Mutagenetix > Incidental Mutation

Incidental Mutation 'R8749:Il12b'

663721

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

068592-MU

Accession Numbers

Essential gene?

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

Stock #

R8749 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44290890-44304860 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 44294864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000099860 (fasta)

Gene Model

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

AlphaFold

P43432

Predicted Effect

not run
Transcript: ENSMUST00000102796
AA Change: M1L

SMART Domains

Protein: ENSMUSP00000099860
Gene: ENSMUSG00000004296
AA Change: M1L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.7%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	C	T	13: 4,320,155 (GRCm39)		probably benign	Het
Ap3b1	T	A	13: 94,664,725 (GRCm39)	M888K	unknown	Het
Arhgap23	T	A	11: 97,391,641 (GRCm39)	V223E	probably damaging	Het
Atm	C	T	9: 53,410,497 (GRCm39)	W1028*	probably null	Het
Atp7b	A	G	8: 22,518,334 (GRCm39)	V168A	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Caskin1	C	T	17: 24,723,774 (GRCm39)	A854V	probably benign	Het
Cdcp1	T	C	9: 123,019,027 (GRCm39)	N84S	probably benign	Het
Cdh20	T	A	1: 110,027,009 (GRCm39)	I475N	probably damaging	Het
Ciz1	A	T	2: 32,255,848 (GRCm39)	Y107F	probably benign	Het
Creb3l4	T	C	3: 90,145,199 (GRCm39)	N318D	probably benign	Het
Dmrt3	G	A	19: 25,588,550 (GRCm39)	A130T	probably benign	Het
Dmxl1	A	T	18: 50,088,937 (GRCm39)	K2805N	probably damaging	Het
Dusp15	T	A	2: 152,788,209 (GRCm39)	I63F	probably damaging	Het
Dync2h1	T	C	9: 7,035,063 (GRCm39)	Q3462R	probably benign	Het
Evpl	A	G	11: 116,120,232 (GRCm39)	C569R	probably benign	Het
Fmnl3	A	T	15: 99,219,322 (GRCm39)	M766K	possibly damaging	Het
G6pc2	A	G	2: 69,057,140 (GRCm39)	N262S	probably damaging	Het
Galk1	A	T	11: 115,899,762 (GRCm39)	L325Q	probably damaging	Het
H3c3	T	C	13: 23,929,108 (GRCm39)	I125V	probably benign	Het
Hr	G	A	14: 70,795,510 (GRCm39)	G352R	probably damaging	Het
Lpar6	A	T	14: 73,476,950 (GRCm39)	M304L	probably benign	Het
Mpeg1	G	A	19: 12,439,291 (GRCm39)	A250T	probably benign	Het
Mtcl3	T	C	10: 29,072,721 (GRCm39)	I671T	possibly damaging	Het
Neb	T	C	2: 52,180,863 (GRCm39)	K1221R	probably benign	Het
Ogfrl1	T	A	1: 23,409,399 (GRCm39)	I276F	probably damaging	Het
Or4f62	A	G	2: 111,986,869 (GRCm39)	D191G	possibly damaging	Het
Or4k37	T	C	2: 111,158,817 (GRCm39)	C18R	possibly damaging	Het
Or4x12-ps1	T	C	2: 89,916,631 (GRCm39)	Y58C	probably damaging	Het
Oxr1	A	G	15: 41,574,260 (GRCm39)	N2S	probably benign	Het
P3h3	G	A	6: 124,822,940 (GRCm39)	R505C	probably damaging	Het
Pcdhb16	A	T	18: 37,612,392 (GRCm39)	I451F	possibly damaging	Het
Pet117	C	A	2: 144,215,122 (GRCm39)	D36E	probably benign	Het
Prf1	T	C	10: 61,138,948 (GRCm39)	V302A	probably damaging	Het
Prkdc	G	A	16: 15,601,029 (GRCm39)	A2897T	possibly damaging	Het
Prkra	A	G	2: 76,460,879 (GRCm39)	L273P	probably damaging	Het
Prr30	T	A	14: 101,436,365 (GRCm39)	T66S	probably benign	Het
Slc29a4	A	G	5: 142,700,819 (GRCm39)	Y188C	probably damaging	Het
Spink5	A	T	18: 44,122,425 (GRCm39)	K297*	probably null	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tmem100	G	A	11: 89,926,574 (GRCm39)	A134T	probably damaging	Het
Tmem132c	A	G	5: 127,437,003 (GRCm39)	D164G	possibly damaging	Het
Tnfsf18	A	G	1: 161,331,047 (GRCm39)	T66A	possibly damaging	Het
Ubr4	C	T	4: 139,129,935 (GRCm39)	T685I	probably damaging	Het
Uck1	T	C	2: 32,146,524 (GRCm39)	Y185C		Het
Umod	T	A	7: 119,070,639 (GRCm39)	I418F	probably benign	Het
Upp1	A	T	11: 9,079,561 (GRCm39)	S41C	probably damaging	Het
Vmn1r168	A	T	7: 23,240,428 (GRCm39)	Y95F	probably benign	Het
Vmn1r180	G	T	7: 23,652,415 (GRCm39)	D193Y	probably damaging	Het
Vmn2r11	A	G	5: 109,195,319 (GRCm39)	V669A	probably damaging	Het
Vmn2r55	T	A	7: 12,385,796 (GRCm39)	Y728F	probably damaging	Het
Vmn2r78	A	G	7: 86,603,513 (GRCm39)	T564A	possibly damaging	Het
Vps13d	T	A	4: 144,865,183 (GRCm39)	N2057I		Het
Wdfy3	C	T	5: 102,030,446 (GRCm39)	R2354Q	probably damaging	Het
Wdr77	T	A	3: 105,866,975 (GRCm39)	C26S	probably damaging	Het
Yif1b	C	T	7: 28,946,690 (GRCm39)	A267V	probably benign	Het
Zfp316	A	G	5: 143,248,565 (GRCm39)	V227A	unknown	Het
Zfp600	T	A	4: 146,133,151 (GRCm39)	H606Q	unknown	Het
Zfp804a	T	C	2: 82,087,919 (GRCm39)	W583R	probably benign	Het
Zfp961	T	C	8: 72,719,686 (GRCm39)	W39R	probably damaging	Het
Zfp990	T	A	4: 145,264,156 (GRCm39)	C385S	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
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
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

Posted On

2021-03-08