Mutagenetix > Incidental Mutation

Incidental Mutation 'R6313:Tax1bp1'

510516

Institutional Source

Beutler Lab

Gene Symbol

Tax1bp1

Ensembl Gene

ENSMUSG00000004535

Gene Name

Tax1 (human T cell leukemia virus type I) binding protein 1

Synonyms

1700069J21Rik, 1200003J11Rik, D6Ertd404e, D6Ertd772e, T6BP, TXBP151

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52713729-52766780 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 52744356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000079548 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080723]

AlphaFold

Q3UKC1

Predicted Effect

probably null
Transcript: ENSMUST00000080723

SMART Domains

Protein: ENSMUSP00000079548
Gene: ENSMUSG00000004535

Domain	Start	End	E-Value	Type
Pfam:CALCOCO1	15	416	2.6e-92	PFAM
coiled coil region	569	620	N/A	INTRINSIC
ZnF_C2H2	753	778	7.57e1	SMART
ZnF_C2H2	780	805	3.21e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147513

Meta Mutation Damage Score

0.9484

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (70/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a HTLV-1 tax1 binding protein. The encoded protein interacts with TNFAIP3, and inhibits TNF-induced apoptosis by mediating the TNFAIP3 anti-apoptotic activity. Degradation of this protein by caspase-3-like family proteins is associated with apoptosis induced by TNF. This protein may also have a role in the inhibition of inflammatory signaling pathways. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]
PHENOTYPE: Knockout mice are born alive but fail to thrive and develop inflammatory cardiac valvulitis and dermatitis, die prematurely, and are hypersensitive to low doses of TNF and IL-1beta. In contrast, embryos homozygous for a gene trap mutation die at E13.5 from hemorrhaging and/or cardiac defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	C	T	9: 51,290,181	D192N	probably damaging	Het
4932415D10Rik	T	C	10: 82,293,636	N1180S	probably benign	Het
Abca16	T	C	7: 120,527,121	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,874,965	A145T	probably damaging	Het
Acaca	C	T	11: 84,292,929	T32I	probably benign	Het
Adam6a	A	T	12: 113,545,050	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,508,061	A227T	possibly damaging	Het
Arhgef38	T	C	3: 133,234,708	D39G	possibly damaging	Het
Arid5b	T	C	10: 68,097,582	D587G	possibly damaging	Het
Brwd1	A	G	16: 96,007,941	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,205	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,774,522	Q53R	probably benign	Het
Celsr2	G	A	3: 108,401,214	S1799L	probably damaging	Het
Cenpe	A	G	3: 135,230,175	E457G	probably benign	Het
Cmtm1	A	T	8: 104,305,163	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,368,171		noncoding transcript	Het
Decr1	T	A	4: 15,924,261	M220L	probably benign	Het
Dgkg	T	G	16: 22,519,561	D592A	probably damaging	Het
Dkkl1	T	C	7: 45,211,438	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,659,514	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,481,371	E146D	probably benign	Het
Efhc1	T	C	1: 20,979,428	V504A	possibly damaging	Het
Ermard	T	G	17: 15,053,205		probably null	Het
Espl1	T	C	15: 102,315,812	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,403,397	V40G	probably damaging	Het
Gm3460	A	T	14: 6,619,410	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,620,097	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,157,532		probably null	Het
Hc	T	C	2: 34,989,839		probably null	Het
Iars	T	C	13: 49,708,445	S491P	probably damaging	Het
Knl1	T	A	2: 119,069,318	L500H	probably damaging	Het
Lamb1	A	T	12: 31,269,147	T102S	probably damaging	Het
Lrrc7	A	G	3: 158,160,736	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,871,727		probably null	Het
Mmp11	A	G	10: 75,923,984	*4R	probably null	Het
Myom1	A	T	17: 71,082,488	D911V	probably benign	Het
Nid1	A	G	13: 13,463,782	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,353,172	V839L	probably benign	Het
Notch3	A	T	17: 32,151,154		probably null	Het
Olfr1082	T	C	2: 86,594,067	T254A	possibly damaging	Het
Pcdh8	T	C	14: 79,767,651	H978R	probably benign	Het
Pde8b	A	T	13: 95,042,000	C537*	probably null	Het
Polr1b	T	C	2: 129,125,446	F920L	probably damaging	Het
Polr2f	A	G	15: 79,151,373	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421	H133L	probably damaging	Het
Ptk2b	T	A	14: 66,178,831	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,244,133	M343K	probably benign	Het
Rlf	G	A	4: 121,148,610	R1058W	probably damaging	Het
S100z	T	A	13: 95,478,574	K28*	probably null	Het
Scarf1	T	A	11: 75,520,315	N273K	probably benign	Het
Setd2	A	G	9: 110,556,366	I136M	unknown	Het
Sfrp2	A	G	3: 83,766,984	D148G	probably benign	Het
Slc24a4	A	G	12: 102,254,510	E400G	probably benign	Het
Slc2a9	T	G	5: 38,453,121	I112L	probably benign	Het
Smc5	A	T	19: 23,208,948	Y972*	probably null	Het
Sntg1	T	C	1: 8,445,024		probably null	Het
Stag1	A	G	9: 100,757,733	D114G	probably damaging	Het
Suclg1	T	C	6: 73,256,209	S46P	probably damaging	Het
Synj1	C	T	16: 90,946,815	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,755,447	T240A	probably benign	Het
Tchh	C	A	3: 93,447,851	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,962,170	T887A	probably benign	Het
Ttn	T	C	2: 76,706,593	I34963V	probably benign	Het
Unc79	G	A	12: 103,112,619	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,382,605	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,990,491	N337K	probably benign	Het
Zfp260	T	A	7: 30,104,842	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,292,682	E610K	probably damaging	Het

