Mutagenetix > Incidental Mutation

Incidental Mutation 'R7792:Tab2'

599957

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

045848-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7792 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7781417-7831994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7794897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 528 (D528E)

Ref Sequence

ENSEMBL: ENSMUSP00000121266 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000130322] [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 benign
Transcript: ENSMUST00000130322

SMART Domains

Protein: ENSMUSP00000122559
Gene: ENSMUSG00000015755

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000146444
AA Change: D528E

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000121266
Gene: ENSMUSG00000015755
AA Change: D528E

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

possibly damaging
Transcript: ENSMUST00000147938
AA Change: D528E

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119515
Gene: ENSMUSG00000015755
AA Change: D528E

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

100% (97/97)

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: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	G	T	8: 111,769,896 (GRCm39)	V332F	possibly damaging	Het
Abhd15	T	A	11: 77,409,560 (GRCm39)	S425T	probably benign	Het
Acads	A	T	5: 115,250,840 (GRCm39)	F152L	probably damaging	Het
Acp3	T	A	9: 104,204,165 (GRCm39)	H43L	probably damaging	Het
Adora2a	A	G	10: 75,169,480 (GRCm39)	S315G	probably benign	Het
Agxt2	A	T	15: 10,381,472 (GRCm39)	D242V	probably damaging	Het
Alx4	A	G	2: 93,473,056 (GRCm39)	D18G	probably damaging	Het
Ankrd11	A	G	8: 123,610,970 (GRCm39)	S2639P	probably damaging	Het
Arhgap35	A	T	7: 16,295,453 (GRCm39)	V1204D	possibly damaging	Het
Arid2	A	G	15: 96,267,256 (GRCm39)	T579A	probably benign	Het
B4galt1	C	T	4: 40,809,373 (GRCm39)	G332S	probably benign	Het
B4galt4	C	A	16: 38,578,172 (GRCm39)	Y206*	probably null	Het
Bcl2l14	A	T	6: 134,409,277 (GRCm39)	T284S	possibly damaging	Het
Bop1	C	T	15: 76,338,548 (GRCm39)	V465M	probably damaging	Het
Cacna1b	A	T	2: 24,567,977 (GRCm39)	L1037H	probably damaging	Het
Cadm2	G	A	16: 66,568,523 (GRCm39)	T254M	probably benign	Het
Ccdc180	T	C	4: 45,890,389 (GRCm39)		probably null	Het
Ccdc7a	A	T	8: 129,618,918 (GRCm39)	D875E	possibly damaging	Het
Cenpu	A	G	8: 47,015,502 (GRCm39)	D139G	possibly damaging	Het
Cep57l1	A	T	10: 41,598,936 (GRCm39)	C292*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chst14	A	G	2: 118,758,256 (GRCm39)	H350R	probably benign	Het
Clca3a1	T	A	3: 144,455,492 (GRCm39)	I434F	possibly damaging	Het
Crispld2	A	G	8: 120,757,809 (GRCm39)	T385A	probably benign	Het
Crmp1	A	C	5: 37,441,439 (GRCm39)	N507T	probably damaging	Het
Cyp4f40	T	A	17: 32,890,143 (GRCm39)	I271N	probably damaging	Het
D630003M21Rik	G	T	2: 158,052,082 (GRCm39)	Q670K	possibly damaging	Het
Ddx42	T	C	11: 106,127,822 (GRCm39)	I342T	probably damaging	Het
Dnah9	T	A	11: 65,740,839 (GRCm39)	I4116F	probably damaging	Het
Ehd2	T	C	7: 15,684,683 (GRCm39)	H372R	probably benign	Het
Gja8	C	A	3: 96,827,092 (GRCm39)	C190F	probably damaging	Het
Gm8297	A	T	14: 16,165,939 (GRCm39)	D72V	possibly damaging	Het
Golgb1	A	G	16: 36,739,092 (GRCm39)	D2518G	probably benign	Het
Hsd17b12	C	A	2: 93,863,986 (GRCm39)	M285I	probably benign	Het
Hus1	T	C	11: 8,950,133 (GRCm39)	E196G	probably damaging	Het
Ift70a2	T	C	2: 75,807,273 (GRCm39)	N413S	probably benign	Het
Irf2	G	A	8: 47,260,314 (GRCm39)	R82Q	probably damaging	Het
Irx2	A	G	13: 72,779,493 (GRCm39)	D259G	possibly damaging	Het
Jph1	T	A	1: 17,074,602 (GRCm39)	Q472L	probably benign	Het
Kif2a	T	C	13: 107,124,490 (GRCm39)	Q142R	probably benign	Het
Lonp1	T	C	17: 56,929,515 (GRCm39)	Y174C	probably damaging	Het
