Mutagenetix > Incidental Mutation

Incidental Mutation 'R7751:Il12a'

597208

Institutional Source

Beutler Lab

Gene Symbol

Il12a

Ensembl Gene

ENSMUSG00000027776

Gene Name

interleukin 12a

Synonyms

IL-12p35, p35

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7751 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

68690644-68698547 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 68697902 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 167 (N167I)

Ref Sequence

ENSEMBL: ENSMUSP00000103446 (fasta)

Gene Model

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

AlphaFold

P43431

Predicted Effect

probably damaging
Transcript: ENSMUST00000029345
AA Change: N188I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029345
Gene: ENSMUSG00000027776
AA Change: N188I

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 damaging
Transcript: ENSMUST00000107816
AA Change: N167I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000103446
Gene: ENSMUSG00000027776
AA Change: N167I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (82/84)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	A	T	2: 91,383,773	L79H	probably damaging	Het
2810474O19Rik	A	G	6: 149,325,438		probably benign	Het
Abca15	A	T	7: 120,365,821	I769F	possibly damaging	Het
Ackr1	A	C	1: 173,332,212	W247G	probably damaging	Het
Adgrl4	G	A	3: 151,492,309	G69S	probably damaging	Het
Agrn	C	T	4: 156,176,429	S710N	probably damaging	Het
Aox3	A	G	1: 58,179,335	M1103V	probably benign	Het
Asb18	G	A	1: 89,968,484	A278V	probably benign	Het
B3gat2	A	G	1: 23,762,864	E77G	probably benign	Het
C87499	T	C	4: 88,629,119	D192G	probably benign	Het
Camta1	T	C	4: 151,148,406		probably null	Het
Cbll1	A	T	12: 31,487,580	I392N	probably damaging	Het
Ccdc113	A	G	8: 95,538,201	D113G	possibly damaging	Het
Cd79a	T	C	7: 24,899,667	F148L	probably benign	Het
Chad	T	A	11: 94,565,173	C26S	probably damaging	Het
Cog4	T	C	8: 110,880,968	F696L	probably damaging	Het
Csf2rb	T	G	15: 78,341,639	S303R	probably damaging	Het
Cubn	C	T	2: 13,360,365	G1621R	probably damaging	Het
Dennd4c	T	A	4: 86,828,942	N1454K	probably benign	Het
Dennd5b	T	C	6: 149,017,106	I853V	probably benign	Het
Dopey1	A	T	9: 86,507,730	D561V	probably benign	Het
Dpysl4	A	G	7: 139,089,540	I45V	probably benign	Het
Ect2l	A	C	10: 18,169,405	S301A	possibly damaging	Het
Elf2	A	G	3: 51,257,614	V323A	probably damaging	Het
Epcam	C	T	17: 87,640,476	R125*	probably null	Het
Ephb4	T	C	5: 137,365,675	V612A	probably damaging	Het
Erich3	C	T	3: 154,763,789	R1293C	unknown	Het
F830045P16Rik	C	A	2: 129,460,447	L408F	probably damaging	Het
Fam198a	G	A	9: 121,964,821	V14I	probably benign	Het
Gm13102	T	C	4: 144,109,217	I485T	probably benign	Het
Gm14548	T	A	7: 3,895,604	I282F	probably damaging	Het
Gm16494	A	T	17: 47,016,874	L28*	probably null	Het
Grin2c	A	G	11: 115,253,870	V610A	probably damaging	Het
Hacd2	T	A	16: 35,102,064	Y208N	probably damaging	Het
Hlf	A	T	11: 90,387,995	F81Y	probably damaging	Het
Igfbp7	G	A	5: 77,351,287	A257V	probably damaging	Het
Il1r2	G	A	1: 40,123,211	C338Y	probably damaging	Het
Irf2bpl	G	T	12: 86,883,715	H61Q	probably damaging	Het
Kansl1	A	G	11: 104,424,064	F383L	probably benign	Het
Kcnh8	A	G	17: 52,961,843	T863A	probably damaging	Het
Klhl36	C	A	8: 119,869,658	Q33K	probably benign	Het
Lrig2	A	T	3: 104,494,669	Y113*	probably null	Het
Lrrc36	T	A	8: 105,452,035	S287R	possibly damaging	Het
Lrrc6	T	C	15: 66,449,563	E243G	probably benign	Het
Mr1	A	T	1: 155,129,308	Y329N	probably damaging	Het
Muc5ac	G	C	7: 141,809,303	G2117A	unknown	Het
Nectin4	G	A	1: 171,383,758		probably null	Het
Nsrp1	A	G	11: 77,049,271		probably null	Het
Olfr1012	A	G	2: 85,753,492	T44A	probably benign	Het
Olfr380	A	T	11: 73,453,546	I222N	possibly damaging	Het
Pcdh8	A	T	14: 79,770,703	I140N	probably damaging	Het
Pdzd8	A	G	19: 59,344,776	V271A	probably damaging	Het
Pex3	T	A	10: 13,527,806	I324L	possibly damaging	Het
Pitpnm1	T	A	19: 4,103,470	F209I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Pkhd1	T	A	1: 20,200,925	T3135S	probably damaging	Het
Prdm16	T	C	4: 154,328,299	N1082S	probably damaging	Het
Psmd12	A	T	11: 107,479,613	I13F	possibly damaging	Het
Ptgs2	A	T	1: 150,104,507	I399F	probably benign	Het
Rasa3	A	T	8: 13,568,708	S830T	probably benign	Het
Rasgef1c	A	T	11: 49,970,293	R362W	probably damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rnf217	C	A	10: 31,517,419	G389W	probably damaging	Het
Sec16b	A	T	1: 157,558,060	D675V	probably damaging	Het
Serpinb12	A	G	1: 106,949,671	Y137C	probably damaging	Het
Slc2a5	T	A	4: 150,143,134	I470N	probably damaging	Het
Slc5a1	T	C	5: 33,133,417	I115T	possibly damaging	Het
Slco1a4	A	T	6: 141,834,687	S126T	possibly damaging	Het
St6galnac2	T	C	11: 116,677,584	D351G	probably damaging	Het
Stat4	G	A	1: 52,082,552	V357M	possibly damaging	Het
Taf4	G	A	2: 179,932,029	T682M	probably damaging	Het
Tdrd9	T	A	12: 111,992,548	C139S	probably benign	Het
Tmed9	G	A	13: 55,593,241	R23Q	not run	Het
Tmem150a	A	C	6: 72,359,045	H205P	probably damaging	Het
Tns2	C	A	15: 102,109,728	L350I	probably benign	Het
Tpr	A	G	1: 150,419,895	T964A	probably benign	Het
Traf3ip1	G	T	1: 91,494,757		probably benign	Het
Trem2	G	T	17: 48,346,539		probably benign	Het
Ttc14	G	A	3: 33,809,441	G666D	unknown	Het
Ulk1	T	C	5: 110,809,212	D40G	probably damaging	Het
Vmn1r30	A	G	6: 58,435,412	V145A	probably benign	Het
Vmn1r79	C	T	7: 12,176,835	Q215*	probably null	Het
Wnk2	G	A	13: 49,078,017	T16I	unknown	Het
Yme1l1	T	C	2: 23,187,844		probably null	Het
Zbtb16	T	A	9: 48,743,469	H454L	probably damaging	Het
Zkscan5	A	C	5: 145,220,866	H726P	probably damaging	Het
Zrsr1	A	G	11: 22,973,595	Q123R	possibly damaging	Het