Other mutations in Tax1bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Tax1bp1	APN	6	52753366	missense	probably benign	0.16
IGL03177:Tax1bp1	APN	6	52736947	missense	possibly damaging	0.95
R0836:Tax1bp1	UTSW	6	52741940	splice site	probably benign
R1119:Tax1bp1	UTSW	6	52741948	splice site	probably benign
R1456:Tax1bp1	UTSW	6	52744244	missense	probably benign	0.01
R1465:Tax1bp1	UTSW	6	52727194	splice site	probably benign
R1484:Tax1bp1	UTSW	6	52733320	missense	probably damaging	0.99
R1661:Tax1bp1	UTSW	6	52736912	missense	probably benign	0.18
R1665:Tax1bp1	UTSW	6	52736912	missense	probably benign	0.18
R1712:Tax1bp1	UTSW	6	52729326	missense	probably damaging	1.00
R1752:Tax1bp1	UTSW	6	52721413	missense	probably damaging	1.00
R1913:Tax1bp1	UTSW	6	52765952	missense	probably damaging	1.00
R2496:Tax1bp1	UTSW	6	52758357	critical splice donor site	probably null
R3782:Tax1bp1	UTSW	6	52739548	missense	probably damaging	1.00
R3804:Tax1bp1	UTSW	6	52742785	missense	probably benign	0.45
R4238:Tax1bp1	UTSW	6	52766051	nonsense	probably null
R4303:Tax1bp1	UTSW	6	52727278	missense	possibly damaging	0.90
R4665:Tax1bp1	UTSW	6	52737131	missense	probably benign	0.00
R4870:Tax1bp1	UTSW	6	52729493	intron	probably benign
R5009:Tax1bp1	UTSW	6	52729493	intron	probably benign
R5965:Tax1bp1	UTSW	6	52729332	missense	probably damaging	1.00
R6328:Tax1bp1	UTSW	6	52746709	missense	probably benign	0.03
R6338:Tax1bp1	UTSW	6	52729376	nonsense	probably null
R6886:Tax1bp1	UTSW	6	52733223	missense	probably benign	0.43
R7251:Tax1bp1	UTSW	6	52721356	missense	possibly damaging	0.95
R7531:Tax1bp1	UTSW	6	52746697	missense	probably benign	0.00
R8225:Tax1bp1	UTSW	6	52744355	critical splice donor site	probably null
R9138:Tax1bp1	UTSW	6	52741973	missense	probably damaging	1.00
R9261:Tax1bp1	UTSW	6	52737131	missense	probably benign	0.00
R9391:Tax1bp1	UTSW	6	52758235	nonsense	probably null
R9455:Tax1bp1	UTSW	6	52766044	missense	probably damaging	1.00
R9459:Tax1bp1	UTSW	6	52729329	missense	probably damaging	1.00
R9711:Tax1bp1	UTSW	6	52727230	missense	probably damaging	1.00
RF020:Tax1bp1	UTSW	6	52721354	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGTTCAGCGACTTTTCCAG -3'
(R):5'- ACGTGACTATTCTCCTGAAGCTAAG -3'

Sequencing Primer
(F):5'- CAGCGACTTTTCCAGTAACTTAC -3'
(R):5'- TCTGCATGGTCACCACATAC -3'

Posted On

2018-04-02