Mutagenetix > Incidental Mutation

Incidental Mutation 'R1712:Tax1bp1'

190664

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

039745-MU

Accession Numbers

Essential gene?

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

Stock #

R1712 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52690714-52743765 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52706311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 104 (Y104C)

Ref Sequence

ENSEMBL: ENSMUSP00000116059 (fasta)

Gene Model

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

AlphaFold

Q3UKC1

Predicted Effect

probably damaging
Transcript: ENSMUST00000080723
AA Change: Y104C

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

SMART Domains

Protein: ENSMUSP00000079548
Gene: ENSMUSG00000004535
AA Change: Y104C

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 damaging
Transcript: ENSMUST00000138040
AA Change: Y104C

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

SMART Domains

Protein: ENSMUSP00000119522
Gene: ENSMUSG00000004535
AA Change: Y104C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149588
AA Change: Y104C

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

SMART Domains

Protein: ENSMUSP00000116059
Gene: ENSMUSG00000004535
AA Change: Y104C

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Accs	T	A	2: 93,678,448 (GRCm39)	E12D	probably damaging	Het
Ahnak2	C	A	12: 112,748,998 (GRCm39)	R283L	probably benign	Het
BC005624	T	C	2: 30,864,020 (GRCm39)	E191G	probably damaging	Het
C1galt1	A	G	6: 7,871,217 (GRCm39)	N351S	probably benign	Het
Ccdc162	T	C	10: 41,415,427 (GRCm39)	R2179G	probably benign	Het
Ccdc88c	G	A	12: 100,905,284 (GRCm39)	T1108M	probably benign	Het
Cd47	T	C	16: 49,714,543 (GRCm39)	L184P	probably damaging	Het
Cdc40	T	C	10: 40,717,372 (GRCm39)	K440E	probably damaging	Het
Cenpe	G	A	3: 134,971,694 (GRCm39)	V2262I	probably damaging	Het
Cep290	A	G	10: 100,390,361 (GRCm39)	K2035E	probably benign	Het
Cks1brt	G	T	8: 85,898,172 (GRCm39)	L8F	probably benign	Het
Col17a1	T	C	19: 47,637,442 (GRCm39)		probably benign	Het
Coro6	A	T	11: 77,360,293 (GRCm39)	N421I	probably benign	Het
Cps1	T	C	1: 67,269,440 (GRCm39)	S1480P	probably damaging	Het
Csrnp3	G	T	2: 65,832,826 (GRCm39)	A110S	probably damaging	Het
Cyp2d10	G	T	15: 82,287,240 (GRCm39)	T461K	probably damaging	Het
Dmxl2	A	G	9: 54,308,769 (GRCm39)	V1994A	probably benign	Het
Dnah11	T	A	12: 118,160,379 (GRCm39)	N117I	probably benign	Het
Dnajc3	A	G	14: 119,195,307 (GRCm39)	Y74C	probably damaging	Het
Fam13c	T	A	10: 70,390,403 (GRCm39)	F555I	possibly damaging	Het
Fbn1	T	A	2: 125,188,354 (GRCm39)	D1495V	probably damaging	Het
Fbrsl1	T	C	5: 110,595,862 (GRCm39)	T58A	probably benign	Het
Gjd3	A	G	11: 102,691,706 (GRCm39)	I99T	possibly damaging	Het
Glce	T	C	9: 61,977,857 (GRCm39)	N9S	probably damaging	Het
Gosr1	T	C	11: 76,641,704 (GRCm39)	T125A	possibly damaging	Het
Ifi27l2a	T	A	12: 103,406,202 (GRCm39)		probably null	Het
Jph1	C	T	1: 17,167,456 (GRCm39)	D125N	possibly damaging	Het
Kbtbd12	A	T	6: 88,595,676 (GRCm39)	S51R	probably damaging	Het
Klra9	A	T	6: 130,166,659 (GRCm39)		probably null	Het
Kmo	A	T	1: 175,484,289 (GRCm39)	M340L	probably benign	Het
Lama1	T	C	17: 68,024,181 (GRCm39)	I93T	possibly damaging	Het
Limk2	A	T	11: 3,308,104 (GRCm39)		probably null	Het
Mgat5	C	A	1: 127,248,375 (GRCm39)	N92K	probably benign	Het
Mib2	T	A	4: 155,739,256 (GRCm39)	I908F	probably damaging	Het