Other mutations in Il12a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Il12a	APN	3	68691555	missense	possibly damaging	0.96
IGL01820:Il12a	APN	3	68692162	splice site	probably benign
IGL01989:Il12a	APN	3	68691576	splice site	probably benign
bakers_dozen	UTSW	3	68697987	frame shift	probably null
R0388:Il12a	UTSW	3	68695187	splice site	probably null
R0646:Il12a	UTSW	3	68697890	splice site	probably benign
R1083:Il12a	UTSW	3	68695333	missense	probably damaging	1.00
R1588:Il12a	UTSW	3	68695563	missense	probably benign	0.04
R2240:Il12a	UTSW	3	68694184	nonsense	probably null
R2909:Il12a	UTSW	3	68697987	frame shift	probably null
R2925:Il12a	UTSW	3	68697987	frame shift	probably null
R3696:Il12a	UTSW	3	68697987	frame shift	probably null
R3697:Il12a	UTSW	3	68697987	frame shift	probably null
R3698:Il12a	UTSW	3	68697987	frame shift	probably null
R4332:Il12a	UTSW	3	68695261	intron	probably benign
R5809:Il12a	UTSW	3	68695262	intron	probably benign
R6279:Il12a	UTSW	3	68697979	missense	probably damaging	0.96
R6305:Il12a	UTSW	3	68694178	missense	possibly damaging	0.80
R6847:Il12a	UTSW	3	68695566	missense	probably damaging	1.00
R8188:Il12a	UTSW	3	68691539	missense	unknown
R8339:Il12a	UTSW	3	68692105	nonsense	probably null
R9145:Il12a	UTSW	3	68691542	missense	unknown
RF003:Il12a	UTSW	3	68695229	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTCACAAAAGAGTATTTCTTCCC -3'
(R):5'- TGAAGGAGCTTAAGGCCCAC -3'

Sequencing Primer
(F):5'- AAAAGAGTATTTCTTCCCTCTTTTCC -3'
(R):5'- GGCCAAGACCACCTGACTCTTATG -3'

Posted On

2019-11-26