Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Tab1'

505326

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

044434-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6242 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80017333-80045908 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 80039971 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 264 (K264*)

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

probably null
Transcript: ENSMUST00000023050
AA Change: K264*

SMART Domains

Protein: ENSMUSP00000023050
Gene: ENSMUSG00000022414
AA Change: K264*

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy6	G	T	15: 98,501,896 (GRCm39)	C239*	probably null	Het
Akr1c6	A	G	13: 4,486,361 (GRCm39)	Q56R	probably benign	Het
Apaf1	T	A	10: 90,898,025 (GRCm39)	D244V	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,635,385 (GRCm39)	A898E	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,621,545 (GRCm39)	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,630,910 (GRCm39)	V226F	probably benign	Het
Cfap68	C	T	9: 50,675,215 (GRCm39)	E148K	probably benign	Het
Cntnap1	A	T	11: 101,073,364 (GRCm39)	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,376,053 (GRCm39)	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,502,427 (GRCm39)	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,311,587 (GRCm39)	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha6	A	T	16: 59,503,025 (GRCm39)	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,188,695 (GRCm39)	E475G	probably damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fancm	A	T	12: 65,163,216 (GRCm39)	Q1460L	probably benign	Het
Fancm	C	A	12: 65,163,223 (GRCm39)	N1462K	probably benign	Het
Fgf14	T	C	14: 124,913,940 (GRCm39)	K64E	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Garem1	C	G	18: 21,262,229 (GRCm39)	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,812,013 (GRCm39)	G814R	probably damaging	Het
Hacd4	A	G	4: 88,332,524 (GRCm39)	S226P	probably benign	Het
Htt	A	G	5: 35,003,356 (GRCm39)	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,743,062 (GRCm39)	D107V	probably damaging	Het
Iqcc	T	C	4: 129,510,639 (GRCm39)	D292G	probably damaging	Het
Krtap13	C	T	16: 88,548,384 (GRCm39)	V35I	probably damaging	Het
Liat1	T	C	11: 75,890,981 (GRCm39)	S32P	probably damaging	Het
Lrrc59	G	T	11: 94,525,809 (GRCm39)	L132F	possibly damaging	Het
Mcub	T	C	3: 129,709,444 (GRCm39)	S290G	probably benign	Het
Mettl4	A	G	17: 95,042,802 (GRCm39)	W345R	probably damaging	Het
Msgn1	G	A	12: 11,258,526 (GRCm39)	R142W	probably damaging	Het
Myo5c	A	G	9: 75,180,893 (GRCm39)	I761V	probably benign	Het
Neb	T	A	2: 52,066,824 (GRCm39)	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,970,905 (GRCm39)	V226M	probably damaging	Het
Nt5el	T	A	13: 105,246,048 (GRCm39)	V203E	probably benign	Het
Or51a24	T	G	7: 103,733,771 (GRCm39)	H172P	possibly damaging	Het
Or5b106	T	A	19: 13,123,450 (GRCm39)	H191L	probably benign	Het
Parp4	T	A	14: 56,832,856 (GRCm39)	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,876,608 (GRCm39)	V439I	probably benign	Het
Pde1a	T	A	2: 79,959,136 (GRCm39)	T15S	probably benign	Het
Pgr	T	A	9: 8,900,980 (GRCm39)	I171N	probably benign	Het
Podxl	T	A	6: 31,503,180 (GRCm39)	D296V	probably benign	Het
Polr3e	A	T	7: 120,539,690 (GRCm39)	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,252,548 (GRCm39)	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,326,538 (GRCm39)	K5*	probably null	Het
Prph	A	G	15: 98,955,004 (GRCm39)	S325G	probably damaging	Het
Rabl2	C	A	15: 89,468,555 (GRCm39)	W49L	probably benign	Het
Rbbp8nl	T	A	2: 179,922,767 (GRCm39)	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn7a	T	C	2: 66,531,110 (GRCm39)	D589G	probably benign	Het
Sdr42e1	A	T	8: 118,389,936 (GRCm39)	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,082,260 (GRCm39)	M11T	probably benign	Het
Slc6a4	A	T	11: 76,909,184 (GRCm39)	K399*	probably null	Het
Slco4c1	T	A	1: 96,767,008 (GRCm39)	T337S	probably damaging	Het
Spc25	A	T	2: 69,027,555 (GRCm39)	F112L	probably damaging	Het
Swt1	A	G	1: 151,283,365 (GRCm39)	S331P	probably benign	Het
Tagln3	T	A	16: 45,544,701 (GRCm39)		probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbck	A	G	3: 132,400,189 (GRCm39)	D80G	probably benign	Het
Tcim	A	T	8: 24,928,911 (GRCm39)	M1K	probably null	Het
Thap2	A	G	10: 115,208,831 (GRCm39)	S37P	unknown	Het
Tjp2	A	T	19: 24,076,967 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,533,145 (GRCm39)	S2390L	probably damaging	Het
Trpm5	T	G	7: 142,626,919 (GRCm39)	I1101L	probably benign	Het
Ttc3	T	G	16: 94,243,554 (GRCm39)	M831R	probably benign	Het
Tulp3	A	G	6: 128,300,050 (GRCm39)	C459R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800 (GRCm39)	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,666,691 (GRCm39)	L549P	probably benign	Het
Usp10	G	T	8: 120,668,577 (GRCm39)	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,681,359 (GRCm39)	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Wif1	T	C	10: 120,870,366 (GRCm39)	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,740,867 (GRCm39)	R6C	possibly damaging	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
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
R7810:Tab1	UTSW	15	80,042,999 (GRCm39)	missense	possibly damaging	0.86
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'- ACCCTGGGCTTTACTTTAGTGG -3'
(R):5'- GTCTAGTGACAGCATCTGGG -3'

Sequencing Primer
(F):5'- CTTTAGTGGCTGGCCTCAGAGAC -3'
(R):5'- TCTAGTGACAGCATCTGGGAATCAG -3'

Posted On

2018-02-28