Mical1	T	G	10: 41,356,359 (GRCm39)	L304R	probably damaging	Het
Mtbp	G	T	15: 55,434,690 (GRCm39)		probably null	Het
Myo3a	T	C	2: 22,455,004 (GRCm39)	Y70H	probably damaging	Het
Neb	T	C	2: 52,133,401 (GRCm39)	Y3379C	probably damaging	Het
Neurod2	G	T	11: 98,218,029 (GRCm39)	N378K	probably damaging	Het
Oog4	G	A	4: 143,166,484 (GRCm39)	L107F	probably damaging	Het
Or2g25	A	G	17: 37,970,799 (GRCm39)	S142P	probably benign	Het
Or4k40	T	A	2: 111,251,003 (GRCm39)	M98L	probably benign	Het
Or6x1	A	G	9: 40,099,161 (GRCm39)	Y250C	probably damaging	Het
Or8k20	T	A	2: 86,106,337 (GRCm39)	T165S	probably damaging	Het
Pfdn6	T	C	17: 34,158,528 (GRCm39)	Y82C	probably damaging	Het
Pla2g4d	C	A	2: 120,107,971 (GRCm39)	A313S	possibly damaging	Het
Ptcd3	C	A	6: 71,885,637 (GRCm39)	E30*	probably null	Het
Rai1	A	G	11: 60,078,428 (GRCm39)	T831A	probably benign	Het
Rims1	G	A	1: 22,367,172 (GRCm39)	T1176M	probably damaging	Het
Rin1	A	C	19: 5,105,171 (GRCm39)	I744L	probably benign	Het
Rora	T	A	9: 69,282,771 (GRCm39)	S430T	probably benign	Het
Rsph10b	T	A	5: 143,873,967 (GRCm39)	S23T	probably damaging	Het
Ryr1	T	C	7: 28,746,928 (GRCm39)	N3773S	probably benign	Het
Scn4a	A	G	11: 106,230,180 (GRCm39)	Y543H	probably damaging	Het
Scn4a	C	A	11: 106,236,373 (GRCm39)	G296C	probably benign	Het
Scn7a	T	C	2: 66,535,447 (GRCm39)	T435A	probably benign	Het
Shank2	G	T	7: 143,964,890 (GRCm39)	D833Y	probably damaging	Het
Slc9a2	T	C	1: 40,802,770 (GRCm39)	S607P	possibly damaging	Het
Slx4	G	A	16: 3,809,458 (GRCm39)	R346W	probably damaging	Het
Spata20	A	T	11: 94,371,340 (GRCm39)	C675S	probably benign	Het
Suclg2	A	T	6: 95,563,997 (GRCm39)	I196N	probably damaging	Het
Sv2b	G	A	7: 74,798,807 (GRCm39)	H272Y	possibly damaging	Het
Svep1	T	C	4: 58,070,629 (GRCm39)	I2386V	probably benign	Het
Taf13	A	T	3: 108,488,445 (GRCm39)	E109D	possibly damaging	Het
Tanc2	A	G	11: 105,790,606 (GRCm39)	T976A	probably benign	Het
Tfeb	T	C	17: 48,099,911 (GRCm39)		probably null	Het
Tlr9	T	C	9: 106,101,248 (GRCm39)	Y180H	probably damaging	Het
Trappc9	G	A	15: 72,897,816 (GRCm39)	R377W	probably damaging	Het
Ttc12	T	A	9: 49,356,499 (GRCm39)	T510S	probably benign	Het
Ubqln1	T	C	13: 58,339,895 (GRCm39)	E280G	probably damaging	Het
Urm1	T	C	2: 29,731,437 (GRCm39)	W44R	probably damaging	Het
Usp32	A	T	11: 84,933,406 (GRCm39)	I34N	probably benign	Het
Vars1	T	C	17: 35,233,728 (GRCm39)	L1018P	probably damaging	Het
Vcan	A	T	13: 89,869,894 (GRCm39)	V206D	probably damaging	Het
Vim	T	C	2: 13,583,270 (GRCm39)	V224A	probably damaging	Het
Vmn2r106	G	T	17: 20,498,997 (GRCm39)	H305N	probably benign	Het
Vmn2r78	A	G	7: 86,604,132 (GRCm39)	N770S	probably damaging	Het
Wdr33	T	A	18: 32,029,684 (GRCm39)	L961Q	unknown	Het
Xylt2	A	G	11: 94,559,575 (GRCm39)	S356P	possibly damaging	Het
Zbtb14	A	G	17: 69,694,575 (GRCm39)	N91S	probably damaging	Het
Zc3h6	T	C	2: 128,858,654 (GRCm39)	L895S	probably damaging	Het
Zc3h7b	C	T	15: 81,661,289 (GRCm39)	P376L	probably benign	Het
Zfp131	T	C	13: 120,228,079 (GRCm39)	T523A	probably benign	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
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
R6313:Tax1bp1	UTSW	6	52,721,341 (GRCm39)	critical splice donor site	probably null
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'- GAGAGACAACTTTGGGCTATGTTTGAGA -3'
(R):5'- TGCACTAGTTACTGCACACATGACATT -3'

Sequencing Primer
(F):5'- TTGGGCTATGTTTGAGAAGAAAG -3'
(R):5'- ctgagaacggctaaggaaaac -3'

Posted On

2014-05-14