Mutagenetix > Incidental Mutation

Incidental Mutation 'R7810:Tab1'

601129

Institutional Source

Beutler Lab

Gene Symbol

Tab1

Ensembl Gene

ENSMUSG00000022414

Gene Name

TGF-beta activated kinase 1/MAP3K7 binding protein 1

Synonyms

2310012M03Rik, Map3k7ip1, b2b449Clo, Tak1-binding protein 1

MMRRC Submission

045865-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7810 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80017333-80045908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80042999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 398 (T398S)

Ref Sequence

ENSEMBL: ENSMUSP00000023050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023050]

AlphaFold

Q8CF89

PDB Structure

Structural basis of autoactivation of p38 alpha induced by TAB1 (Monoclinic crystal form) [X-RAY DIFFRACTION]
Structural basis of autoactivation of p38 alpha induced by TAB1 (Tetragonal crystal form) [X-RAY DIFFRACTION]
Structural basis of autoactivation of p38 alpha induced by TAB1 (Tetragonal crystal form with bound sulphate) [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023050
AA Change: T398S

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000023050
Gene: ENSMUSG00000022414
AA Change: T398S

Domain	Start	End	E-Value	Type
PP2Cc	26	363	7.45e-40	SMART
low complexity region	397	408	N/A	INTRINSIC
low complexity region	438	455	N/A	INTRINSIC
PDB:4L3P\|A	466	502	6e-17	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (91/92)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant fetuses exhibit edema, hemorrhaging, cardiovascular and pulmonary dysmorphogenesis, and die in the late stages of gestation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	T	C	8: 44,105,045 (GRCm39)	E200G	probably benign	Het
Ankfy1	C	T	11: 72,645,281 (GRCm39)	Q787*	probably null	Het
Birc6	T	A	17: 74,855,815 (GRCm39)	H208Q	probably damaging	Het
Brsk2	T	A	7: 141,539,157 (GRCm39)		probably null	Het
Cabp5	T	A	7: 13,132,263 (GRCm39)	F11I	possibly damaging	Het
Ccdc88a	T	C	11: 29,435,964 (GRCm39)	Y1296H	probably damaging	Het
Ccdc88b	A	G	19: 6,826,454 (GRCm39)	V1087A	probably benign	Het
Cct3	C	T	3: 88,228,442 (GRCm39)	T508I	probably damaging	Het
Ceacam9	T	A	7: 16,457,658 (GRCm39)	M57K	possibly damaging	Het
Ces1f	T	C	8: 93,983,546 (GRCm39)	E487G	probably damaging	Het
Chd5	A	G	4: 152,443,032 (GRCm39)	K278E	probably damaging	Het
Cntnap3	T	A	13: 64,941,122 (GRCm39)	H286L	possibly damaging	Het
Dnai7	T	G	6: 145,140,312 (GRCm39)	D163A	probably benign	Het
Efr3a	G	T	15: 65,659,022 (GRCm39)		probably benign	Het
Fastkd2	T	A	1: 63,770,851 (GRCm39)	I69N	possibly damaging	Het
Flg2	T	C	3: 93,107,548 (GRCm39)	I11T	possibly damaging	Het
Folr2	T	C	7: 101,490,102 (GRCm39)	M84V	possibly damaging	Het
Galnt12	T	C	4: 47,113,786 (GRCm39)	F360S	probably damaging	Het
Galr2	T	C	11: 116,173,946 (GRCm39)	V192A	probably benign	Het
Gas6	A	T	8: 13,516,809 (GRCm39)	I563N	probably damaging	Het
Gbe1	T	C	16: 70,324,085 (GRCm39)	F567L	possibly damaging	Het
Gm12695	G	A	4: 96,619,608 (GRCm39)	H423Y	probably damaging	Het
Gm6902	T	C	7: 22,973,243 (GRCm39)	T95A	probably benign	Het
Gpr155	G	T	2: 73,212,296 (GRCm39)	A109D	probably damaging	Het
Hsdl1	T	C	8: 120,294,711 (GRCm39)	D5G	probably damaging	Het
Hyal1	C	T	9: 107,455,628 (GRCm39)	P313S	probably damaging	Het
Igfn1	G	A	1: 135,902,527 (GRCm39)	T390M	probably damaging	Het
Irx1	C	A	13: 72,107,917 (GRCm39)	R255L	probably benign	Het
Itga2	T	A	13: 115,002,715 (GRCm39)	T592S	probably benign	Het
Kit	C	A	5: 75,769,982 (GRCm39)	S131R	probably benign	Het
Map1b	T	C	13: 99,568,390 (GRCm39)	T1444A	unknown	Het
Mapk8ip1	C	T	2: 92,219,496 (GRCm39)	E112K	probably benign	Het
