Incidental Mutation 'R3698:Il12a'
ID 269880
Institutional Source Beutler Lab
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 # R3698 (G1)
Quality Score 217
Status Not validated
Chromosome 3
Chromosomal Location 68597977-68605880 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) TCAC to TC at 68605320 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 null
Transcript: ENSMUST00000029345
AA Change: 216
SMART Domains Protein: ENSMUSP00000029345
Gene: ENSMUSG00000027776
AA Change: 216

DomainStartEndE-ValueType
low complexity region 1 26 N/A INTRINSIC
Pfam:IL12 27 236 2.5e-106 PFAM
Predicted Effect probably null
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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afap1l2 C A 19: 56,904,955 (GRCm39) S549I possibly damaging Het
Aldh4a1 A G 4: 139,369,562 (GRCm39) H371R possibly damaging Het
Arpc1a G T 5: 145,033,001 (GRCm39) K103N probably damaging Het
Btg3 A G 16: 78,161,722 (GRCm39) S136P probably benign Het
Ckap5 C A 2: 91,450,511 (GRCm39) T2014K probably benign Het
Dennd10 A G 19: 60,821,054 (GRCm39) probably null Het
Emc1 T G 4: 139,092,697 (GRCm39) S546A possibly damaging Het
G3bp2 T C 5: 92,204,139 (GRCm39) E316G possibly damaging Het
Il6st T G 13: 112,640,916 (GRCm39) D897E probably benign Het
Ipo13 A G 4: 117,757,890 (GRCm39) L767P probably damaging Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl13 G A X: 23,114,422 (GRCm39) T94I probably benign Het
Morc2a A T 11: 3,629,672 (GRCm39) K364* probably null Het
Nat8f2 T A 6: 85,844,778 (GRCm39) T195S probably benign Het
Nckipsd G A 9: 108,688,320 (GRCm39) G83S probably damaging Het
Nfu1 A G 6: 86,992,634 (GRCm39) T83A probably damaging Het
Nid1 G A 13: 13,661,344 (GRCm39) C748Y probably damaging Het
Or1af1 C T 2: 37,110,188 (GRCm39) P229L probably damaging Het
Or5w15 T C 2: 87,568,360 (GRCm39) T103A probably benign Het
Rgs22 C T 15: 36,100,038 (GRCm39) V226I probably benign Het
Slc13a4 T A 6: 35,251,892 (GRCm39) I467F probably benign Het
Stat2 T A 10: 128,114,662 (GRCm39) L253Q probably benign Het
Tnxb G T 17: 34,909,407 (GRCm39) probably null Het
Ttn C T 2: 76,564,595 (GRCm39) R28514H probably damaging Het
Usp15 T C 10: 123,017,643 (GRCm39) D51G probably damaging Het
Uvrag T C 7: 98,589,150 (GRCm39) E417G 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
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
Predicted Primers PCR Primer
(F):5'- GGACTTTGCATTGACTGTCTCC -3'
(R):5'- AGGTAGCTGTGCCACCTTTG -3'

Sequencing Primer
(F):5'- GACTGTCTCCCATTTTGCAGACAAAC -3'
(R):5'- CCACCTTTGGGGAGATGAG -3'
Posted On 2015-03-18