Incidental Mutation 'IGL02797:Il12b'
ID360022
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: 0.368) question?
Stock #IGL02797
Quality Score
Status
Chromosome11
Chromosomal Location44400063-44414033 bp(+) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) A to G at 44410353 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102796] [ENSMUST00000170513]
Predicted Effect probably null
Transcript: ENSMUST00000102796
SMART Domains Protein: ENSMUSP00000099860
Gene: ENSMUSG00000004296

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
SMART Domains Protein: ENSMUSP00000125867
Gene: ENSMUSG00000004296

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,464 M924T probably benign Het
B3gat2 A G 1: 23,815,279 Y218C probably damaging Het
Bcs1l T C 1: 74,590,461 probably null Het
C77080 C T 4: 129,223,311 R565H probably damaging Het
Cd109 T A 9: 78,661,713 I358N probably damaging Het
Cd276 T C 9: 58,537,436 D84G possibly damaging Het
Chsy1 T C 7: 66,171,664 F549S probably damaging Het
Clca2 T C 3: 145,081,263 N549S probably benign Het
Cma1 A G 14: 55,943,814 S32P possibly damaging Het
Col23a1 G A 11: 51,561,916 probably null Het
Ctps A T 4: 120,562,824 I131K probably benign Het
Cyp2w1 T C 5: 139,356,873 L441P probably damaging Het
Dnajc21 A G 15: 10,461,355 Y170H probably damaging Het
Eif3a A T 19: 60,772,726 L648Q probably damaging Het
Eif3l T A 15: 79,075,277 D6E probably benign Het
Fam228a A T 12: 4,731,484 L125Q probably damaging Het
Foxa2 A G 2: 148,044,125 C263R possibly damaging Het
Gm17455 A G 10: 60,403,328 E124G possibly damaging Het
Gm8882 T A 6: 132,363,045 probably null Het
Gpc6 T G 14: 116,925,982 L16R probably damaging Het
Hdac9 A G 12: 34,393,274 probably benign Het
Herc3 A G 6: 58,868,694 N400S probably benign Het
Herc4 G A 10: 63,316,807 probably null Het
Lama4 A G 10: 39,056,924 R599G probably null Het
Lrp1b T A 2: 41,671,057 E286V Het
Mink1 C T 11: 70,610,350 P784S probably damaging Het
Musk T C 4: 58,366,921 F513S probably benign Het
Nfasc T A 1: 132,610,448 D474V probably damaging Het
Nos2 T G 11: 78,940,344 F420V probably damaging Het
Olfr597 A T 7: 103,320,851 I147L probably benign Het
Pcdhb14 A G 18: 37,449,851 Y670C probably damaging Het
Polr1b A G 2: 129,102,979 E65G probably damaging Het
Ppp1r10 T G 17: 35,928,012 probably null Het
Prag1 C T 8: 36,139,501 R799C probably damaging Het
Ptch1 T C 13: 63,533,607 N485S probably benign Het
Rgsl1 T C 1: 153,807,708 T19A probably damaging Het
Sgpl1 A C 10: 61,101,728 S507A probably benign Het
Sgpp2 A G 1: 78,417,182 D274G probably benign Het
Skap1 A G 11: 96,713,017 D211G possibly damaging Het
Smc3 A G 19: 53,638,758 T830A probably benign Het
Smpd2 G A 10: 41,488,078 T215I possibly damaging Het
Sntg2 T G 12: 30,226,892 Y387S possibly damaging Het
Sorl1 T G 9: 42,037,059 D810A probably damaging Het
Spata5 A G 3: 37,458,316 probably benign Het
Spop T A 11: 95,482,083 I217N probably damaging Het
Stac2 T C 11: 98,043,519 R120G possibly damaging Het
Stau1 A T 2: 166,949,346 *496R probably null Het
Tmeff2 C T 1: 50,928,047 R34C probably damaging Het
Treml2 C T 17: 48,302,711 A57V possibly damaging Het
Vmn2r15 T C 5: 109,297,384 D58G probably benign Het
Vmn2r7 T C 3: 64,691,245 I721M possibly damaging Het
Vmn2r70 C A 7: 85,559,087 M727I probably benign Het
Vwa8 T A 14: 78,925,262 C161S probably benign Het
Other mutations in Il12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01155:Il12b APN 11 44404088 missense probably benign 0.02
IGL01985:Il12b APN 11 44408054 nonsense probably null
IGL02794:Il12b APN 11 44407981 missense probably damaging 1.00
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
X0062:Il12b UTSW 11 44408476 missense probably benign 0.41
Posted On2015-12-18