Mutagenetix > Incidental Mutation

Incidental Mutation 'R9097:Il12b'

691425

Institutional Source

Beutler Lab

Gene Symbol

Il12b

Ensembl Gene

ENSMUSG00000004296

Gene Name

interleukin 12b

Synonyms

Il-12b, IL-23 subunit p40, Il-12p40, IL-12 p40

MMRRC Submission

068912-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R9097 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44290890-44304860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44301108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 208 (L208Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099860 (fasta)

Gene Model

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

AlphaFold

P43432

Predicted Effect

probably damaging
Transcript: ENSMUST00000102796
AA Change: L208Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099860
Gene: ENSMUSG00000004296
AA Change: L208Q

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 damaging
Transcript: ENSMUST00000170513
AA Change: L208Q

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125867
Gene: ENSMUSG00000004296
AA Change: L208Q

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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

96% (50/52)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Antxrl	G	A	14: 33,793,660 (GRCm39)	V463I	probably benign	Het
Aox1	T	A	1: 58,326,887 (GRCm39)	L162Q	possibly damaging	Het
Arhgap40	A	T	2: 158,389,584 (GRCm39)	M586L	probably benign	Het
Arnt	G	T	3: 95,397,588 (GRCm39)	S535I	probably benign	Het
Bsx	G	T	9: 40,785,636 (GRCm39)	G55C	probably damaging	Het
Ccdc168	T	C	1: 44,098,049 (GRCm39)	I1016M	possibly damaging	Het
Col9a1	A	T	1: 24,224,207 (GRCm39)	I130F	unknown	Het
Cyp51	G	T	5: 4,149,172 (GRCm39)	T235N	possibly damaging	Het
Depdc1a	T	A	3: 159,204,117 (GRCm39)	D55E	probably benign	Het
Dlc1	A	T	8: 37,080,721 (GRCm39)	I10N	probably benign	Het
Dzank1	G	T	2: 144,316,882 (GRCm39)	L767I	possibly damaging	Het
Eif3k	A	T	7: 28,671,660 (GRCm39)	*193K	probably null	Het
Eprs1	C	A	1: 185,139,303 (GRCm39)	A896E	probably benign	Het
Evc2	T	A	5: 37,550,505 (GRCm39)	F840I	possibly damaging	Het
Fut2	G	T	7: 45,300,375 (GRCm39)	H132Q	probably benign	Het
Gbp11	T	C	5: 105,474,347 (GRCm39)	*443W	probably null	Het
Gimd1	T	A	3: 132,340,661 (GRCm39)	M59K	probably benign	Het
Glis2	A	G	16: 4,429,640 (GRCm39)	T228A	probably damaging	Het
Gm21663	G	C	5: 26,147,167 (GRCm39)	C46W	probably benign	Het
Gpr162	A	G	6: 124,836,570 (GRCm39)	I367T	probably benign	Het
Grik1	G	A	16: 87,732,796 (GRCm39)	T692I		Het
Igf2r	G	T	17: 12,910,100 (GRCm39)	A2043D	probably damaging	Het
Lrrk2	C	T	15: 91,557,459 (GRCm39)		probably benign	Het
Map3k9	T	C	12: 81,819,855 (GRCm39)	D133G	possibly damaging	Het
Mrc2	A	G	11: 105,231,398 (GRCm39)	D777G	probably damaging	Het
Mtrr	A	G	13: 68,723,441 (GRCm39)	L157P	probably benign	Het
Nol4l	C	A	2: 153,312,630 (GRCm39)	R226L	probably damaging	Het
Nsmaf	CAAACTTTTAAACTT	CAAACTT	4: 6,416,543 (GRCm39)		probably null	Het
Or4f7	T	A	2: 111,644,196 (GRCm39)	K292*	probably null	Het
Or51f23c-ps1	A	G	7: 102,431,475 (GRCm39)	H264R	probably damaging	Het
Or5p73	A	T	7: 108,064,815 (GRCm39)	I95F	probably damaging	Het
Or6c7	T	A	10: 129,323,647 (GRCm39)	M256K	possibly damaging	Het
Or7g22	G	A	9: 19,048,670 (GRCm39)	C127Y	probably damaging	Het
Or9g8	T	A	2: 85,607,669 (GRCm39)	V247E	probably damaging	Het
Pkn2	C	T	3: 142,515,249 (GRCm39)	R695Q	probably benign	Het
Ppp1r9a	A	G	6: 4,906,012 (GRCm39)	D189G	probably damaging	Het
Prkca	A	G	11: 107,905,061 (GRCm39)	S226P	probably benign	Het
Ptpru	T	C	4: 131,499,843 (GRCm39)	N1267S	probably damaging	Het
Retnlb	T	A	16: 48,638,980 (GRCm39)		probably benign	Het
Rrp12	A	T	19: 41,878,577 (GRCm39)	D189E	probably benign	Het
Serpinb7	G	A	1: 107,377,907 (GRCm39)	C200Y	probably damaging	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Stk32a	A	T	18: 43,446,497 (GRCm39)	M316L	possibly damaging	Het
Supt6	G	T	11: 78,113,100 (GRCm39)	H948N	probably benign	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Tasp1	A	T	2: 139,725,690 (GRCm39)		probably null	Het
Telo2	T	C	17: 25,324,066 (GRCm39)	T550A	probably benign	Het
Tmem131l	A	T	3: 83,850,122 (GRCm39)	N225K	probably damaging	Het
Tnc	T	C	4: 63,888,622 (GRCm39)	T1724A	possibly damaging	Het
Tyk2	C	A	9: 21,020,072 (GRCm39)	E1029*	probably null	Het
Uhmk1	C	T	1: 170,042,879 (GRCm39)		probably benign	Het
Vav2	G	A	2: 27,181,850 (GRCm39)	R330W	probably damaging	Het
Vmn1r16	A	T	6: 57,300,250 (GRCm39)	I124N	probably benign	Het
Vmn1r181	A	G	7: 23,684,444 (GRCm39)	N303S	probably benign	Het
Vmn1r50	G	A	6: 90,085,022 (GRCm39)	V256I	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
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	44,301,107 (GRCm39)	missense	probably benign	0.03
X0062:Il12b	UTSW	11	44,299,303 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CACCAGGCACTCTATCTCTG -3'
(R):5'- TCCATTAGGTGCCACCATTG -3'

Sequencing Primer
(F):5'- TGCAGAGAAGGTCACACT -3'
(R):5'- ACCATTGGGGCAGGTCTG -3'

Posted On

2021-12-30