Mutagenetix > Incidental Mutation

Incidental Mutation 'R0226:Tnfaip3'

33937

Institutional Source

Beutler Lab

Gene Symbol

Tnfaip3

Ensembl Gene

ENSMUSG00000019850

Gene Name

tumor necrosis factor, alpha-induced protein 3

Synonyms

A20, zinc finger protein A20, Tnfip3

MMRRC Submission

038471-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0226 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

19000910-19015657 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19002747 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 771 (K771R)

Ref Sequence

ENSEMBL: ENSMUSP00000101167 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019997] [ENSMUST00000105527]

AlphaFold

Q60769

Predicted Effect

probably damaging
Transcript: ENSMUST00000019997
AA Change: K771R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019997
Gene: ENSMUSG00000019850
AA Change: K771R

Domain	Start	End	E-Value	Type
Pfam:OTU	98	257	1.2e-30	PFAM
ZnF_A20	384	409	8.06e-9	SMART
low complexity region	425	436	N/A	INTRINSIC
ZnF_A20	467	492	3.76e-9	SMART
ZnF_A20	503	526	4.74e-6	SMART
low complexity region	528	543	N/A	INTRINSIC
ZnF_A20	589	614	6.01e-8	SMART
ZnF_A20	639	664	1.56e-6	SMART
ZnF_A20	698	723	1.68e-6	SMART
ZnF_A20	744	769	2.81e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105527
AA Change: K771R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101167
Gene: ENSMUSG00000019850
AA Change: K771R

Domain	Start	End	E-Value	Type
Pfam:OTU	98	257	7.8e-34	PFAM
ZnF_A20	384	409	8.06e-9	SMART
low complexity region	425	436	N/A	INTRINSIC
ZnF_A20	467	492	3.76e-9	SMART
ZnF_A20	503	526	4.74e-6	SMART
low complexity region	528	543	N/A	INTRINSIC
ZnF_A20	589	614	6.01e-8	SMART
ZnF_A20	639	664	1.56e-6	SMART
ZnF_A20	698	723	1.68e-6	SMART
ZnF_A20	744	769	2.81e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154749

Meta Mutation Damage Score

0.3505

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.4%

Validation Efficiency

100% (98/98)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous null mice display runting, severe multi-organ inflammation, hypersensitivity to lipopolysaccharide and TNF, and premature death. Older mice homozygous for point mutations that disrupt deubiquitinating activity develop splenomegaly and show an increased number of myeloid cells. [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Targeted, other(2)