Marveld3	T	C	8: 110,681,266 (GRCm39)	I210V	probably damaging	Het
Masp1	T	A	16: 23,295,068 (GRCm39)	I398L	probably benign	Het
Mmrn1	T	C	6: 60,953,309 (GRCm39)	I530T	probably benign	Het
Mtss2	A	G	8: 111,452,833 (GRCm39)	Y26C	probably damaging	Het
Myo5a	T	A	9: 75,067,747 (GRCm39)	S600R	probably benign	Het
Myo5a	A	G	9: 75,076,292 (GRCm39)	I836V	probably benign	Het
Naaladl1	A	G	19: 6,159,694 (GRCm39)	D375G	probably damaging	Het
Napepld	T	A	5: 21,888,263 (GRCm39)	D62V	possibly damaging	Het
Nedd9	A	C	13: 41,465,483 (GRCm39)	I719S	possibly damaging	Het
Nes	T	A	3: 87,882,923 (GRCm39)	M394K	probably benign	Het
Nlrc5	A	T	8: 95,231,772 (GRCm39)	Y1288F	possibly damaging	Het
Nlrp14	T	A	7: 106,791,782 (GRCm39)	C822*	probably null	Het
Noa1	A	C	5: 77,457,071 (GRCm39)	L278R	probably damaging	Het
Nop16	A	G	13: 54,737,889 (GRCm39)		probably benign	Het
Odr4	T	C	1: 150,268,659 (GRCm39)		probably benign	Het
Or11h7	A	T	14: 50,891,450 (GRCm39)	Y252F	probably benign	Het
Or5b12	A	G	19: 12,897,229 (GRCm39)	V148A	probably benign	Het
Osbpl10	C	T	9: 114,890,962 (GRCm39)	H117Y	probably benign	Het
Oxct1	A	T	15: 4,077,058 (GRCm39)	E130D	probably benign	Het
Padi2	A	G	4: 140,676,575 (GRCm39)	E571G	possibly damaging	Het
Pcdhac2	G	A	18: 37,278,717 (GRCm39)	V566M	probably benign	Het
Pdcd11	G	A	19: 47,086,659 (GRCm39)	E222K	possibly damaging	Het
Pira12	C	A	7: 3,897,204 (GRCm39)	C544F	probably damaging	Het
Plekha2	A	G	8: 25,578,356 (GRCm39)		probably null	Het
Pogz	T	C	3: 94,777,418 (GRCm39)	L366P	probably benign	Het
Ppp4r3b	A	G	11: 29,138,086 (GRCm39)	I145V	probably benign	Het
Prkcd	A	G	14: 30,320,407 (GRCm39)		probably null	Het
Ptprk	T	A	10: 28,468,853 (GRCm39)	H1438Q	probably damaging	Het
Rbm4	A	T	19: 4,842,650 (GRCm39)	V63E	possibly damaging	Het
Sbk2	T	A	7: 4,961,938 (GRCm39)	H116L	probably damaging	Het
Sdk1	A	G	5: 141,923,434 (GRCm39)	T352A	probably benign	Het
Septin9	T	A	11: 117,250,264 (GRCm39)	C529*	probably null	Het
Setx	T	A	2: 29,038,663 (GRCm39)	V1716D	probably benign	Het
Slc19a3	C	T	1: 82,997,162 (GRCm39)	V349I	probably benign	Het
Slc27a4	C	A	2: 29,695,722 (GRCm39)	R86S	probably benign	Het
Slc4a8	A	G	15: 100,696,059 (GRCm39)	H613R	possibly damaging	Het
Smoc2	A	G	17: 14,545,884 (GRCm39)	R58G	probably damaging	Het
Sphkap	T	A	1: 83,254,021 (GRCm39)	N1243Y	probably damaging	Het
Srsf5	T	C	12: 80,996,720 (GRCm39)	S261P	unknown	Het
Tas2r131	T	A	6: 132,934,705 (GRCm39)	T35S	probably benign	Het
Tasor2	T	C	13: 3,625,714 (GRCm39)	K1412R	possibly damaging	Het
Tigd4	T	A	3: 84,502,310 (GRCm39)	V409E	possibly damaging	Het
Tlr12	T	C	4: 128,510,501 (GRCm39)	Q583R	probably benign	Het
Tmprss9	T	A	10: 80,733,145 (GRCm39)	C894S	unknown	Het
Topaz1	T	A	9: 122,578,250 (GRCm39)	S387T	probably benign	Het
Tsfm	T	C	10: 126,847,558 (GRCm39)	R178G	probably benign	Het
Ttll13	T	C	7: 79,902,875 (GRCm39)	I181T	probably damaging	Het
Ttyh3	T	A	5: 140,610,896 (GRCm39)	K97N		Het
Ubr4	A	G	4: 139,142,394 (GRCm39)	E38G		Het
Ugt2b37	T	C	5: 87,402,118 (GRCm39)	Y171C	probably damaging	Het
Unc5b	C	A	10: 60,601,020 (GRCm39)	M935I	probably benign	Het
Usp34	T	C	11: 23,362,314 (GRCm39)	S1606P		Het
Vmn1r195	T	C	13: 22,463,244 (GRCm39)	L238P	probably damaging	Het
Vmn2r85	T	A	10: 130,261,081 (GRCm39)	M419L	probably benign	Het
Washc2	G	T	6: 116,236,020 (GRCm39)	A1164S	probably benign	Het
Wdfy3	A	T	5: 102,042,940 (GRCm39)	M1937K	probably benign	Het
Wdfy3	A	T	5: 102,099,265 (GRCm39)	L261*	probably null	Het
Wdr64	A	T	1: 175,559,092 (GRCm39)	Y285F	probably benign	Het
Wtap	A	G	17: 13,199,797 (GRCm39)	L62P	probably damaging	Het
Zfp1007	A	C	5: 109,825,170 (GRCm39)	Y93*	probably null	Het
Zfp94	C	A	7: 24,002,498 (GRCm39)	V315F	probably benign	Het
Zhx1	A	T	15: 57,911,798 (GRCm39)		probably null	Het

