Mutagenetix > Incidental Mutation

Incidental Mutation 'R9221:Tab1'

699489

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9221 (G1)

Quality Score

123.008

Status

Not validated

Chromosome

Chromosomal Location

80017333-80045908 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80034754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 180 (V180I)

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 benign
Transcript: ENSMUST00000023050
AA Change: V180I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000023050
Gene: ENSMUSG00000022414
AA Change: V180I

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,921,828 (GRCm39)	D1128G	probably damaging	Het
Acsm3	A	T	7: 119,368,131 (GRCm39)	R116*	probably null	Het
Acte1	G	T	7: 143,434,902 (GRCm39)		probably null	Het
Ahnak	T	A	19: 8,989,943 (GRCm39)	D3742E	probably damaging	Het
Arhgef17	A	G	7: 100,528,818 (GRCm39)	S598P	possibly damaging	Het
Asxl2	T	C	12: 3,552,310 (GRCm39)	F1351L	probably damaging	Het
Atg7	C	T	6: 114,672,588 (GRCm39)	T267I	possibly damaging	Het
Bace2	A	G	16: 97,209,692 (GRCm39)	K202R	probably benign	Het
Bccip	G	T	7: 133,311,249 (GRCm39)	V55L	probably benign	Het
Bpifa1	T	A	2: 153,988,052 (GRCm39)	H198Q	possibly damaging	Het
Btbd7	A	G	12: 102,777,430 (GRCm39)	Y466H	probably damaging	Het
Cdc45	A	C	16: 18,605,521 (GRCm39)	S480A	probably benign	Het
Cenpe	T	C	3: 134,935,839 (GRCm39)	Y425H	possibly damaging	Het
Cep76	A	C	18: 67,767,977 (GRCm39)	M185R	probably damaging	Het
Chd5	G	T	4: 152,456,122 (GRCm39)	M930I	probably damaging	Het
Clstn2	G	T	9: 97,343,395 (GRCm39)	T684K	probably benign	Het
Col4a2	A	G	8: 11,491,943 (GRCm39)	N1270S	possibly damaging	Het
Crxos	A	G	7: 15,636,850 (GRCm39)	H141R	probably benign	Het
Dcc	A	G	18: 71,553,433 (GRCm39)	I741T	possibly damaging	Het
Ddx20	A	T	3: 105,587,685 (GRCm39)	C430*	probably null	Het
Dgki	G	A	6: 37,273,615 (GRCm39)	T12M	probably benign	Het
Dock6	T	C	9: 21,721,153 (GRCm39)	N1676S	possibly damaging	Het
Exosc6	G	A	8: 111,783,028 (GRCm39)	R9H	probably damaging	Het
Fstl5	A	G	3: 76,569,114 (GRCm39)	Q589R	probably damaging	Het
Gm4846	T	A	1: 166,324,959 (GRCm39)	Y44F	probably benign	Het
Gpr15lg	A	G	14: 36,829,352 (GRCm39)	S44P	probably damaging	Het
Gtf3c2	A	C	5: 31,326,401 (GRCm39)	I370R	probably damaging	Het
Hjurp	CTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCT	C	1: 88,193,999 (GRCm39)		probably benign	Het
Hspg2	A	G	4: 137,287,726 (GRCm39)	M3696V	possibly damaging	Het
Itga1	A	T	13: 115,166,695 (GRCm39)	C167*	probably null	Het
Khdc4	T	C	3: 88,593,853 (GRCm39)	S81P	probably benign	Het
Kpna2	A	G	11: 106,880,158 (GRCm39)	S497P	probably damaging	Het
Krt77	T	A	15: 101,774,064 (GRCm39)	T197S	probably damaging	Het
Krtap6-5	T	C	16: 88,844,655 (GRCm39)	Y26C	unknown	Het
Lhfpl5	A	T	17: 28,799,133 (GRCm39)	D214V	possibly damaging	Het
Lrrtm1	A	G	6: 77,221,596 (GRCm39)	E351G	probably damaging	Het
Mphosph9	A	G	5: 124,403,427 (GRCm39)	V867A	probably benign	Het
Mtcl1	T	A	17: 66,650,879 (GRCm39)	M1529L	probably benign	Het
Mthfr	A	T	4: 148,132,626 (GRCm39)	Q268L	probably damaging	Het
Myo1d	A	T	11: 80,565,744 (GRCm39)	N360K	probably damaging	Het
Nbea	AC	A	3: 55,998,393 (GRCm39)		probably null	Het
Or1e33	A	T	11: 73,738,108 (GRCm39)	V281E	probably damaging	Het
Or4p8	T	C	2: 88,727,255 (GRCm39)	S229G	probably benign	Het
Or5an1b	A	T	19: 12,299,336 (GRCm39)	M285K	probably damaging	Het
Or5m11	T	A	2: 85,782,185 (GRCm39)	Y259*	probably null	Het
P2rx5	A	T	11: 73,062,655 (GRCm39)	T455S	probably damaging	Het
Palld	A	T	8: 61,969,591 (GRCm39)	F1244L	unknown	Het
Pbld1	A	G	10: 62,907,829 (GRCm39)	T125A		Het
Pde3b	G	A	7: 114,014,697 (GRCm39)		probably benign	Het
Pfkm	T	C	15: 98,019,188 (GRCm39)	S180P	probably damaging	Het
Pla2g4d	T	A	2: 120,100,453 (GRCm39)	R626S	possibly damaging	Het
Postn	A	G	3: 54,282,515 (GRCm39)	E492G	possibly damaging	Het
Prph2	A	G	17: 47,230,818 (GRCm39)	D237G	probably damaging	Het
Psmd4	T	C	3: 94,942,604 (GRCm39)	H105R	probably damaging	Het
Pygl	T	C	12: 70,242,401 (GRCm39)	N685S	probably damaging	Het
Rp1	A	G	1: 4,315,266 (GRCm39)	F502S	unknown	Het
Sik1	T	C	17: 32,066,167 (GRCm39)	I607V	probably benign	Het
Slc26a3	T	A	12: 31,513,470 (GRCm39)	I464N	possibly damaging	Het
Slc38a9	A	G	13: 112,825,910 (GRCm39)	N116S	probably damaging	Het
Sorcs2	C	A	5: 36,181,910 (GRCm39)		probably null	Het
Spink5	T	C	18: 44,119,367 (GRCm39)	L226P	probably damaging	Het
Tacc2	T	G	7: 130,226,058 (GRCm39)	S914R	probably damaging	Het
Tacc2	C	T	7: 130,226,209 (GRCm39)	R965C	probably benign	Het
Tlr9	A	G	9: 106,101,972 (GRCm39)	D421G	probably damaging	Het
Tmem181a	T	C	17: 6,307,265 (GRCm39)	L16P	probably damaging	Het
Trim58	A	T	11: 58,542,075 (GRCm39)	H345L	probably damaging	Het
Ttc13	G	A	8: 125,400,290 (GRCm39)	R688C	probably benign	Het
Ube2o	C	A	11: 116,433,664 (GRCm39)	V685L	probably damaging	Het
Uso1	A	G	5: 92,335,173 (GRCm39)	H511R	probably benign	Het
Vmn2r5	A	T	3: 64,411,721 (GRCm39)	Y282*	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
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
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'- TGCATGCTTTGTCCCAAGGG -3'
(R):5'- ATGTAGGCGAACCACCTATCC -3'

Sequencing Primer
(F):5'- AAGCTAAGGTGGCCCTCAAGC -3'
(R):5'- ACCTGGGATTGACAGACA -3'

Posted On

2022-02-07