Incidental Mutation 'IGL01820:Il12a'
ID 154534
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 # IGL01820
Quality Score
Status
Chromosome 3
Chromosomal Location 68597977-68605880 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 68599495 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,765,896 (GRCm39) probably benign Het
Adcy2 T C 13: 68,886,664 (GRCm39) probably null Het
Akna G T 4: 63,304,495 (GRCm39) T553N probably benign Het
Boc A G 16: 44,312,235 (GRCm39) I609T possibly damaging Het
Btbd9 C T 17: 30,746,383 (GRCm39) V148I possibly damaging Het
Cacna1d A T 14: 29,764,823 (GRCm39) I2049N possibly damaging Het
Cdhr1 A T 14: 36,807,536 (GRCm39) M368K probably benign Het
Cftr A G 6: 18,226,138 (GRCm39) Y362C probably damaging Het
Cnppd1 G T 1: 75,116,236 (GRCm39) probably null Het
Col3a1 T C 1: 45,360,768 (GRCm39) I66T unknown Het
Col5a2 C A 1: 45,481,985 (GRCm39) M46I unknown Het
Csmd3 G T 15: 47,470,538 (GRCm39) C3379* probably null Het
Ctla2b T A 13: 61,044,503 (GRCm39) *28C probably null Het
Ddhd2 C T 8: 26,239,781 (GRCm39) E33K possibly damaging Het
Dock3 T C 9: 106,773,092 (GRCm39) H387R probably damaging Het
Dyrk1b T A 7: 27,881,025 (GRCm39) probably benign Het
Fam131c T C 4: 141,107,648 (GRCm39) C53R probably damaging Het
Fat1 T A 8: 45,463,539 (GRCm39) F1360L probably damaging Het
Gm10320 G T 13: 98,626,045 (GRCm39) S113* probably null Het
Ifih1 T C 2: 62,447,657 (GRCm39) D349G probably damaging Het
Ivl A T 3: 92,478,940 (GRCm39) M375K possibly damaging Het
Krt82 C A 15: 101,451,887 (GRCm39) probably benign Het
Mc4r C T 18: 66,992,226 (GRCm39) V296I probably benign Het
Met T A 6: 17,534,230 (GRCm39) I691N possibly damaging Het
Mycbp2 A T 14: 103,425,937 (GRCm39) I2396K probably damaging Het
Napg C A 18: 63,119,516 (GRCm39) Q135K probably benign Het
Nf2 A T 11: 4,739,655 (GRCm39) probably null Het
Nrxn1 G T 17: 90,950,531 (GRCm39) H549Q probably damaging Het
P4ha1 T A 10: 59,197,736 (GRCm39) I321K probably damaging Het
Prl5a1 T C 13: 28,332,683 (GRCm39) S94P probably benign Het
Prnp T C 2: 131,778,990 (GRCm39) V214A probably benign Het
Ptprc A T 1: 137,993,936 (GRCm39) F1165I probably damaging Het
Rdh10 T C 1: 16,198,483 (GRCm39) V207A possibly damaging Het
Rel A T 11: 23,703,218 (GRCm39) N131K probably benign Het
Rgs14 A T 13: 55,531,338 (GRCm39) D448V probably benign Het
Spag5 T G 11: 78,195,085 (GRCm39) S131A probably benign Het
Styxl1 C T 5: 135,794,604 (GRCm39) D88N probably damaging Het
Tlr3 C T 8: 45,851,376 (GRCm39) R507H probably benign Het
Ttn C T 2: 76,616,670 (GRCm39) E16528K possibly damaging Het
Txlnb T C 10: 17,682,606 (GRCm39) probably null Het
Unc13a A G 8: 72,107,591 (GRCm39) V567A probably damaging Het
Vmn1r8 T C 6: 57,013,653 (GRCm39) S235P possibly damaging Het
Vmn2r51 T A 7: 9,839,409 (GRCm39) N60Y probably damaging Het
Wbp1l T A 19: 46,640,922 (GRCm39) L68Q probably damaging Het
Wdfy3 A T 5: 102,071,947 (GRCm39) V981E probably benign Het
Zdhhc13 T C 7: 48,458,613 (GRCm39) S316P probably damaging Het
Zfp516 C T 18: 83,005,486 (GRCm39) R797C probably benign Het
Zp3r A G 1: 130,526,657 (GRCm39) V182A probably benign Het
Other mutations in Il12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01734:Il12a APN 3 68,598,888 (GRCm39) missense possibly damaging 0.96
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 2014-02-04