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700129C05Rik	G	T	14: 59,142,120	T54K	possibly damaging	Het
2210408I21Rik	A	T	13: 77,303,425	E876V	possibly damaging	Het
Aasdh	A	T	5: 76,902,002	L49Q	probably damaging	Het
Abca8b	T	C	11: 109,957,018		probably null	Het
Ablim1	A	T	19: 57,043,870	L556Q	probably damaging	Het
Afdn	A	G	17: 13,899,146	T1700A	probably benign	Het
Agl	G	A	3: 116,752,071	R1359C	probably damaging	Het
Agpat3	T	A	10: 78,278,029	H275L	possibly damaging	Het
Ahcyl1	A	T	3: 107,670,270	C180*	probably null	Het
Aim2	A	G	1: 173,462,333		probably benign	Het
Angpt1	T	C	15: 42,468,235	N320S	probably benign	Het
Ankrd52	T	A	10: 128,389,858		probably null	Het
Ap1g1	C	T	8: 109,855,062	S654L	probably benign	Het
Bpifa1	T	A	2: 154,146,057	S173R	probably benign	Het
Brd8	T	C	18: 34,603,894		probably benign	Het
Btbd9	C	T	17: 30,274,942	D492N	possibly damaging	Het
C1qtnf2	A	G	11: 43,490,843	T161A	probably benign	Het
Car6	T	C	4: 150,187,508	Y228C	probably damaging	Het
Ccdc149	A	G	5: 52,400,217	L273P	probably damaging	Het
Cit	G	A	5: 115,984,840	R1405Q	probably damaging	Het
Cox17	T	C	16: 38,349,276	L48P	probably damaging	Het
Cttn	A	G	7: 144,441,852		probably benign	Het
Cyp4f18	T	C	8: 71,989,775		probably benign	Het
Dtnbp1	A	G	13: 44,923,193	L175P	probably damaging	Het
Efl1	T	C	7: 82,693,011		probably benign	Het
Fbn1	C	T	2: 125,320,910	R2152Q	possibly damaging	Het
Fignl1	A	T	11: 11,801,061	S665T	probably benign	Het
Gm884	A	T	11: 103,603,241	F663L	probably benign	Het
Gm9843	A	T	16: 76,403,561		noncoding transcript	Het
Gpr155	C	T	2: 73,367,592	V395I	probably benign	Het
Greb1l	T	C	18: 10,522,076		probably benign	Het
Hdgfl1	A	T	13: 26,769,996	H31Q	probably benign	Het
Heatr1	T	C	13: 12,410,562	S628P	probably damaging	Het
Hivep2	A	G	10: 14,129,712	T685A	probably benign	Het
Hmgcl	T	G	4: 135,958,728	V168G	probably damaging	Het
Itch	T	C	2: 155,199,394	I454T	probably benign	Het
Itih2	T	C	2: 10,115,299	D309G	possibly damaging	Het
Kcmf1	T	C	6: 72,842,952	I304V	probably benign	Het
Kcnh1	G	A	1: 192,276,804	W222*	probably null	Het
Kcnh1	G	T	1: 192,276,805	W222C	probably damaging	Het
Kif24	T	A	4: 41,414,939	K287*	probably null	Het
Lrig3	A	G	10: 125,972,117		probably benign	Het
Lrp2	A	T	2: 69,537,563	C202S	probably null	Het
Lrrn2	A	G	1: 132,937,820	N208D	probably damaging	Het
Mcm5	C	T	8: 75,126,252	T664I	possibly damaging	Het
Mfsd10	A	G	5: 34,634,446	L365S	probably benign	Het
Mfsd6	A	G	1: 52,658,690		probably benign	Het
Mgat4e	A	G	1: 134,541,103	V401A	probably benign	Het
Mllt3	C	A	4: 87,840,732	V360L	probably benign	Het
Mrm1	G	A	11: 84,819,170	A68V	possibly damaging	Het
Myo19	A	G	11: 84,897,732		probably benign	Het
Myo3b	A	G	2: 70,217,166	T311A	probably benign	Het
Myo5b	T	C	18: 74,742,180	F1552L	probably benign	Het
Myo7b	C	T	18: 31,972,896	V1353I	probably benign	Het
Myo9b	T	C	8: 71,353,832	S1512P	probably damaging	Het
Nanos3	C	T	8: 84,176,134	R133Q	probably damaging	Het
Osbpl3	A	G	6: 50,353,008	W63R	probably damaging	Het
Pcdh17	T	C	14: 84,448,201	S703P	probably damaging	Het
Pclo	T	C	5: 14,765,223	I1231T	probably damaging	Het
Pex16	A	C	2: 92,375,687		probably benign	Het
Pfkl	T	C	10: 77,992,534	N399S	probably benign	Het
Pkhd1l1	G	A	15: 44,526,784	R1432K	possibly damaging	Het
Prdm1	T	A	10: 44,456,696	T106S	probably benign	Het
Prrc1	A	G	18: 57,363,291	M105V	probably benign	Het
Psg26	A	G	7: 18,483,958	C12R	possibly damaging	Het
Rnf43	A	T	11: 87,731,437	S455C	probably damaging	Het
Ryr2	T	C	13: 11,772,556	K977R	probably damaging	Het
Sart1	C	T	19: 5,381,122		probably benign	Het
Sec14l5	A	G	16: 5,180,303	S509G	probably benign	Het
Sin3b	A	T	8: 72,744,508	E361V	probably benign	Het
Slc35e3	C	T	10: 117,740,890	E179K	possibly damaging	Het
Sntb2	T	C	8: 107,001,583	S388P	probably damaging	Het
Srms	A	G	2: 181,212,382	S131P	probably benign	Het
Stxbp5	T	C	10: 9,866,698		probably benign	Het
Taar2	T	C	10: 23,941,063	V167A	probably damaging	Het
Taar2	G	A	10: 23,941,495	R311H	probably benign	Het
Thsd7a	A	G	6: 12,321,900	Y1516H	possibly damaging	Het
Tlk1	T	A	2: 70,714,169		probably benign	Het
Tmem173	A	T	18: 35,739,088	F120L	probably benign	Het
Treml1	C	T	17: 48,360,458	L124F	probably damaging	Het
Ttn	G	T	2: 76,780,797	Q9137K	possibly damaging	Het
Unkl	T	A	17: 25,230,711	I469N	probably damaging	Het
Vmn1r173	G	T	7: 23,703,083	V248L	possibly damaging	Het
Vps35	T	C	8: 85,273,575	Q474R	probably damaging	Het
Wdr17	T	A	8: 54,663,008	T580S	probably benign	Het
Xpnpep1	T	C	19: 53,010,152	K222E	probably benign	Het
Ylpm1	A	G	12: 85,049,737	T1446A	probably benign	Het
Zfp277	A	G	12: 40,364,162	L228S	possibly damaging	Het
Zfp941	T	A	7: 140,813,275	K57M	probably damaging	Het
Zmpste24	A	T	4: 121,081,209	S244R	probably benign	Het

