Mutagenetix > Incidental Mutation

Incidental Mutation 'R5381:Il12b'

424735

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

042956-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.364) question?

Stock #

R5381 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44290890-44304860 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44298699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 51 (D51E)

Ref Sequence

ENSEMBL: ENSMUSP00000125867 (fasta)

Gene Model

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

AlphaFold

P43432

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102796
AA Change: D51E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099860
Gene: ENSMUSG00000004296
AA Change: D51E

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

possibly damaging
Transcript: ENSMUST00000170513
AA Change: D51E

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125867
Gene: ENSMUSG00000004296
AA Change: D51E

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

Meta Mutation Damage Score

0.0808

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (74/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700086D15Rik	G	T	11: 65,044,137 (GRCm39)	S19*	probably null	Het
4930432E11Rik	A	T	7: 29,262,393 (GRCm39)		noncoding transcript	Het
Acvr1c	T	C	2: 58,177,747 (GRCm39)	T241A	probably damaging	Het
Ankmy1	T	C	1: 92,804,284 (GRCm39)	T900A	probably benign	Het
Anp32a	A	C	9: 62,279,459 (GRCm39)	E107A	probably damaging	Het
Arhgef40	T	C	14: 52,229,306 (GRCm39)	I623T	probably damaging	Het
Camsap3	T	A	8: 3,653,812 (GRCm39)	I483N	probably damaging	Het
Card9	G	A	2: 26,248,895 (GRCm39)	L85F	probably damaging	Het
Cbfa2t2	T	G	2: 154,365,849 (GRCm39)	V353G	probably damaging	Het
Ccdc166	A	T	15: 75,852,701 (GRCm39)	L422*	probably null	Het
Ccdc198	T	C	14: 49,470,364 (GRCm39)	D185G	probably damaging	Het
Ccdc73	A	T	2: 104,820,270 (GRCm39)	N416Y	probably damaging	Het
Celsr2	A	T	3: 108,310,073 (GRCm39)	D1552E	probably damaging	Het
Ces1b	A	T	8: 93,791,647 (GRCm39)	N317K	probably benign	Het
Col6a3	T	C	1: 90,703,334 (GRCm39)	R2471G	unknown	Het
Crocc	C	T	4: 140,756,622 (GRCm39)	R1165H	possibly damaging	Het
Csmd3	T	A	15: 47,604,611 (GRCm39)	Y1955F	probably benign	Het
Ctbp1	A	T	5: 33,407,034 (GRCm39)	D232E	probably benign	Het
Cuedc1	T	A	11: 88,078,812 (GRCm39)		probably null	Het
Dctd	C	T	8: 48,590,449 (GRCm39)		probably benign	Het
Dusp6	G	A	10: 99,102,129 (GRCm39)	V226I	possibly damaging	Het
Gpr152	A	G	19: 4,192,516 (GRCm39)	E19G	probably damaging	Het
Ighv16-1	T	C	12: 114,032,593 (GRCm39)	T70A	probably benign	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Il9r	T	G	11: 32,140,715 (GRCm39)	D435A	probably benign	Het
Jakmip2	T	C	18: 43,715,025 (GRCm39)	D167G	probably damaging	Het
Klrd1	A	G	6: 129,572,397 (GRCm39)	D63G	possibly damaging	Het
Lactb	A	G	9: 66,863,297 (GRCm39)	L439P	probably damaging	Het
Laptm5	T	C	4: 130,660,969 (GRCm39)		probably benign	Het
Lgals1	A	G	15: 78,814,223 (GRCm39)	D96G	probably benign	Het
Lrp8	A	T	4: 107,726,307 (GRCm39)	H871L	probably damaging	Het
Mfap4	A	T	11: 61,378,756 (GRCm39)	I235F	probably benign	Het
Muc6	G	A	7: 141,217,836 (GRCm39)	T2279I	possibly damaging	Het
Nlrp4b	T	A	7: 10,449,172 (GRCm39)	Y91*	probably null	Het
Osbp2	A	G	11: 3,655,593 (GRCm39)	Y383H	probably benign	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Palb2	G	T	7: 121,727,636 (GRCm39)	T78K	probably benign	Het
Panx2	G	T	15: 88,944,433 (GRCm39)	V53L	probably damaging	Het
Pip4p1	T	C	14: 51,166,495 (GRCm39)	E161G	probably benign	Het
Pitx1	T	C	13: 55,973,892 (GRCm39)	Y313C	probably damaging	Het
Pjvk	A	G	2: 76,481,904 (GRCm39)		probably null	Het
Pnldc1	T	G	17: 13,109,283 (GRCm39)	K439T	probably benign	Het
Ppp4r4	A	C	12: 103,559,357 (GRCm39)	T513P	probably benign	Het
Pram1	A	T	17: 33,860,600 (GRCm39)	Q389L	probably damaging	Het
Prg4	T	C	1: 150,330,204 (GRCm39)		probably benign	Het
Prkch	C	A	12: 73,738,366 (GRCm39)	R158S	probably damaging	Het
Ptpn7	A	T	1: 135,070,906 (GRCm39)	M332L	probably damaging	Het
Rad51c	A	T	11: 87,288,459 (GRCm39)	D241E	probably benign	Het
Rara	T	G	11: 98,862,410 (GRCm39)	I270M	possibly damaging	Het
Ryr2	T	A	13: 11,571,544 (GRCm39)	D4898V	probably damaging	Het
Sec31b	C	T	19: 44,522,810 (GRCm39)	G218S	probably damaging	Het
Slc9a1	T	A	4: 133,149,382 (GRCm39)	L736Q	probably damaging	Het
Slco2a1	A	T	9: 102,945,213 (GRCm39)	D196V	probably damaging	Het
Sp3	C	A	2: 72,800,910 (GRCm39)	A368S	probably benign	Het
Stk24	A	T	14: 121,531,645 (GRCm39)	L337Q	possibly damaging	Het
Tbc1d13	A	G	2: 30,027,379 (GRCm39)	T96A	probably benign	Het
Tm2d3	G	A	7: 65,351,420 (GRCm39)	G225S	probably damaging	Het
Urb2	T	C	8: 124,756,651 (GRCm39)	V786A	probably benign	Het
Usp32	C	T	11: 84,949,953 (GRCm39)		probably benign	Het
Usp54	C	T	14: 20,636,144 (GRCm39)	G300D	probably damaging	Het
Vmn1r124	T	A	7: 20,994,323 (GRCm39)	N74Y	probably damaging	Het
Vmn1r77	T	A	7: 11,775,952 (GRCm39)	C175S	probably damaging	Het
Vmn2r62	G	T	7: 42,437,219 (GRCm39)	Q422K	probably benign	Het
Vmn2r76	A	G	7: 85,874,496 (GRCm39)	F827S	probably damaging	Het
Vps52	A	G	17: 34,177,275 (GRCm39)	S106G	possibly damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zic2	A	G	14: 122,713,227 (GRCm39)	N47S	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- GACTCGGTGGCAGCTATAGAAC -3'
(R):5'- TTCTTGTGGAGCAGCAGATG -3'

Sequencing Primer
(F):5'- AACTCCTGTGAGCTATGACG -3'
(R):5'- CAGCAGATGTGAGTGGCTC -3'

Posted On

2016-08-04