Mutagenetix > Incidental Mutation

Incidental Mutation 'R0388:Il12a'

31397

Institutional Source

Beutler Lab

Gene Symbol

Il12a

Ensembl Gene

ENSMUSG00000027776

Gene Name

interleukin 12a

Synonyms

p35, IL-12p35

MMRRC Submission

038594-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0388 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

68597977-68605880 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 68602520 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103446 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029345] [ENSMUST00000029345] [ENSMUST00000107816]

AlphaFold

P43431

Predicted Effect

probably null
Transcript: ENSMUST00000029345

SMART Domains

Protein: ENSMUSP00000029345
Gene: ENSMUSG00000027776

Domain	Start	End	E-Value	Type
low complexity region	1	26	N/A	INTRINSIC
Pfam:IL12	27	236	2.5e-106	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000029345

SMART Domains

Protein: ENSMUSP00000029345
Gene: ENSMUSG00000027776

Domain	Start	End	E-Value	Type
low complexity region	1	26	N/A	INTRINSIC
Pfam:IL12	27	236	2.5e-106	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000107816

SMART Domains

Protein: ENSMUSP00000103446
Gene: ENSMUSG00000027776

Domain	Start	End	E-Value	Type
Pfam:IL12	1	215	6.8e-128	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191910

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192812

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195408

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195517

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.6%
20x: 90.7%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a cytokine that acts on T and natural killer cells, and has a broad array of biological activities. The cytokine is a disulfide-linked heterodimer composed of the 35-kD subunit encoded by this gene, and a 40-kD subunit that is a member of the cytokine receptor family. This cytokine is required for the T-cell-independent induction of interferon (IFN)-gamma, and is important for the differentiation of both Th1 and Th2 cells. The responses of lymphocytes to this cytokine are mediated by the activator of transcription protein STAT4. Nitric oxide synthase 2A (NOS2A/NOS2) is found to be required for the signaling process of this cytokine in innate immunity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null homozygotes have decreased NK cell responses, altered effector T cell differentiation, and increased susceptibility to parasitic infections. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
Acsbg1	T	C	9: 54,516,347 (GRCm39)	K678R	probably damaging	Het
Adgrg6	A	G	10: 14,326,402 (GRCm39)	I410T	probably benign	Het
Afap1l2	A	C	19: 56,905,674 (GRCm39)		probably benign	Het
Aox1	T	C	1: 58,393,565 (GRCm39)	Y1242H	probably damaging	Het
Apoo-ps	T	C	13: 107,551,173 (GRCm39)		noncoding transcript	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Cdh3	C	A	8: 107,265,761 (GRCm39)	T268K	probably damaging	Het
Chd5	T	A	4: 152,456,101 (GRCm39)	H923Q	probably damaging	Het
Chd7	T	C	4: 8,854,560 (GRCm39)	V1967A	probably benign	Het
Cntn3	T	C	6: 102,254,277 (GRCm39)	M222V	probably damaging	Het
Dcaf17	A	G	2: 70,908,915 (GRCm39)	K277R	probably benign	Het
Dmbt1	T	C	7: 130,697,779 (GRCm39)		probably benign	Het
Dmpk	T	A	7: 18,818,002 (GRCm39)		probably benign	Het
Dzank1	A	T	2: 144,318,026 (GRCm39)	L714Q	possibly damaging	Het
Efcab3	A	G	11: 105,000,227 (GRCm39)	D272G	possibly damaging	Het
Erbb2	G	C	11: 98,318,177 (GRCm39)	R471P	possibly damaging	Het
Esf1	T	A	2: 139,962,791 (GRCm39)	Y760F	possibly damaging	Het
Fanci	C	A	7: 79,089,378 (GRCm39)	T938K	probably benign	Het
Gnai3	A	G	3: 108,023,073 (GRCm39)		probably benign	Het
Hspg2	T	A	4: 137,238,469 (GRCm39)	C319S	probably damaging	Het
Inpp4a	A	G	1: 37,435,241 (GRCm39)	D837G	probably damaging	Het
Kcnj5	T	A	9: 32,229,159 (GRCm39)	E13V	probably damaging	Het
Kcnq3	T	A	15: 65,871,887 (GRCm39)	Y594F	probably benign	Het
Kif16b	T	C	2: 142,582,857 (GRCm39)	E556G	probably damaging	Het
Kif28	T	C	1: 179,567,654 (GRCm39)	I39V	possibly damaging	Het
Lgi2	T	C	5: 52,711,891 (GRCm39)	E143G	probably damaging	Het
Mast1	T	G	8: 85,642,166 (GRCm39)	I1063L	probably benign	Het
Med12l	T	C	3: 59,000,925 (GRCm39)		probably benign	Het
Mmp19	G	T	10: 128,634,752 (GRCm39)	R456L	probably benign	Het
Mon1b	T	A	8: 114,365,710 (GRCm39)	V346E	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Mrgpra9	A	T	7: 46,902,542 (GRCm39)	M1K	probably null	Het
Mycbp2	A	T	14: 103,394,103 (GRCm39)	H2819Q	probably benign	Het
Nav1	A	C	1: 135,376,655 (GRCm39)		probably benign	Het
Neurl4	T	C	11: 69,802,559 (GRCm39)		probably benign	Het
Ntng2	G	C	2: 29,097,438 (GRCm39)	P341R	probably damaging	Het
Oas1d	A	T	5: 121,055,091 (GRCm39)	Y221F	probably damaging	Het
Or1j19	C	A	2: 36,676,874 (GRCm39)	D112E	probably benign	Het
Or1l4	A	C	2: 37,092,196 (GRCm39)		probably null	Het
Or5al6	A	G	2: 85,976,974 (GRCm39)	Y35H	probably damaging	Het
Osbpl8	A	G	10: 111,108,143 (GRCm39)	M380V	probably benign	Het
Pank1	T	C	19: 34,799,106 (GRCm39)		probably benign	Het
Parn	T	C	16: 13,472,340 (GRCm39)	D169G	possibly damaging	Het
Pknox1	T	A	17: 31,822,166 (GRCm39)	I311N	probably damaging	Het
Pprc1	T	C	19: 46,051,214 (GRCm39)	V248A	possibly damaging	Het
Prkcq	T	C	2: 11,259,045 (GRCm39)	C322R	probably benign	Het
Ptpn13	T	A	5: 103,702,928 (GRCm39)	I1298N	probably benign	Het
Rab11fip3	A	G	17: 26,288,046 (GRCm39)	S36P	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Sass6	C	A	3: 116,400,957 (GRCm39)		probably benign	Het
Shroom3	G	A	5: 93,099,152 (GRCm39)	G1463D	probably benign	Het
Slc35d1	A	T	4: 103,042,084 (GRCm39)	Y249*	probably null	Het
Slc9a3	C	T	13: 74,269,655 (GRCm39)	P8S	unknown	Het
Slc9a9	T	A	9: 94,821,616 (GRCm39)		probably null	Het
Sting1	A	G	18: 35,868,164 (GRCm39)		probably null	Het
Syne2	T	A	12: 76,033,749 (GRCm39)	M3666K	probably benign	Het
Synpo2	A	G	3: 122,873,546 (GRCm39)	V1140A	probably benign	Het
Thada	A	G	17: 84,538,524 (GRCm39)	F1495L	probably benign	Het
Timeless	A	G	10: 128,077,294 (GRCm39)		probably null	Het
Tlr6	G	T	5: 65,112,548 (GRCm39)	H120N	possibly damaging	Het
Tns3	T	C	11: 8,395,703 (GRCm39)	I1234V	probably benign	Het
Ttll9	A	G	2: 152,842,099 (GRCm39)	S318G	probably benign	Het
Vps13c	T	C	9: 67,830,197 (GRCm39)		probably benign	Het
Zfp933	T	C	4: 147,910,899 (GRCm39)	I232M	probably benign	Het
Zfyve27	T	C	19: 42,178,024 (GRCm39)	S382P	probably damaging	Het

