Mutagenetix > Incidental Mutation

Incidental Mutation 'R0608:Tab2'

54417

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

MMRRC Submission

038797-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0608 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7781417-7831994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7795883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 126 (V126I)

Ref Sequence

ENSEMBL: ENSMUSP00000122559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000130322] [ENSMUST00000146444] [ENSMUST00000147938]

AlphaFold

Q99K90

Predicted Effect

probably damaging
Transcript: ENSMUST00000130322
AA Change: V126I

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122559
Gene: ENSMUSG00000015755
AA Change: V126I

Domain	Start	End	E-Value	Type
low complexity region	212	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146444
AA Change: V200I

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000121266
Gene: ENSMUSG00000015755
AA Change: V200I

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
AA Change: V200I

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119515
Gene: ENSMUSG00000015755
AA Change: V200I

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: 99.4%
3x: 99.0%
10x: 97.7%
20x: 95.7%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	G	14: 78,748,193 (GRCm39)	V1398A	probably benign	Het
Ampd3	C	A	7: 110,394,997 (GRCm39)	D315E	probably damaging	Het
Ampd3	T	A	7: 110,394,998 (GRCm39)	F316I	probably damaging	Het
Arhgef40	A	C	14: 52,234,431 (GRCm39)	E911D	probably damaging	Het
Atxn2l	A	G	7: 126,100,588 (GRCm39)		probably null	Het
Bckdhb	T	G	9: 83,835,789 (GRCm39)	F98V	probably damaging	Het
Calhm1	C	T	19: 47,132,280 (GRCm39)	V112I	probably benign	Het
Ccdc28a	G	A	10: 18,100,699 (GRCm39)	R90C	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Cds1	G	A	5: 101,962,299 (GRCm39)	V305M	probably damaging	Het
Cep128	T	G	12: 90,966,309 (GRCm39)		probably benign	Het
Cep72	A	T	13: 74,186,423 (GRCm39)	H249Q	probably damaging	Het
Cfap70	A	T	14: 20,498,631 (GRCm39)	Y19N	probably damaging	Het
Col11a1	T	C	3: 114,012,364 (GRCm39)		probably benign	Het
Cstdc6	T	C	16: 36,143,386 (GRCm39)		probably null	Het
Cysltr1	A	G	X: 105,622,261 (GRCm39)	V75A	possibly damaging	Het
Dnaaf11	T	A	15: 66,252,323 (GRCm39)	M448L	probably benign	Het
Dnah17	G	T	11: 117,981,575 (GRCm39)	Y1716*	probably null	Het
Dnm1	T	C	2: 32,225,836 (GRCm39)	E383G	possibly damaging	Het
Dst	C	A	1: 34,329,437 (GRCm39)		probably null	Het
Edil3	T	C	13: 89,332,968 (GRCm39)	S375P	probably damaging	Het
Eme1	A	G	11: 94,540,908 (GRCm39)	C277R	probably damaging	Het
Enam	T	C	5: 88,640,886 (GRCm39)	W183R	possibly damaging	Het
Fbxl6	C	T	15: 76,420,953 (GRCm39)	V341M	probably benign	Het
Fgf14	A	G	14: 124,914,015 (GRCm39)	S39P	probably damaging	Het
Fmo4	C	T	1: 162,631,220 (GRCm39)	R249H	possibly damaging	Het
Gle1	T	A	2: 29,830,240 (GRCm39)	D265E	probably benign	Het
Gml2	T	C	15: 74,693,235 (GRCm39)		probably null	Het
Golgb1	G	T	16: 36,736,692 (GRCm39)	E1980*	probably null	Het
Hap1	A	G	11: 100,240,131 (GRCm39)	L555P	probably damaging	Het
Heca	T	C	10: 17,791,039 (GRCm39)	D339G	possibly damaging	Het
Hepacam2	T	C	6: 3,483,479 (GRCm39)	T101A	possibly damaging	Het
Ift88	T	C	14: 57,733,678 (GRCm39)	V707A	probably benign	Het
Kdm3a	C	T	6: 71,597,030 (GRCm39)	G252D	probably benign	Het
