Mutagenetix > Incidental Mutations

Incidental Mutation 'R6338:Tax1bp1'

514319

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

Is this an essential gene?

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

Stock #

R6338 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52713729-52766780 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 52729376 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 121 (R121*)

Ref Sequence

ENSEMBL: ENSMUSP00000116059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080723] [ENSMUST00000129660] [ENSMUST00000138040] [ENSMUST00000149588]

Predicted Effect

probably null
Transcript: ENSMUST00000080723
AA Change: R121*

SMART Domains

Protein: ENSMUSP00000079548
Gene: ENSMUSG00000004535
AA Change: R121*

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: ENSMUST00000128173

Predicted Effect

probably benign
Transcript: ENSMUST00000129660

SMART Domains

Protein: ENSMUSP00000122922
Gene: ENSMUSG00000004535

Domain	Start	End	E-Value	Type
Pfam:CALCOCO1	11	87	3.2e-30	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000138040
AA Change: R121*

SMART Domains

Protein: ENSMUSP00000119522
Gene: ENSMUSG00000004535
AA Change: R121*

Domain	Start	End	E-Value	Type
Pfam:CALCOCO1	11	172	8.5e-58	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000149588
AA Change: R121*

SMART Domains

Protein: ENSMUSP00000116059
Gene: ENSMUSG00000004535
AA Change: R121*

Domain	Start	End	E-Value	Type
Pfam:CALCOCO1	11	161	2.3e-55	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 98.1%
20x: 93.8%

Validation Efficiency

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer3	T	C	7: 98,257,715	Y128C	probably damaging	Het
Adam30	T	G	3: 98,161,541	I102S	probably damaging	Het
Adcy8	A	T	15: 64,920,617	D163E	possibly damaging	Het
Agrn	C	T	4: 156,170,585	E1614K	probably benign	Het
Aldh16a1	A	T	7: 45,141,961	W107R	probably damaging	Het
Arfgef2	A	G	2: 166,845,570	D238G	probably damaging	Het
Arhgap11a	T	C	2: 113,833,725	S738G	probably benign	Het
Arid5b	C	A	10: 68,098,561	G504*	probably null	Het
Carmil3	T	C	14: 55,499,849	V763A	possibly damaging	Het
Cd209e	T	A	8: 3,849,154	D186V	probably damaging	Het
Cdh23	T	C	10: 60,413,151	D882G	probably damaging	Het
Cdh4	T	C	2: 179,890,812	V689A	probably damaging	Het
Cntn6	T	A	6: 104,726,139	V174E	probably damaging	Het
Col7a1	C	T	9: 108,956,633	T390M	unknown	Het
Crybg1	T	C	10: 43,992,509	D1017G	probably damaging	Het
Csmd1	T	G	8: 15,932,492	K2725T	possibly damaging	Het
Dnaaf2	T	C	12: 69,198,122	E55G	probably damaging	Het
Fam13a	A	G	6: 58,953,499	V476A	probably damaging	Het
Fem1b	A	T	9: 62,797,011	D322E	probably benign	Het
Frmpd1	G	A	4: 45,274,489	V466I	probably benign	Het
Gm11639	C	T	11: 104,843,208	R2027*	probably null	Het
Gm20671	A	T	5: 32,820,647	D1794E	probably damaging	Het
Gpatch2	G	T	1: 187,225,514	R22L	probably damaging	Het
Gtf2h1	A	G	7: 46,816,456	T450A	probably benign	Het
Kcnc2	G	C	10: 112,271,856	G51R	probably benign	Het
Krit1	T	G	5: 3,836,857	M702R	probably benign	Het
Krt34	T	C	11: 100,038,490	N298S	probably benign	Het
Lrrcc1	T	A	3: 14,547,316	N376K	possibly damaging	Het
Myo15	A	G	11: 60,478,133	E573G	probably damaging	Het
Olfr1224-ps1	T	A	2: 89,156,371	K268I	probably damaging	Het
Olfr1390	A	G	11: 49,340,867	S112G	probably benign	Het
Olfr366	A	T	2: 37,219,822	D111V	probably damaging	Het
Olfr391-ps	A	T	11: 73,799,319	L146Q	possibly damaging	Het
Olfr661	T	A	7: 104,688,171	V52E	possibly damaging	Het
Olfr736	T	A	14: 50,393,400	F215I	possibly damaging	Het
Phf20	A	T	2: 156,273,686	Q309L	possibly damaging	Het
Plcd1	G	A	9: 119,074,991	R292C	probably damaging	Het
Pold3	A	G	7: 100,088,105	V342A	possibly damaging	Het
Polr2a	A	T	11: 69,739,679		probably null	Het
Ptprcap	A	G	19: 4,156,224	E102G	probably benign	Het
Rab11fip5	T	C	6: 85,341,378	E843G	possibly damaging	Het
Rai14	T	C	15: 10,574,976	D632G	probably damaging	Het
Rnf149	A	T	1: 39,560,742	C268S	probably null	Het
Slc6a13	T	A	6: 121,334,839	F392I	probably damaging	Het
Slc7a11	C	T	3: 50,384,043		probably null	Het
Slf1	T	A	13: 77,084,462		probably null	Het
Stard9	G	A	2: 120,697,485	V1408I	probably benign	Het
Suclg1	T	C	6: 73,264,246	I183T	probably damaging	Het
Syne1	T	C	10: 5,255,475	E3497G	probably benign	Het
Tdpoz2	C	T	3: 93,652,336	V110I	probably benign	Het
Ubn2	A	G	6: 38,490,714	T788A	probably benign	Het
Unc13c	T	A	9: 73,734,447	I1255F	probably damaging	Het
Usp44	G	T	10: 93,846,513	R275I	probably damaging	Het
Uspl1	A	G	5: 149,215,034	N1015D	probably benign	Het
Wbp2nl	G	T	15: 82,299,045	W13C	possibly damaging	Het
Zc3h14	T	A	12: 98,758,590	D170E	possibly 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
R6313:Tax1bp1	UTSW	6	52744356	critical splice donor site	probably null
R6328:Tax1bp1	UTSW	6	52746709	missense	probably benign	0.03
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
RF020:Tax1bp1	UTSW	6	52721354	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGAGACAACTTTGGGCTATG -3'
(R):5'- GGCATAATCTGAAAATTCTCACAGC -3'

Sequencing Primer
(F):5'- ACAACTTTGGGCTATGTTTGAGAAG -3'
(R):5'- CTCACAGCTATCAACTGGATTAGG -3'

Posted On

2018-04-27