 T A 2: 85,962,012 (GRCm39) probably benign Het
Or6c76b T A 10: 129,692,671 (GRCm39) C95S probably benign Het
Parp14 A G 16: 35,678,970 (GRCm39) F333L probably benign Het
Pi4ka G T 16: 17,115,124 (GRCm39) Q1422K probably benign Het
Polr3c T C 3: 96,620,836 (GRCm39) E494G probably damaging Het
Prss42 C A 9: 110,627,411 (GRCm39) P49Q probably benign Het
Ptpra C T 2: 130,385,997 (GRCm39) T568I probably damaging Het
Ring1 T C 17: 34,242,294 (GRCm39) D71G probably damaging Het
Siae T A 9: 37,542,782 (GRCm39) S193T probably damaging Het
Slf2 T C 19: 44,961,706 (GRCm39) probably null Het
Spinkl T A 18: 44,307,639 (GRCm39) K7N possibly damaging Het
Tbk1 G A 10: 121,407,888 (GRCm39) R82* probably null Het
Tcf12 T C 9: 71,829,930 (GRCm39) probably null Het
Tcl1b5 G A 12: 105,145,214 (GRCm39) M59I probably benign Het
Thumpd3 C A 6: 113,043,806 (GRCm39) T407K probably damaging Het
Timm29 T C 9: 21,505,031 (GRCm39) V233A probably damaging Het
Tns3 A G 11: 8,469,192 (GRCm39) probably benign Het
Ubash3b T C 9: 40,937,543 (GRCm39) probably benign Het
Ugdh G T 5: 65,580,031 (GRCm39) T253K probably benign Het
Zfp143 T A 7: 109,671,416 (GRCm39) probably benign Het
Zfp738 A G 13: 67,831,563 (GRCm39) probably benign Het
Other mutations in Il12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2014-01-21