Klhl11	A	G	11: 100,363,068 (GRCm39)	Y163H	probably damaging	Het
Kntc1	A	T	5: 123,924,137 (GRCm39)	N1008Y	probably damaging	Het
Lrp2	G	T	2: 69,316,587 (GRCm39)	N2131K	probably benign	Het
Magi3	C	G	3: 103,924,873 (GRCm39)	G1092A	probably damaging	Het
Mef2a	G	T	7: 66,884,896 (GRCm39)	S406*	probably null	Het
Minar2	A	G	18: 59,195,531 (GRCm39)		probably null	Het
Mrps26	G	T	2: 130,405,778 (GRCm39)	R27L	possibly damaging	Het
Myof	T	C	19: 37,904,952 (GRCm39)	D1624G	probably damaging	Het
Naif1	T	C	2: 32,344,908 (GRCm39)	M204T	probably benign	Het
Ndufb8	T	C	19: 44,538,784 (GRCm39)	E179G	possibly damaging	Het
Neb	A	T	2: 52,216,769 (GRCm39)	D135E	probably benign	Het
Nlrp6	C	T	7: 140,503,399 (GRCm39)	Q502*	probably null	Het
Nploc4	A	G	11: 120,304,507 (GRCm39)	L238P	probably damaging	Het
Obi1	T	C	14: 104,716,963 (GRCm39)	Y470C	probably damaging	Het
Or4d2	G	A	11: 87,784,022 (GRCm39)	H243Y	probably damaging	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pdgfra	T	C	5: 75,324,438 (GRCm39)	Y98H	probably damaging	Het
Plcz1	C	T	6: 139,936,459 (GRCm39)	R590H	probably damaging	Het
Pnliprp1	T	A	19: 58,726,628 (GRCm39)	Y328*	probably null	Het
Pnpla8	C	T	12: 44,330,246 (GRCm39)	P48L	probably benign	Het
Rab44	T	A	17: 29,366,317 (GRCm39)		probably null	Het
Ranbp2	T	C	10: 58,329,720 (GRCm39)	I3031T	probably damaging	Het
Sbno1	T	C	5: 124,522,604 (GRCm39)	D1072G	probably damaging	Het
Senp7	A	G	16: 55,944,236 (GRCm39)	T187A	possibly damaging	Het
Serpinh1	A	G	7: 98,998,601 (GRCm39)	C10R	unknown	Het
Sh2d4a	A	G	8: 68,799,346 (GRCm39)	Y405C	possibly damaging	Het
Slc26a7	T	C	4: 14,621,317 (GRCm39)	D23G	probably benign	Het
Slc7a7	A	G	14: 54,615,259 (GRCm39)	L246P	probably damaging	Het
Spire1	T	C	18: 67,661,945 (GRCm39)	R163G	probably damaging	Het
Stxbp2	T	A	8: 3,682,559 (GRCm39)	D49E	probably damaging	Het
Susd2	C	T	10: 75,474,069 (GRCm39)	A509T	probably benign	Het
Sycp2	A	G	2: 178,024,197 (GRCm39)	F396L	probably damaging	Het
Syne2	T	C	12: 76,010,587 (GRCm39)	L2499P	probably damaging	Het
Syt10	C	A	15: 89,711,144 (GRCm39)	A130S	probably benign	Het
Sytl4	A	T	X: 132,862,936 (GRCm39)	D16E	probably benign	Het
Tecpr1	T	C	5: 144,148,317 (GRCm39)	T363A	probably damaging	Het
Terb2	A	G	2: 122,016,816 (GRCm39)	D16G	probably benign	Het
Tm2d2	A	G	8: 25,510,552 (GRCm39)	E137G	probably benign	Het
Trim30d	T	A	7: 104,121,692 (GRCm39)	H201L	probably damaging	Het
Tspan3	A	G	9: 56,054,669 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,617,667 (GRCm39)	L16268Q	probably damaging	Het
Ttn	A	T	2: 76,626,529 (GRCm39)		probably null	Het
Ubap2	T	A	4: 41,218,319 (GRCm39)	T263S	probably benign	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Zeb2	A	T	2: 44,886,138 (GRCm39)	M973K	possibly damaging	Het
Zfp229	A	G	17: 21,965,615 (GRCm39)	E615G	probably damaging	Het
Zfp655	T	A	5: 145,180,867 (GRCm39)	S242T	possibly damaging	Het
Zfp788	T	A	7: 41,297,705 (GRCm39)	F62I	possibly damaging	Het
Zmynd8	A	G	2: 165,629,078 (GRCm39)		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
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
R8897:Tab2	UTSW	10	7,786,897 (GRCm39)	missense	probably damaging	1.00
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'- TAGTCCAAGGTCCAGGCTGTGAAG -3'
(R):5'- ACGGTGGGCAGTCCAATAACGAAC -3'

Sequencing Primer
(F):5'- CCAGGCTGTGAAGGTTGATAG -3'
(R):5'- GGCAGTCCAATAACGAACTGTTTC -3'

Posted On

2013-07-11