Other mutations in Tab1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02686:Tab1	APN	15	80,033,031 (GRCm39)	missense	probably benign	0.05
memento	UTSW	15	80,037,869 (GRCm39)	missense	probably damaging	0.96
Memoir	UTSW	15	80,037,941 (GRCm39)	missense	probably damaging	1.00
R0085:Tab1	UTSW	15	80,040,094 (GRCm39)	missense	probably benign	0.00
R1341:Tab1	UTSW	15	80,044,315 (GRCm39)	missense	possibly damaging	0.86
R1835:Tab1	UTSW	15	80,032,497 (GRCm39)	missense	probably benign	0.42
R1907:Tab1	UTSW	15	80,037,869 (GRCm39)	missense	probably damaging	0.96
R3113:Tab1	UTSW	15	80,032,461 (GRCm39)	missense	probably benign	0.23
R3943:Tab1	UTSW	15	80,037,941 (GRCm39)	missense	probably damaging	1.00
R3944:Tab1	UTSW	15	80,037,941 (GRCm39)	missense	probably damaging	1.00
R4845:Tab1	UTSW	15	80,036,964 (GRCm39)	missense	probably damaging	1.00
R5345:Tab1	UTSW	15	80,034,014 (GRCm39)	missense	possibly damaging	0.48
R5696:Tab1	UTSW	15	80,032,930 (GRCm39)	nonsense	probably null
R6223:Tab1	UTSW	15	80,032,464 (GRCm39)	missense	probably damaging	1.00
R6242:Tab1	UTSW	15	80,039,971 (GRCm39)	nonsense	probably null
R6561:Tab1	UTSW	15	80,033,031 (GRCm39)	missense	probably benign	0.05
R7239:Tab1	UTSW	15	80,017,372 (GRCm39)	missense	probably benign	0.15
R7422:Tab1	UTSW	15	80,044,445 (GRCm39)	missense	probably benign	0.00
R7922:Tab1	UTSW	15	80,043,066 (GRCm39)	missense	possibly damaging	0.52
R7951:Tab1	UTSW	15	80,043,058 (GRCm39)	missense	probably damaging	0.98
R8007:Tab1	UTSW	15	80,042,969 (GRCm39)	missense	possibly damaging	0.94
R8037:Tab1	UTSW	15	80,044,471 (GRCm39)	missense	probably benign	0.08
R8038:Tab1	UTSW	15	80,044,471 (GRCm39)	missense	probably benign	0.08
R9221:Tab1	UTSW	15	80,034,754 (GRCm39)	missense	probably benign	0.00
R9273:Tab1	UTSW	15	80,041,904 (GRCm39)	missense	probably benign	0.00
R9590:Tab1	UTSW	15	80,040,097 (GRCm39)	missense	probably damaging	0.97
R9762:Tab1	UTSW	15	80,032,943 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CGTACCAAGGGACATCTACC -3'
(R):5'- TAGGATTTGGTTGCCCAGC -3'

Sequencing Primer
(F):5'- GACATCTACCCTGGGCCAC -3'
(R):5'- ATTTGGTTGCCCAGCTGTTTC -3'

Posted On

2019-11-26