Incidental Mutation 'IGL01155:Il12b'
ID52408
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Il12b
Ensembl Gene ENSMUSG00000004296
Gene Nameinterleukin 12b
SynonymsIL-12 p40, Il-12b, Il-12p40, IL-23 subunit p40
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.309) question?
Stock #IGL01155
Quality Score
Status
Chromosome11
Chromosomal Location44400063-44414033 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 44404088 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 18 (S18T)
Ref Sequence ENSEMBL: ENSMUSP00000125867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102796] [ENSMUST00000170513]
Predicted Effect probably benign
Transcript: ENSMUST00000102796
AA Change: S18T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099860
Gene: ENSMUSG00000004296
AA Change: S18T

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 benign
Transcript: ENSMUST00000170513
AA Change: S18T

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000125867
Gene: ENSMUSG00000004296
AA Change: S18T

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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adgrl3 T A 5: 81,560,893 I409N probably benign Het
Akap13 A G 7: 75,569,936 D29G probably damaging Het
Ap4e1 C A 2: 127,043,445 T322K probably damaging Het
Arfgef1 G A 1: 10,198,982 probably benign Het
Asic5 A G 3: 82,008,588 T282A probably benign Het
Bptf T C 11: 107,080,727 T985A probably damaging Het
Btnl9 A G 11: 49,175,691 F349L probably damaging Het
Bves T A 10: 45,353,859 I253K probably damaging Het
Cars T A 7: 143,569,849 Y455F probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cuedc2 C A 19: 46,332,649 V15F probably damaging Het
Defa22 T A 8: 21,163,037 probably null Het
Fat1 G A 8: 45,023,949 A2011T probably damaging Het
Fyb2 C T 4: 104,999,386 T533I probably benign Het
Gm1043 T C 5: 37,187,089 L182P probably damaging Het
Ice1 A T 13: 70,604,082 V1295E possibly damaging Het
Iqcg A G 16: 33,040,875 V157A probably damaging Het
Itgax T A 7: 128,145,035 M937K probably benign Het
Large1 T C 8: 73,131,989 S84G probably benign Het
Lrp1b T C 2: 41,770,935 T54A probably benign Het
Mfn1 A G 3: 32,542,836 M148V probably damaging Het
Mobp C A 9: 120,168,234 T73K probably benign Het
Ms4a3 T C 19: 11,629,655 probably benign Het
Muc5ac C T 7: 141,806,943 probably benign Het
Mzt2 A C 16: 15,862,410 S104A possibly damaging Het
Naa16 T A 14: 79,384,715 K27N probably damaging Het
Nos1 T A 5: 117,945,926 I1267N probably damaging Het
Olfr16 T A 1: 172,956,924 I43N probably benign Het
Rara A G 11: 98,968,184 E153G possibly damaging Het
Scn2a T G 2: 65,717,748 S66A probably damaging Het
Slc6a1 A T 6: 114,314,465 probably null Het
Sorbs3 A G 14: 70,199,341 V136A probably damaging Het
Spink5 T A 18: 43,981,147 H143Q probably benign Het
Susd2 G A 10: 75,640,892 T99I possibly damaging Het
T C T 17: 8,441,745 probably null Het
Tac2 G A 10: 127,726,134 probably null Het
Tfap4 G T 16: 4,547,359 P180T probably damaging Het
Trap1 G A 16: 4,043,978 Q641* probably null Het
Unc119 A G 11: 78,348,609 N252S probably damaging Het
Other mutations in Il12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01985:Il12b APN 11 44408054 nonsense probably null
IGL02794:Il12b APN 11 44407981 missense probably damaging 1.00
IGL02797:Il12b APN 11 44410353 splice site probably null
IGL03256:Il12b APN 11 44407930 missense probably benign 0.03
R0126:Il12b UTSW 11 44410218 missense probably damaging 1.00
R0960:Il12b UTSW 11 44408488 missense probably damaging 1.00
R1300:Il12b UTSW 11 44408076 critical splice donor site probably null
R1866:Il12b UTSW 11 44408526 missense probably damaging 1.00
R2056:Il12b UTSW 11 44407900 missense probably damaging 1.00
R2355:Il12b UTSW 11 44410212 missense probably benign 0.01
R5381:Il12b UTSW 11 44407872 missense possibly damaging 0.82
R6180:Il12b UTSW 11 44412626 missense probably benign 0.00
R7136:Il12b UTSW 11 44408030 missense probably benign 0.01
R7378:Il12b UTSW 11 44407894 missense probably benign 0.30
R8232:Il12b UTSW 11 44408574 missense possibly damaging 0.63
R8749:Il12b UTSW 11 44404037 start codon destroyed not run
X0062:Il12b UTSW 11 44408476 missense probably benign 0.41
Posted On2013-06-21