Incidental Mutation 'IGL01985:Il12b'
ID 181865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il12b
Ensembl Gene ENSMUSG00000004296
Gene Name interleukin 12b
Synonyms Il-12b, IL-23 subunit p40, Il-12p40, IL-12 p40
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.364) question?
Stock # IGL01985
Quality Score
Status
Chromosome 11
Chromosomal Location 44290890-44304860 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 44298881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Stop codon at position 112 (W112*)
Ref Sequence ENSEMBL: ENSMUSP00000125867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102796] [ENSMUST00000170513]
AlphaFold P43432
Predicted Effect probably null
Transcript: ENSMUST00000102796
AA Change: W112*
SMART Domains Protein: ENSMUSP00000099860
Gene: ENSMUSG00000004296
AA Change: W112*

DomainStartEndE-ValueType
IGc2 41 97 4.13e-5 SMART
Pfam:IL12p40_C 122 215 2.4e-31 PFAM
SCOP:d1f42a3 232 331 1e-12 SMART
Blast:FN3 233 321 3e-34 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000170513
AA Change: W112*
SMART Domains Protein: ENSMUSP00000125867
Gene: ENSMUSG00000004296
AA Change: W112*

DomainStartEndE-ValueType
IGc2 41 97 4.13e-5 SMART
Pfam:IL12p40_C 123 214 1.3e-24 PFAM
SCOP:d1f42a3 232 331 1e-12 SMART
Blast:FN3 233 321 3e-34 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes the beta subunit p40 of the Interleukin 12 (IL-12) family of cytokines. Members of the IL-12 family form heterodimers consisting of heavy and light subunits linked by disulfide bonds. The product of this gene, p40, is a subunit of interleukins IL-12 and IL-23. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a null allele display impaired Th1 responses, defects in IFN gamma secretion and NK cell activity, increased susceptibility to bacterial and parasitic infection, alveolar bone loss, and resistance to chemically induced tumors and to delayed type hypersensitivity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AAdacl4fm3 G A 4: 144,442,024 (GRCm39) Q76* probably null Het
Cass4 A C 2: 172,269,126 (GRCm39) S403R probably damaging Het
Ccdc175 A T 12: 72,175,052 (GRCm39) Y540* probably null Het
Cep164 C T 9: 45,690,904 (GRCm39) E1266K probably damaging Het
Clec12b T A 6: 129,359,334 (GRCm39) probably benign Het
Col6a5 T C 9: 105,814,482 (GRCm39) K510R unknown Het
Crisp4 G A 1: 18,204,289 (GRCm39) P101S probably damaging Het
Dapk1 T C 13: 60,884,074 (GRCm39) L614P probably damaging Het
Dip2c T C 13: 9,603,303 (GRCm39) probably benign Het
Dock7 A G 4: 98,911,614 (GRCm39) F589L probably benign Het
Dvl2 T A 11: 69,899,119 (GRCm39) V459E probably damaging Het
E2f6 T C 12: 16,869,064 (GRCm39) probably null Het
Exph5 T C 9: 53,287,869 (GRCm39) L1650P probably damaging Het
Farp2 A G 1: 93,535,324 (GRCm39) Y691C probably damaging Het
Fshb T C 2: 106,889,173 (GRCm39) T44A probably benign Het
Gm28044 T A 13: 67,495,958 (GRCm39) K28* probably null Het
Ino80 T C 2: 119,263,802 (GRCm39) T621A probably damaging Het
Irx5 T A 8: 93,086,155 (GRCm39) probably benign Het
Jmy T C 13: 93,596,144 (GRCm39) H495R possibly damaging Het
Kif21a A T 15: 90,875,970 (GRCm39) V321D probably damaging Het
Lrrc10 T A 10: 116,881,921 (GRCm39) D198E probably damaging Het
Lrsam1 T C 2: 32,818,103 (GRCm39) E651G probably benign Het
Mtarc1 A G 1: 184,519,931 (GRCm39) V230A probably damaging Het
Mylk4 T A 13: 32,901,564 (GRCm39) I475L possibly damaging Het
Myom3 G A 4: 135,493,013 (GRCm39) probably null Het
Or5ac19 A T 16: 59,089,442 (GRCm39) V196E probably benign Het
Pah G A 10: 87,414,844 (GRCm39) V399M probably damaging Het
Pik3r4 G A 9: 105,540,244 (GRCm39) E711K probably benign Het
Rbbp6 A G 7: 122,570,296 (GRCm39) K38E probably damaging Het
Ror1 G A 4: 100,283,161 (GRCm39) V409M possibly damaging Het
Slc6a11 T A 6: 114,111,853 (GRCm39) V140D probably benign Het
Srebf2 G T 15: 82,076,560 (GRCm39) A737S probably benign Het
Tcerg1 A G 18: 42,663,721 (GRCm39) T303A unknown Het
Tmem74 A T 15: 43,730,476 (GRCm39) I189N probably damaging Het
Tnr A G 1: 159,746,607 (GRCm39) D1242G possibly damaging Het
U2surp A T 9: 95,372,279 (GRCm39) F293L probably damaging Het
Uchl5 G A 1: 143,661,864 (GRCm39) probably benign Het
Usp34 T A 11: 23,402,565 (GRCm39) C2472S probably damaging Het
Usp42 G A 5: 143,700,940 (GRCm39) R1028W probably damaging Het
Vmn2r10 A G 5: 109,154,125 (GRCm39) S60P probably benign Het
Vmn2r31 G T 7: 7,397,510 (GRCm39) D249E probably benign Het
Vnn1 C T 10: 23,776,642 (GRCm39) T331I probably benign Het
Zmym6 G T 4: 126,994,541 (GRCm39) V232F probably damaging Het
Other mutations in Il12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Il12b APN 11 44,294,915 (GRCm39) missense probably benign 0.02
IGL02794:Il12b APN 11 44,298,808 (GRCm39) missense probably damaging 1.00
IGL02797:Il12b APN 11 44,301,180 (GRCm39) splice site probably null
IGL03256:Il12b APN 11 44,298,757 (GRCm39) missense probably benign 0.03
R0126:Il12b UTSW 11 44,301,045 (GRCm39) missense probably damaging 1.00
R0960:Il12b UTSW 11 44,299,315 (GRCm39) missense probably damaging 1.00
R1300:Il12b UTSW 11 44,298,903 (GRCm39) critical splice donor site probably null
R1866:Il12b UTSW 11 44,299,353 (GRCm39) missense probably damaging 1.00
R2056:Il12b UTSW 11 44,298,727 (GRCm39) missense probably damaging 1.00
R2355:Il12b UTSW 11 44,301,039 (GRCm39) missense probably benign 0.01
R5381:Il12b UTSW 11 44,298,699 (GRCm39) missense possibly damaging 0.82
R6180:Il12b UTSW 11 44,303,453 (GRCm39) missense probably benign 0.00
R7136:Il12b UTSW 11 44,298,857 (GRCm39) missense probably benign 0.01
R7378:Il12b UTSW 11 44,298,721 (GRCm39) missense probably benign 0.30
R8232:Il12b UTSW 11 44,299,401 (GRCm39) missense possibly damaging 0.63
R8749:Il12b UTSW 11 44,294,864 (GRCm39) start codon destroyed not run
R9097:Il12b UTSW 11 44,301,108 (GRCm39) missense probably damaging 0.98
R9097:Il12b UTSW 11 44,301,107 (GRCm39) missense probably benign 0.03
X0062:Il12b UTSW 11 44,299,303 (GRCm39) missense probably benign 0.41
Posted On 2014-05-07