Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02797:Il12b'

360022

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 #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

44290890-44304860 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 44301180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102796] [ENSMUST00000170513]

AlphaFold

P43432

Predicted Effect

probably null
Transcript: ENSMUST00000102796

SMART Domains

Protein: ENSMUSP00000099860
Gene: ENSMUSG00000004296

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,187,214 (GRCm39)	M924T	probably benign	Het
Afg2a	A	G	3: 37,512,465 (GRCm39)		probably benign	Het
B3gat2	A	G	1: 23,854,360 (GRCm39)	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,629,620 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,568,995 (GRCm39)	I358N	probably damaging	Het
Cd276	T	C	9: 58,444,719 (GRCm39)	D84G	possibly damaging	Het
Chsy1	T	C	7: 65,821,412 (GRCm39)	F549S	probably damaging	Het
Clca3a2	T	C	3: 144,787,024 (GRCm39)	N549S	probably benign	Het
Cma1	A	G	14: 56,181,271 (GRCm39)	S32P	possibly damaging	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,420,021 (GRCm39)	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,342,628 (GRCm39)	L441P	probably damaging	Het
Dnajc21	A	G	15: 10,461,441 (GRCm39)	Y170H	probably damaging	Het
Eif3a	A	T	19: 60,761,164 (GRCm39)	L648Q	probably damaging	Het
Eif3l	T	A	15: 78,959,477 (GRCm39)	D6E	probably benign	Het
Fam228a	A	T	12: 4,781,484 (GRCm39)	L125Q	probably damaging	Het
Foxa2	A	G	2: 147,886,045 (GRCm39)	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,239,107 (GRCm39)	E124G	possibly damaging	Het
Gpc6	T	G	14: 117,163,394 (GRCm39)	L16R	probably damaging	Het
Hdac9	A	G	12: 34,443,273 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,679 (GRCm39)	N400S	probably benign	Het
Herc4	G	A	10: 63,152,586 (GRCm39)		probably null	Het
Lama4	A	G	10: 38,932,920 (GRCm39)	R599G	probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Mink1	C	T	11: 70,501,176 (GRCm39)	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921 (GRCm39)	F513S	probably benign	Het
Nfasc	T	A	1: 132,538,186 (GRCm39)	D474V	probably damaging	Het
Nhsl3	C	T	4: 129,117,104 (GRCm39)	R565H	probably damaging	Het
Nos2	T	G	11: 78,831,170 (GRCm39)	F420V	probably damaging	Het
Or52ab2	A	T	7: 102,970,058 (GRCm39)	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,582,904 (GRCm39)	Y670C	probably damaging	Het
Polr1b	A	G	2: 128,944,899 (GRCm39)	E65G	probably damaging	Het
Ppp1r10	T	G	17: 36,238,904 (GRCm39)		probably null	Het
Prag1	C	T	8: 36,606,655 (GRCm39)	R799C	probably damaging	Het
Prb1c	T	A	6: 132,340,008 (GRCm39)		probably null	Het
Ptch1	T	C	13: 63,681,421 (GRCm39)	N485S	probably benign	Het
Rgsl1	T	C	1: 153,683,454 (GRCm39)	T19A	probably damaging	Het
Sgpl1	A	C	10: 60,937,507 (GRCm39)	S507A	probably benign	Het
Sgpp2	A	G	1: 78,393,819 (GRCm39)	D274G	probably benign	Het
Skap1	A	G	11: 96,603,843 (GRCm39)	D211G	possibly damaging	Het
Smc3	A	G	19: 53,627,189 (GRCm39)	T830A	probably benign	Het
Smpd2	G	A	10: 41,364,074 (GRCm39)	T215I	possibly damaging	Het
Sntg2	T	G	12: 30,276,891 (GRCm39)	Y387S	possibly damaging	Het
Sorl1	T	G	9: 41,948,355 (GRCm39)	D810A	probably damaging	Het
Spop	T	A	11: 95,372,909 (GRCm39)	I217N	probably damaging	Het
Stac2	T	C	11: 97,934,345 (GRCm39)	R120G	possibly damaging	Het
Stau1	A	T	2: 166,791,266 (GRCm39)	*496R	probably null	Het
Tmeff2	C	T	1: 50,967,206 (GRCm39)	R34C	probably damaging	Het
Treml2	C	T	17: 48,609,739 (GRCm39)	A57V	possibly damaging	Het
Vmn2r15	T	C	5: 109,445,250 (GRCm39)	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,598,666 (GRCm39)	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,208,295 (GRCm39)	M727I	probably benign	Het
Vwa8	T	A	14: 79,162,702 (GRCm39)	C161S	probably benign	Het

Other mutations in Il12b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01155:Il12b	APN	11	44,294,915 (GRCm39)	missense	probably benign	0.02
IGL01985:Il12b	APN	11	44,298,881 (GRCm39)	nonsense	probably null
IGL02794:Il12b	APN	11	44,298,808 (GRCm39)	missense	probably damaging	1.00
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

2015-12-18