Mutagenetix > Incidental Mutation

Incidental Mutation 'R8897:Tab2'

678116

Institutional Source

Beutler Lab

Gene Symbol

Tab2

Ensembl Gene

ENSMUSG00000015755

Gene Name

TGF-beta activated kinase 1/MAP3K7 binding protein 2

Synonyms

1110030N06Rik, Map3k7ip2, A530078N03Rik, Tak1 binding protein 2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7781417-7831994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7786897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 605 (D605G)

Ref Sequence

ENSEMBL: ENSMUSP00000121266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000146444] [ENSMUST00000147938]

AlphaFold

Q99K90

PDB Structure

Crystal structure of the mouse TAB2-NZF in complex with Lys63-linked di-ubiquitin [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000146444
AA Change: D605G

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

SMART Domains

Protein: ENSMUSP00000121266
Gene: ENSMUSG00000015755
AA Change: D605G

Domain	Start	End	E-Value	Type
CUE	8	50	1.15e-10	SMART
low complexity region	286	311	N/A	INTRINSIC
coiled coil region	532	619	N/A	INTRINSIC
ZnF_RBZ	666	690	1.91e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000147938

SMART Domains

Protein: ENSMUSP00000119515
Gene: ENSMUSG00000015755

Domain	Start	End	E-Value	Type
CUE	8	50	1.15e-10	SMART
low complexity region	286	311	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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 is an activator of MAP3K7/TAK1, which is required for for the IL-1 induced activation of nuclear factor kappaB and MAPK8/JNK. This protein forms a kinase complex with TRAF6, MAP3K7 and TAB1, and it thus serves as an adaptor that links MAP3K7 and TRAF6. This protein, along with TAB1 and MAP3K7, also participates in the signal transduction induced by TNFSF11/RANKl through the activation of the receptor activator of NF-kappaB (TNFRSF11A/RANK), which may regulate the development and function of osteoclasts. Studies of the related mouse protein indicate that it functions to protect against liver damage caused by chemical stressors. Mutations in this gene cause congenital heart defects, multiple types, 2 (CHTD2). Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
PHENOTYPE: Embryos homozygous for a knock-out allele are viable up to E9.5. Embryos homozygous for a different knock-out allele are normal and viable up to E11.5 but become pale and anemic, exhibit liver hemorrhage and increased apoptosis of hepatoblasts, and die by E12.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,934 (GRCm39)	L329Q	probably damaging	Het
Adam26b	A	T	8: 43,974,009 (GRCm39)	M331K	possibly damaging	Het
Ak3	T	C	19: 29,025,118 (GRCm39)	S38G	probably damaging	Het
Ankrd10	A	T	8: 11,665,788 (GRCm39)	C271S	possibly damaging	Het
Ap1s3	A	G	1: 79,601,494 (GRCm39)	Y66H	probably damaging	Het
Ap4b1	A	T	3: 103,729,065 (GRCm39)	I736L	probably benign	Het
Arpp19	T	A	9: 74,963,948 (GRCm39)	M67K	possibly damaging	Het
Brf1	T	G	12: 112,951,589 (GRCm39)	H130P	probably damaging	Het
Cacna1s	C	G	1: 136,045,392 (GRCm39)	T1680S	probably benign	Het
Cckar	C	T	5: 53,864,583 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,532 (GRCm39)	K605E	probably benign	Het
Cdcp3	T	C	7: 130,867,566 (GRCm39)	M1409T	unknown	Het
Ces1h	C	T	8: 94,080,093 (GRCm39)	V474I	unknown	Het
Cfap70	A	T	14: 20,493,669 (GRCm39)		probably null	Het
Ch25h	G	A	19: 34,452,441 (GRCm39)	T29I	possibly damaging	Het
Csmd3	T	A	15: 48,222,739 (GRCm39)	T329S	probably benign	Het
Cux1	T	C	5: 136,315,623 (GRCm39)	N1139S	probably damaging	Het