Mapk14	T	C	17: 28,965,271 (GRCm39)	F348L	probably damaging	Het
Marchf10	G	T	11: 105,281,054 (GRCm39)	D410E	probably benign	Het
Mff	A	T	1: 82,724,802 (GRCm39)		probably null	Het
Mtrex	A	T	13: 113,009,443 (GRCm39)	D985E	probably benign	Het
Necab3	G	A	2: 154,388,200 (GRCm39)	R271C	probably damaging	Het
Nlrp4e	T	A	7: 23,021,182 (GRCm39)	F556L	possibly damaging	Het
Nt5c2	T	C	19: 46,878,385 (GRCm39)	K425E	probably benign	Het
Ofcc1	A	T	13: 40,296,302 (GRCm39)	W511R	probably damaging	Het
Or1j18	A	C	2: 36,624,342 (GRCm39)	E3A	probably benign	Het
Or2v1	T	A	11: 49,025,496 (GRCm39)	I159N	possibly damaging	Het
Or4k77	T	C	2: 111,199,748 (GRCm39)	I257T	probably benign	Het
Or52p2	T	A	7: 102,238,090 (GRCm39)		probably benign	Het
P2rx2	G	C	5: 110,488,210 (GRCm39)	A448G	possibly damaging	Het
Pcnx2	A	T	8: 126,618,757 (GRCm39)	N56K	possibly damaging	Het
Pdzd7	A	C	19: 45,028,657 (GRCm39)	M162R	possibly damaging	Het
Phyhd1	A	G	2: 30,156,782 (GRCm39)	M1V	probably null	Het
Plaat3	T	C	19: 7,556,660 (GRCm39)	C154R	probably benign	Het
Plekha5	A	G	6: 140,534,950 (GRCm39)	E1126G	possibly damaging	Het
Plekhm1	A	T	11: 103,287,886 (GRCm39)	V87D	probably damaging	Het
Pole	G	A	5: 110,445,332 (GRCm39)		probably null	Het
Pramel22	A	G	4: 143,381,123 (GRCm39)	L300P	probably benign	Het
R3hcc1	T	C	14: 69,942,957 (GRCm39)	M207V	probably benign	Het
R3hcc1l	T	A	19: 42,552,403 (GRCm39)	S467T	probably damaging	Het
Rasgrp4	G	T	7: 28,842,527 (GRCm39)	R267L	probably damaging	Het
Rbm20	T	C	19: 53,838,567 (GRCm39)	I848T	probably benign	Het
Rims2	T	C	15: 39,061,923 (GRCm39)	S56P	possibly damaging	Het
Rmc1	G	A	18: 12,314,656 (GRCm39)	D289N	probably damaging	Het
Sacs	T	A	14: 61,447,222 (GRCm39)	D3089E	probably benign	Het
Sall2	C	T	14: 52,553,521 (GRCm39)	G16R	probably damaging	Het
Scgb1b19	G	A	7: 32,987,912 (GRCm39)	C93Y	probably damaging	Het
Scn3a	T	A	2: 65,297,334 (GRCm39)	K1442*	probably null	Het
Sepsecs	A	G	5: 52,801,391 (GRCm39)	S424P	probably damaging	Het
Set	G	T	2: 29,960,323 (GRCm39)	V219F	probably benign	Het
Sh3tc1	A	T	5: 35,868,295 (GRCm39)	F390I	probably damaging	Het
Simc1	G	A	13: 54,695,143 (GRCm39)	V1269M	probably damaging	Het
Ska3	T	G	14: 58,047,512 (GRCm39)	D341A	probably damaging	Het
Slc16a10	A	T	10: 39,913,411 (GRCm39)		probably null	Het
Srgap1	T	A	10: 121,761,872 (GRCm39)	N92I	probably damaging	Het
Sspo	T	C	6: 48,431,624 (GRCm39)	V639A	probably damaging	Het
Stk11	A	T	10: 79,961,271 (GRCm39)		probably benign	Het
Sult5a1	G	A	8: 123,872,180 (GRCm39)	H221Y	probably benign	Het
Sytl3	T	A	17: 7,003,977 (GRCm39)	M559K	probably benign	Het
Tbc1d15	A	G	10: 115,057,492 (GRCm39)	I218T	possibly damaging	Het
Tenm4	T	A	7: 96,423,221 (GRCm39)	M672K	possibly damaging	Het
Tent4b	A	T	8: 88,979,182 (GRCm39)	Q561L	probably benign	Het
Tfrc	A	G	16: 32,437,985 (GRCm39)	K346R	probably benign	Het
Thsd1	G	T	8: 22,733,114 (GRCm39)	G54W	probably damaging	Het
Tmprss15	A	T	16: 78,800,275 (GRCm39)	L618I	probably damaging	Het
Top3a	T	C	11: 60,633,790 (GRCm39)	S769G	probably benign	Het
Trp63	C	A	16: 25,686,974 (GRCm39)	P396Q	possibly damaging	Het
Uggt1	T	C	1: 36,247,065 (GRCm39)	S311G	probably damaging	Het
Usp10	G	A	8: 120,678,740 (GRCm39)	E574K	possibly damaging	Het
Wfdc6b	T	A	2: 164,459,822 (GRCm39)	I148K	probably damaging	Het
Zcchc2	T	G	1: 105,945,982 (GRCm39)	I474R	probably damaging	Het
Zdhhc2	A	G	8: 40,900,182 (GRCm39)	K82R	probably benign	Het
Zfp273	A	G	13: 67,974,135 (GRCm39)	D421G	possibly damaging	Het
Zfp280d	T	C	9: 72,238,601 (GRCm39)	I639T	probably damaging	Het
Zfp429	A	T	13: 67,538,558 (GRCm39)	C295*	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
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'- CCAGGGATATAGCCAAGTGG -3'
(R):5'- TGGTGGTCACTCAACCCAAC -3'

Sequencing Primer
(F):5'- CCAAGTGGAAGAATACTTAGTGTAGC -3'
(R):5'- TTACAGTTTCCCCCAATAAGCC -3'

Posted On

2019-11-26