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, TXBP151, D6Ertd772e, 1200003J11Rik, T6BP, D6Ertd404e

MMRRC Submission

044470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6313 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52690714-52743765 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 52721341 bp (GRCm39)

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
Abca16	T	C	7: 120,126,344 (GRCm39)	F1167L	probably damaging	Het
Abraxas2	G	A	7: 132,476,694 (GRCm39)	A145T	probably damaging	Het
Acaca	C	T	11: 84,183,755 (GRCm39)	T32I	probably benign	Het
Adam6a	A	T	12: 113,508,670 (GRCm39)	N348Y	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arhgef38	T	C	3: 132,940,469 (GRCm39)	D39G	possibly damaging	Het
Arid5b	T	C	10: 67,933,412 (GRCm39)	D587G	possibly damaging	Het
Brwd1	A	G	16: 95,809,141 (GRCm39)	V1963A	probably benign	Het
Ccdc136	T	A	6: 29,410,204 (GRCm39)	L34Q	probably damaging	Het
Cdh2	T	C	18: 16,907,579 (GRCm39)	Q53R	probably benign	Het
Celsr2	G	A	3: 108,308,530 (GRCm39)	S1799L	probably damaging	Het
Cenpe	A	G	3: 134,935,936 (GRCm39)	E457G	probably benign	Het
Cmtm1	A	T	8: 105,031,795 (GRCm39)	M283K	possibly damaging	Het
Dcdc5	T	C	2: 106,198,516 (GRCm39)		noncoding transcript	Het
Decr1	T	A	4: 15,924,261 (GRCm39)	M220L	probably benign	Het
Dgkg	T	G	16: 22,338,311 (GRCm39)	D592A	probably damaging	Het
Dkkl1	T	C	7: 44,860,862 (GRCm39)	Q39R	probably benign	Het
Dyrk1a	T	A	16: 94,460,373 (GRCm39)	C10S	possibly damaging	Het
Efcab2	A	T	1: 178,308,936 (GRCm39)	E146D	probably benign	Het
Efhc1	T	C	1: 21,049,652 (GRCm39)	V504A	possibly damaging	Het
Ermard	T	G	17: 15,273,467 (GRCm39)		probably null	Het
Espl1	T	C	15: 102,224,247 (GRCm39)	V1266A	probably benign	Het
Fbxw22	A	C	9: 109,232,465 (GRCm39)	V40G	probably damaging	Het
Gm3629	A	T	14: 17,834,409 (GRCm39)	I194N	possibly damaging	Het
Gnai2	C	T	9: 107,497,296 (GRCm39)	V33M	possibly damaging	Het
H2-DMb1	T	C	17: 34,376,506 (GRCm39)		probably null	Het
Hc	T	C	2: 34,879,851 (GRCm39)		probably null	Het
Iars1	T	C	13: 49,861,921 (GRCm39)	S491P	probably damaging	Het
Knl1	T	A	2: 118,899,799 (GRCm39)	L500H	probably damaging	Het
Lamb1	A	T	12: 31,319,146 (GRCm39)	T102S	probably damaging	Het
Lrrc7	A	G	3: 157,866,373 (GRCm39)	S1123P	probably damaging	Het
Mettl5	C	A	2: 69,702,071 (GRCm39)		probably null	Het
Mmp11	A	G	10: 75,759,818 (GRCm39)	*4R	probably null	Het
Myom1	A	T	17: 71,389,483 (GRCm39)	D911V	probably benign	Het
Nid1	A	G	13: 13,638,367 (GRCm39)	T96A	probably benign	Het
Nlrp4e	G	T	7: 23,052,597 (GRCm39)	V839L	probably benign	Het
Notch3	A	T	17: 32,370,128 (GRCm39)		probably null	Het
Or8k35	T	C	2: 86,424,411 (GRCm39)	T254A	possibly damaging	Het
Pcdh8	T	C	14: 80,005,091 (GRCm39)	H978R	probably benign	Het
Pde8b	A	T	13: 95,178,508 (GRCm39)	C537*	probably null	Het
Polr1b	T	C	2: 128,967,366 (GRCm39)	F920L	probably damaging	Het
Polr2f	A	G	15: 79,035,573 (GRCm39)	T87A	probably damaging	Het
Pon2	T	A	6: 5,272,421 (GRCm39)	H133L	probably damaging	Het
Pou2af2	C	T	9: 51,201,481 (GRCm39)	D192N	probably damaging	Het
Ptk2b	T	A	14: 66,416,280 (GRCm39)	E205V	probably damaging	Het
Rb1cc1	T	A	1: 6,314,357 (GRCm39)	M343K	probably benign	Het
Rlf	G	A	4: 121,005,807 (GRCm39)	R1058W	probably damaging	Het
S100z	T	A	13: 95,615,082 (GRCm39)	K28*	probably null	Het
Scarf1	T	A	11: 75,411,141 (GRCm39)	N273K	probably benign	Het
Setd2	A	G	9: 110,385,434 (GRCm39)	I136M	unknown	Het
Sfrp2	A	G	3: 83,674,291 (GRCm39)	D148G	probably benign	Het
Slc24a4	A	G	12: 102,220,769 (GRCm39)	E400G	probably benign	Het
Slc2a9	T	G	5: 38,610,464 (GRCm39)	I112L	probably benign	Het
Smc5	A	T	19: 23,186,312 (GRCm39)	Y972*	probably null	Het
Sntg1	T	C	1: 8,515,248 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,129,470 (GRCm39)	N1180S	probably benign	Het
Stag1	A	G	9: 100,639,786 (GRCm39)	D114G	probably damaging	Het
Suclg1	T	C	6: 73,233,192 (GRCm39)	S46P	probably damaging	Het
Synj1	C	T	16: 90,743,703 (GRCm39)	A1186T	probably benign	Het
Tas2r124	A	G	6: 132,732,410 (GRCm39)	T240A	probably benign	Het
Tchh	C	A	3: 93,355,158 (GRCm39)	Q1533K	unknown	Het
Tmprss15	T	C	16: 78,759,058 (GRCm39)	T887A	probably benign	Het
Ttn	T	C	2: 76,536,937 (GRCm39)	I34963V	probably benign	Het
Unc79	G	A	12: 103,078,878 (GRCm39)	G1485D	probably damaging	Het
Usp9y	G	T	Y: 1,385,355 (GRCm39)	H633N	probably benign	Homo
Vmn2r99	A	T	17: 19,602,867 (GRCm39)	N541Y	probably damaging	Het
Zbtb11	T	A	16: 55,810,854 (GRCm39)	N337K	probably benign	Het
Zfp260	T	A	7: 29,804,267 (GRCm39)	C56S	possibly damaging	Het
Zfp457	C	T	13: 67,440,746 (GRCm39)	E610K	probably damaging	Het

