Mutagenetix > Incidental Mutation

Incidental Mutation 'R3944:Tab1'

307619

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

040925-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3944 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80017333-80045908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80037941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 258 (L258P)

Ref Sequence

ENSEMBL: ENSMUSP00000023050 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023050] [ENSMUST00000229320]

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 damaging
Transcript: ENSMUST00000023050
AA Change: L258P

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

SMART Domains

Protein: ENSMUSP00000023050
Gene: ENSMUSG00000022414
AA Change: L258P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000229320

Meta Mutation Damage Score

0.6513

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
6430548M08Rik	T	C	8: 120,879,241 (GRCm39)	L213P	probably damaging	Het
Akap12	A	G	10: 4,307,347 (GRCm39)	K1491E	probably benign	Het
Akr1c12	T	A	13: 4,329,339 (GRCm39)	H6L	probably benign	Het
Ankrd50	C	T	3: 38,506,645 (GRCm39)	C251Y	probably benign	Het
Bltp1	A	G	3: 37,084,210 (GRCm39)	I3876V	possibly damaging	Het
Bltp2	T	A	11: 78,160,350 (GRCm39)	L603*	probably null	Het
Calu	T	C	6: 29,361,710 (GRCm39)	S125P	possibly damaging	Het
Cdh10	A	G	15: 18,964,335 (GRCm39)	T166A	probably benign	Het
Clip1	T	C	5: 123,755,892 (GRCm39)		probably benign	Het
Cntn4	T	G	6: 106,595,375 (GRCm39)	N497K	probably benign	Het
Cspg4	T	A	9: 56,793,407 (GRCm39)	C381S	probably damaging	Het
Cyp1a2	T	C	9: 57,589,151 (GRCm39)	N221S	probably benign	Het
Dnaaf5	C	T	5: 139,138,679 (GRCm39)		probably benign	Het
Dnah7b	A	G	1: 46,176,645 (GRCm39)	D755G	probably damaging	Het
Dscam	A	T	16: 96,622,197 (GRCm39)	V418E	probably damaging	Het
Eefsec	T	A	6: 88,275,076 (GRCm39)	H296L	probably benign	Het
Elmo3	T	C	8: 106,035,852 (GRCm39)		probably null	Het
Gcm1	C	T	9: 77,967,098 (GRCm39)	Q106*	probably null	Het
Gnl1	G	T	17: 36,299,413 (GRCm39)	G528V	probably benign	Het
Gpat4	G	A	8: 23,670,171 (GRCm39)	P286L	probably damaging	Het
H2-T23	A	G	17: 36,341,535 (GRCm39)	V312A	probably benign	Het
Hectd4	C	A	5: 121,441,588 (GRCm39)		probably benign	Het
Hoxa7	T	A	6: 52,193,606 (GRCm39)		probably benign	Het
Ifnlr1	T	A	4: 135,428,539 (GRCm39)	V122E	probably damaging	Het
Kcnt2	T	C	1: 140,512,025 (GRCm39)	M1036T	probably damaging	Het
Khdc1b	G	T	1: 21,455,030 (GRCm39)	K96N	probably damaging	Het
Kif19a	A	T	11: 114,677,561 (GRCm39)	Y578F	probably benign	Het
Krt4	G	A	15: 101,829,685 (GRCm39)	T281M	probably benign	Het
Lyl1	A	C	8: 85,430,631 (GRCm39)	T178P	probably damaging	Het
Marchf6	A	G	15: 31,488,960 (GRCm39)	V317A	probably benign	Het
Mmp1b	G	A	9: 7,384,708 (GRCm39)	T280I	possibly damaging	Het
Mpi	T	C	9: 57,452,536 (GRCm39)	D332G	probably damaging	Het
Naip6	T	C	13: 100,431,247 (GRCm39)	T1197A	probably benign	Het
Ntng2	G	A	2: 29,094,289 (GRCm39)	L361F	probably benign	Het
Obscn	A	T	11: 59,023,373 (GRCm39)	I668N	probably damaging	Het
Or52x1	A	T	7: 104,853,162 (GRCm39)	C129*	probably null	Het
Or8k40	A	G	2: 86,584,525 (GRCm39)	S186P	probably benign	Het
Pabpc1l	A	G	2: 163,884,247 (GRCm39)	E328G	probably damaging	Het
Pan3	A	T	5: 147,387,540 (GRCm39)	N170Y	probably damaging	Het
Prdm2	C	T	4: 142,858,385 (GRCm39)	R1635Q	possibly damaging	Het
Rassf6	G	T	5: 90,752,185 (GRCm39)	Q258K	possibly damaging	Het
Ribc2	A	G	15: 85,019,451 (GRCm39)	M78V	probably benign	Het
Rp9	A	C	9: 22,361,154 (GRCm39)	H44Q	probably damaging	Het
Skint5	T	A	4: 113,799,950 (GRCm39)	H73L	probably damaging	Het
Slc6a12	A	T	6: 121,331,239 (GRCm39)		probably null	Het
Smg6	G	A	11: 74,820,367 (GRCm39)	G213R	probably damaging	Het
Spout1	A	G	2: 30,064,148 (GRCm39)	V372A	probably benign	Het
Svep1	T	A	4: 58,084,807 (GRCm39)		probably null	Het
Tbl3	A	G	17: 24,919,682 (GRCm39)	S791P	possibly damaging	Het
Tcof1	C	A	18: 60,955,909 (GRCm39)	D927Y	probably damaging	Het
Tmem59l	A	G	8: 70,939,951 (GRCm39)	L6S	unknown	Het
Topaz1	T	C	9: 122,579,669 (GRCm39)	S860P	possibly damaging	Het
Vill	T	C	9: 118,897,499 (GRCm39)	I258T	probably benign	Het
Vmn1r204	G	A	13: 22,741,014 (GRCm39)	R215H	probably benign	Het
Vmn2r106	A	T	17: 20,487,913 (GRCm39)	F829I	probably damaging	Het
Vmn2r14	A	T	5: 109,363,930 (GRCm39)	I662N	probably damaging	Het
Vmn2r58	A	T	7: 41,513,885 (GRCm39)	F253I	probably benign	Het
Vps8	A	T	16: 21,288,873 (GRCm39)	N411Y	probably damaging	Het
Zfp932	T	A	5: 110,157,820 (GRCm39)	V506E	probably benign	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
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
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'- TGTAGGCGGAGACCTGTTAG -3'
(R):5'- AGCTCACAGGATCAGACTGC -3'

Sequencing Primer
(F):5'- TGTGACTCTCCATCATGACAGGG -3'
(R):5'- TCAGACTGCTGACCTAGGC -3'

Posted On

2015-04-17