Cyp2j6	G	T	4: 96,414,087 (GRCm39)	H393N	probably benign	Het
Cyp8b1	C	A	9: 121,745,358 (GRCm39)		probably benign	Het
Dchs2	T	G	3: 83,036,720 (GRCm39)	L489R	probably damaging	Het
Dip2a	T	C	10: 76,110,098 (GRCm39)	T1173A	probably benign	Het
Exoc3l2	T	G	7: 19,203,931 (GRCm39)		probably null	Het
Fastkd3	G	A	13: 68,732,303 (GRCm39)	R208H	probably damaging	Het
Fbxo16	C	A	14: 65,531,287 (GRCm39)	R64S	probably benign	Het
Frem3	A	T	8: 81,339,419 (GRCm39)	I571F	probably damaging	Het
Ftsj3	T	A	11: 106,144,602 (GRCm39)	D129V	probably damaging	Het
Gm6370	A	G	5: 146,430,447 (GRCm39)	T211A	probably benign	Het
Gpr171	A	T	3: 59,005,116 (GRCm39)	S220T	probably benign	Het
Gsta3	T	C	1: 21,330,370 (GRCm39)	I124T	probably benign	Het
Hydin	A	G	8: 111,316,112 (GRCm39)	I4335V	probably benign	Het
Ift80	T	C	3: 68,857,809 (GRCm39)	I279V	probably benign	Het
Ighv1-13	T	A	12: 114,594,439 (GRCm39)	M47K	unknown	Het
Il22ra2	A	G	10: 19,507,401 (GRCm39)	N138S	probably damaging	Het
Impact	A	G	18: 13,123,551 (GRCm39)	D298G	probably benign	Het
Ipo7	T	C	7: 109,643,943 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,225,437 (GRCm39)	N198D	probably damaging	Het
Klhl36	A	G	8: 120,597,279 (GRCm39)	T327A	probably benign	Het
Lepr	A	G	4: 101,649,233 (GRCm39)	N878S	probably damaging	Het
Lpxn	T	A	19: 12,802,525 (GRCm39)	F244L	probably damaging	Het
Lrriq4	C	A	3: 30,709,807 (GRCm39)	L384I	probably damaging	Het
Ltbp4	A	C	7: 27,026,119 (GRCm39)	I629S	probably benign	Het
Lypd5	T	C	7: 24,051,015 (GRCm39)	V42A	probably benign	Het
Mc4r	A	G	18: 66,992,304 (GRCm39)	S270P	probably damaging	Het
Mctp2	T	G	7: 71,909,311 (GRCm39)	M1L	probably benign	Het
Myh4	G	A	11: 67,137,362 (GRCm39)	E528K	possibly damaging	Het
Nes	T	A	3: 87,886,653 (GRCm39)	H1637Q	possibly damaging	Het
Or4f7	T	C	2: 111,644,576 (GRCm39)	D165G	probably benign	Het
Or5g25	A	T	2: 85,478,187 (GRCm39)	H159Q	possibly damaging	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Pan3	T	C	5: 147,387,472 (GRCm39)	M147T	probably benign	Het
Pcdhga6	G	T	18: 37,841,642 (GRCm39)	R454L	probably benign	Het
Pdss2	A	G	10: 43,221,663 (GRCm39)	S192G	probably damaging	Het
Pld6	A	T	11: 59,678,382 (GRCm39)	M27K	probably benign	Het
Plec	C	T	15: 76,057,598 (GRCm39)	R4113H	probably damaging	Het
Ptprk	T	C	10: 28,467,953 (GRCm39)	S1379P	probably damaging	Het
Rapgef2	T	C	3: 79,019,566 (GRCm39)	H35R	probably damaging	Het
Rasgrp2	A	G	19: 6,453,100 (GRCm39)	T75A	probably benign	Het
Rexo1	A	G	10: 80,378,437 (GRCm39)	L1172P	probably damaging	Het
Rfx7	C	T	9: 72,525,123 (GRCm39)	S771L	probably benign	Het
Rpap3	A	G	15: 97,585,998 (GRCm39)	I331T	probably benign	Het
Scn2a	A	G	2: 65,546,002 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,354,467 (GRCm39)	V241D	probably benign	Het
Sez6l	C	A	5: 112,588,744 (GRCm39)	Q656H	possibly damaging	Het
Sh3gl2	A	T	4: 85,273,597 (GRCm39)	I50L	probably benign	Het
Tas2r110	T	A	6: 132,845,374 (GRCm39)	V135D	probably damaging	Het
Thap12	T	C	7: 98,364,534 (GRCm39)	M234T	probably benign	Het
Trhr	C	A	15: 44,060,736 (GRCm39)	D85E	probably benign	Het
Trim67	A	G	8: 125,552,718 (GRCm39)	I607V	probably benign	Het
Trpm4	C	T	7: 44,960,055 (GRCm39)	C760Y	probably benign	Het
Ttll9	T	C	2: 152,844,841 (GRCm39)	V403A	probably damaging	Het
Uhrf1	T	C	17: 56,617,817 (GRCm39)	Y180H	probably damaging	Het
Unc119b	C	T	5: 115,272,977 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,381,242 (GRCm39)	D217V	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zscan4-ps3	A	T	7: 11,346,767 (GRCm39)	R268*	probably null	Het