Other mutations in Tax1bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02383:Tax1bp1	APN	6	52,730,351 (GRCm39)	missense	probably benign	0.16
IGL03177:Tax1bp1	APN	6	52,713,932 (GRCm39)	missense	possibly damaging	0.95
R0836:Tax1bp1	UTSW	6	52,718,925 (GRCm39)	splice site	probably benign
R1119:Tax1bp1	UTSW	6	52,718,933 (GRCm39)	splice site	probably benign
R1456:Tax1bp1	UTSW	6	52,721,229 (GRCm39)	missense	probably benign	0.01
R1465:Tax1bp1	UTSW	6	52,704,179 (GRCm39)	splice site	probably benign
R1484:Tax1bp1	UTSW	6	52,710,305 (GRCm39)	missense	probably damaging	0.99
R1661:Tax1bp1	UTSW	6	52,713,897 (GRCm39)	missense	probably benign	0.18
R1665:Tax1bp1	UTSW	6	52,713,897 (GRCm39)	missense	probably benign	0.18
R1712:Tax1bp1	UTSW	6	52,706,311 (GRCm39)	missense	probably damaging	1.00
R1752:Tax1bp1	UTSW	6	52,698,398 (GRCm39)	missense	probably damaging	1.00
R1913:Tax1bp1	UTSW	6	52,742,937 (GRCm39)	missense	probably damaging	1.00
R2496:Tax1bp1	UTSW	6	52,735,342 (GRCm39)	critical splice donor site	probably null
R3782:Tax1bp1	UTSW	6	52,716,533 (GRCm39)	missense	probably damaging	1.00
R3804:Tax1bp1	UTSW	6	52,719,770 (GRCm39)	missense	probably benign	0.45
R4238:Tax1bp1	UTSW	6	52,743,036 (GRCm39)	nonsense	probably null
R4303:Tax1bp1	UTSW	6	52,704,263 (GRCm39)	missense	possibly damaging	0.90
R4665:Tax1bp1	UTSW	6	52,714,116 (GRCm39)	missense	probably benign	0.00
R4870:Tax1bp1	UTSW	6	52,706,478 (GRCm39)	intron	probably benign
R5009:Tax1bp1	UTSW	6	52,706,478 (GRCm39)	intron	probably benign
R5965:Tax1bp1	UTSW	6	52,706,317 (GRCm39)	missense	probably damaging	1.00
R6328:Tax1bp1	UTSW	6	52,723,694 (GRCm39)	missense	probably benign	0.03
R6338:Tax1bp1	UTSW	6	52,706,361 (GRCm39)	nonsense	probably null
R6886:Tax1bp1	UTSW	6	52,710,208 (GRCm39)	missense	probably benign	0.43
R7251:Tax1bp1	UTSW	6	52,698,341 (GRCm39)	missense	possibly damaging	0.95
R7531:Tax1bp1	UTSW	6	52,723,682 (GRCm39)	missense	probably benign	0.00
R8225:Tax1bp1	UTSW	6	52,721,340 (GRCm39)	critical splice donor site	probably null
R9138:Tax1bp1	UTSW	6	52,718,958 (GRCm39)	missense	probably damaging	1.00
R9261:Tax1bp1	UTSW	6	52,714,116 (GRCm39)	missense	probably benign	0.00
R9391:Tax1bp1	UTSW	6	52,735,220 (GRCm39)	nonsense	probably null
R9455:Tax1bp1	UTSW	6	52,743,029 (GRCm39)	missense	probably damaging	1.00
R9459:Tax1bp1	UTSW	6	52,706,314 (GRCm39)	missense	probably damaging	1.00
R9711:Tax1bp1	UTSW	6	52,704,215 (GRCm39)	missense	probably damaging	1.00
RF020:Tax1bp1	UTSW	6	52,698,339 (GRCm39)	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