Other mutations in Tnfaip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
lasvegas	APN	10	19010758	unclassified	probably benign
IGL00840:Tnfaip3	APN	10	19005126	missense	probably damaging	1.00
IGL00966:Tnfaip3	APN	10	19005137	missense	probably damaging	1.00
IGL01080:Tnfaip3	APN	10	19011655	missense	probably benign	0.03
IGL01736:Tnfaip3	APN	10	19006901	missense	probably damaging	1.00
IGL02318:Tnfaip3	APN	10	19004467	missense	probably benign	0.04
IGL02703:Tnfaip3	APN	10	19007032	missense	probably damaging	0.98
IGL03032:Tnfaip3	APN	10	19004609	missense	probably benign
IGL03331:Tnfaip3	APN	10	19011601	missense	possibly damaging	0.63
IGL03389:Tnfaip3	APN	10	19004987	missense	probably benign	0.03
PIT4243001:Tnfaip3	UTSW	10	19011574	missense	probably damaging	1.00
PIT4480001:Tnfaip3	UTSW	10	19007323	missense	probably benign
R0044:Tnfaip3	UTSW	10	19011626	missense	probably damaging	0.98
R0044:Tnfaip3	UTSW	10	19011626	missense	probably damaging	0.98
R0056:Tnfaip3	UTSW	10	19005293	missense	probably damaging	1.00
R0195:Tnfaip3	UTSW	10	19005713	missense	probably damaging	1.00
R0369:Tnfaip3	UTSW	10	19006912	nonsense	probably null
R0744:Tnfaip3	UTSW	10	19002949	missense	probably benign	0.09
R0833:Tnfaip3	UTSW	10	19002949	missense	probably benign	0.09
R1469:Tnfaip3	UTSW	10	19008269	missense	probably damaging	1.00
R1469:Tnfaip3	UTSW	10	19008269	missense	probably damaging	1.00
R1876:Tnfaip3	UTSW	10	19004934	missense	possibly damaging	0.81
R1902:Tnfaip3	UTSW	10	19008189	missense	probably benign	0.19
R1903:Tnfaip3	UTSW	10	19008189	missense	probably benign	0.19
R1922:Tnfaip3	UTSW	10	19003607	missense	possibly damaging	0.51
R1973:Tnfaip3	UTSW	10	19004504	missense	probably damaging	0.98
R2040:Tnfaip3	UTSW	10	19008152	missense	possibly damaging	0.89
R2513:Tnfaip3	UTSW	10	19005659	missense	probably benign	0.00
R2936:Tnfaip3	UTSW	10	19011609	missense	probably damaging	1.00
R3607:Tnfaip3	UTSW	10	19005602	missense	probably damaging	1.00
R4386:Tnfaip3	UTSW	10	19007010	missense	probably damaging	1.00
R4483:Tnfaip3	UTSW	10	19011627	missense	probably damaging	1.00
R4673:Tnfaip3	UTSW	10	19011832	intron	probably benign
R4879:Tnfaip3	UTSW	10	19005573	missense	probably benign	0.03
R5082:Tnfaip3	UTSW	10	19005284	missense	probably damaging	1.00
R5524:Tnfaip3	UTSW	10	19008195	missense	probably damaging	0.98
R6559:Tnfaip3	UTSW	10	19007248	missense	probably damaging	1.00
R6776:Tnfaip3	UTSW	10	19005576	missense	probably benign	0.02
R6853:Tnfaip3	UTSW	10	19003751	missense	probably benign
R6891:Tnfaip3	UTSW	10	19011669	missense	probably damaging	1.00
R7144:Tnfaip3	UTSW	10	19007281	missense	probably benign	0.00
R7693:Tnfaip3	UTSW	10	19004780	missense	probably benign
R8155:Tnfaip3	UTSW	10	19004691	missense	possibly damaging	0.78
R8377:Tnfaip3	UTSW	10	19011510	missense	probably damaging	1.00
R8552:Tnfaip3	UTSW	10	19004465	missense	probably damaging	0.98
R8552:Tnfaip3	UTSW	10	19004666	missense	probably damaging	1.00
R8827:Tnfaip3	UTSW	10	19005047	missense	probably damaging	0.99
R9391:Tnfaip3	UTSW	10	19007327	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTGCTCAAAGACACTTGAAGCCAC -3'
(R):5'- AAGCCAGCATAGAGACATGCCTCG -3'

Sequencing Primer
(F):5'- TTGAAGCCACTGTCCCAG -3'
(R):5'- TGCAAGAACATTCTGGCCTG -3'

Posted On

2013-05-09