Other mutations in Il12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Il12a	APN	3	68,598,888 (GRCm39)	missense	possibly damaging	0.96
IGL01820:Il12a	APN	3	68,599,495 (GRCm39)	splice site	probably benign
IGL01989:Il12a	APN	3	68,598,909 (GRCm39)	splice site	probably benign
bakers_dozen	UTSW	3	68,605,320 (GRCm39)	frame shift	probably null
R0646:Il12a	UTSW	3	68,605,223 (GRCm39)	splice site	probably benign
R1083:Il12a	UTSW	3	68,602,666 (GRCm39)	missense	probably damaging	1.00
R1588:Il12a	UTSW	3	68,602,896 (GRCm39)	missense	probably benign	0.04
R2240:Il12a	UTSW	3	68,601,517 (GRCm39)	nonsense	probably null
R2909:Il12a	UTSW	3	68,605,320 (GRCm39)	frame shift	probably null
R2925:Il12a	UTSW	3	68,605,320 (GRCm39)	frame shift	probably null
R3696:Il12a	UTSW	3	68,605,320 (GRCm39)	frame shift	probably null
R3697:Il12a	UTSW	3	68,605,320 (GRCm39)	frame shift	probably null
R3698:Il12a	UTSW	3	68,605,320 (GRCm39)	frame shift	probably null
R4332:Il12a	UTSW	3	68,602,594 (GRCm39)	intron	probably benign
R5809:Il12a	UTSW	3	68,602,595 (GRCm39)	intron	probably benign
R6279:Il12a	UTSW	3	68,605,312 (GRCm39)	missense	probably damaging	0.96
R6305:Il12a	UTSW	3	68,601,511 (GRCm39)	missense	possibly damaging	0.80
R6847:Il12a	UTSW	3	68,602,899 (GRCm39)	missense	probably damaging	1.00
R7751:Il12a	UTSW	3	68,605,235 (GRCm39)	missense	probably damaging	1.00
R8188:Il12a	UTSW	3	68,598,872 (GRCm39)	missense	unknown
R8339:Il12a	UTSW	3	68,599,438 (GRCm39)	nonsense	probably null
R9145:Il12a	UTSW	3	68,598,875 (GRCm39)	missense	unknown
RF003:Il12a	UTSW	3	68,602,562 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGCCACCCAAAAGCAGTTATGATGG -3'
(R):5'- AGGACCCTGCTGCATTTCAGAAAAG -3'

Sequencing Primer
(F):5'- gcctttaatctcagcacttgatag -3'
(R):5'- GTGATGTGGCTTACCATCATCAAAG -3'

Posted On

2013-04-24