Other mutations in Tab2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00964:Tab2	APN	10	7,785,837 (GRCm39)	missense	probably benign	0.21
IGL01316:Tab2	APN	10	7,800,468 (GRCm39)	missense	probably damaging	1.00
IGL01902:Tab2	APN	10	7,795,756 (GRCm39)	missense	probably benign	0.12
IGL03338:Tab2	APN	10	7,795,039 (GRCm39)	missense	probably damaging	1.00
Cosmo	UTSW	10	7,800,483 (GRCm39)	missense	probably damaging	1.00
Cosmo-2	UTSW	10	7,783,245 (GRCm39)	missense	probably damaging	1.00
R0068:Tab2	UTSW	10	7,795,441 (GRCm39)	missense	probably damaging	1.00
R0068:Tab2	UTSW	10	7,795,441 (GRCm39)	missense	probably damaging	1.00
R0271:Tab2	UTSW	10	7,794,922 (GRCm39)	missense	probably benign
R0458:Tab2	UTSW	10	7,795,319 (GRCm39)	missense	probably damaging	1.00
R0608:Tab2	UTSW	10	7,795,883 (GRCm39)	missense	probably damaging	0.99
R0632:Tab2	UTSW	10	7,795,565 (GRCm39)	missense	probably benign	0.07
R0744:Tab2	UTSW	10	7,783,345 (GRCm39)	unclassified	probably benign
R1162:Tab2	UTSW	10	7,800,483 (GRCm39)	missense	probably damaging	1.00
R1424:Tab2	UTSW	10	7,795,812 (GRCm39)	missense	possibly damaging	0.86
R1954:Tab2	UTSW	10	7,795,094 (GRCm39)	missense	probably damaging	1.00
R2516:Tab2	UTSW	10	7,783,245 (GRCm39)	missense	probably damaging	1.00
R2518:Tab2	UTSW	10	7,783,245 (GRCm39)	missense	probably damaging	1.00
R2520:Tab2	UTSW	10	7,783,245 (GRCm39)	missense	probably damaging	1.00
R3418:Tab2	UTSW	10	7,783,245 (GRCm39)	missense	probably damaging	1.00
R4081:Tab2	UTSW	10	7,795,595 (GRCm39)	missense	probably damaging	1.00
R4177:Tab2	UTSW	10	7,795,123 (GRCm39)	missense	probably damaging	1.00
R4178:Tab2	UTSW	10	7,795,123 (GRCm39)	missense	probably damaging	1.00
R5410:Tab2	UTSW	10	7,795,585 (GRCm39)	missense	possibly damaging	0.86
R5681:Tab2	UTSW	10	7,795,837 (GRCm39)	missense	probably damaging	1.00
R5683:Tab2	UTSW	10	7,794,876 (GRCm39)	critical splice donor site	probably null
R6857:Tab2	UTSW	10	7,796,177 (GRCm39)	missense	possibly damaging	0.50
R7424:Tab2	UTSW	10	7,783,247 (GRCm39)	missense	probably damaging	1.00
R7692:Tab2	UTSW	10	7,786,869 (GRCm39)	missense	probably damaging	1.00
R7790:Tab2	UTSW	10	7,796,188 (GRCm39)	missense	probably damaging	1.00
R7792:Tab2	UTSW	10	7,794,897 (GRCm39)	missense	possibly damaging	0.50
R9014:Tab2	UTSW	10	7,794,920 (GRCm39)	missense	probably damaging	1.00
R9482:Tab2	UTSW	10	7,795,124 (GRCm39)	missense	probably damaging	1.00
R9616:Tab2	UTSW	10	7,795,005 (GRCm39)	missense	possibly damaging	0.88
R9733:Tab2	UTSW	10	7,795,214 (GRCm39)	missense	possibly damaging	0.69
Z1088:Tab2	UTSW	10	7,796,030 (GRCm39)	missense	possibly damaging	0.88
Z1177:Tab2	UTSW	10	7,794,943 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACCAGGTACATATTTACTGAGGG -3'
(R):5'- CCACAGTGTAAAGGCTTGCTC -3'

Sequencing Primer
(F):5'- GCAAAGAAGCCAACTGTTCTTTAGC -3'
(R):5'- AAAGGCTTGCTCTAGTTTTCTGCAG -3'

Posted On

2021-08-02