Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Tab2'

685847

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

068844-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7781417-7831994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7794920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 521 (R521W)

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

probably damaging
Transcript: ENSMUST00000146444
AA Change: R521W

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

SMART Domains

Protein: ENSMUSP00000121266
Gene: ENSMUSG00000015755
AA Change: R521W

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 damaging
Transcript: ENSMUST00000147938
AA Change: R521W

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

SMART Domains

Protein: ENSMUSP00000119515
Gene: ENSMUSG00000015755
AA Change: R521W

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: 99.6%
20x: 98.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,798,857 (GRCm39)	N746S	probably benign	Het
Ahnak2	T	C	12: 112,740,170 (GRCm39)	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,186,403 (GRCm39)	N1272K	possibly damaging	Het
Apc	G	T	18: 34,354,074 (GRCm39)		probably benign	Het
Arap1	A	G	7: 101,053,540 (GRCm39)	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,019,607 (GRCm39)	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,006,796 (GRCm39)	Q138K	probably damaging	Het
Bahcc1	C	T	11: 120,163,715 (GRCm39)	A671V	probably benign	Het
Bahcc1	T	C	11: 120,173,048 (GRCm39)	S1557P	probably benign	Het
Bltp2	T	C	11: 78,160,488 (GRCm39)	L649P	possibly damaging	Het
Brca2	C	A	5: 150,465,219 (GRCm39)	T1661K	probably benign	Het
Casq1	T	A	1: 172,038,064 (GRCm39)	S356C	probably damaging	Het
Catsperg1	T	C	7: 28,906,066 (GRCm39)	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,879,323 (GRCm39)	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,372,289 (GRCm39)	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,936,158 (GRCm39)	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,442,731 (GRCm39)	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,675,844 (GRCm39)		probably null	Het
Dcaf8	T	C	1: 172,007,530 (GRCm39)	V333A	possibly damaging	Het
Dennd4c	G	A	4: 86,739,702 (GRCm39)	S997N	probably benign	Het
Dennd4c	A	C	4: 86,754,666 (GRCm39)	I1559L	probably benign	Het
Dgcr8	T	G	16: 18,077,514 (GRCm39)	H632P	possibly damaging	Het
Dhx16	C	A	17: 36,193,490 (GRCm39)	R278S	probably benign	Het
Dsel	A	T	1: 111,788,509 (GRCm39)	Y675*	probably null	Het
Dsp	T	C	13: 38,376,700 (GRCm39)	I1495T	possibly damaging	Het
Fam227a	T	A	15: 79,504,958 (GRCm39)	N495I	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,876 (GRCm39)	E1834G	probably damaging	Het
Focad	T	A	4: 88,275,763 (GRCm39)	M1124K	unknown	Het
Foxi3	A	G	6: 70,937,815 (GRCm39)	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Fsip2	C	A	2: 82,806,898 (GRCm39)	D1072E	probably benign	Het
Fsip2	T	G	2: 82,817,075 (GRCm39)	H4269Q	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gm49383	A	C	12: 69,243,425 (GRCm39)	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,752,033 (GRCm39)	S104C	probably damaging	Het
Kat6a	A	G	8: 23,430,087 (GRCm39)	N1814S	unknown	Het
Kif18a	T	A	2: 109,123,414 (GRCm39)	H229Q	probably damaging	Het
Klk1b4	C	T	7: 43,859,098 (GRCm39)	R39C	probably benign	Het
Lgr6	T	C	1: 134,931,248 (GRCm39)	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,294,219 (GRCm39)	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,632 (GRCm39)	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,928,670 (GRCm39)	M1T	probably null	Het
Ms4a14	T	C	19: 11,278,871 (GRCm39)	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,329,118 (GRCm39)	D2179N	probably damaging	Het
Nfix	G	A	8: 85,448,405 (GRCm39)	T366M	possibly damaging	Het
Or12j4	A	T	7: 140,045,883 (GRCm39)		probably benign	Het
Or56b1b	A	G	7: 108,164,882 (GRCm39)	L40P	possibly damaging	Het
Or8b49	T	C	9: 38,506,123 (GRCm39)	V202A	probably damaging	Het
Or8h9	T	A	2: 86,789,035 (GRCm39)	I256F	probably benign	Het
Pear1	T	C	3: 87,658,479 (GRCm39)	Q964R	probably benign	Het
Pgk2	T	G	17: 40,518,687 (GRCm39)	E247A	probably benign	Het
Ppfia2	C	T	10: 106,763,666 (GRCm39)	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,241,449 (GRCm39)	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,009,510 (GRCm39)	H167Q	probably damaging	Het
Scel	A	T	14: 103,822,575 (GRCm39)	R396S	probably benign	Het
Siae	T	C	9: 37,557,639 (GRCm39)	V482A	possibly damaging	Het
Skint2	A	G	4: 112,483,026 (GRCm39)	M144V	probably benign	Het
Slc23a3	A	G	1: 75,109,274 (GRCm39)	F219L	probably benign	Het
Slc4a4	G	T	5: 89,280,245 (GRCm39)	A348S	probably damaging	Het
Spin1	G	T	13: 51,282,010 (GRCm39)		probably null	Het
Tas2r118	G	A	6: 23,970,049 (GRCm39)	T4M	probably benign	Het
Tet2	T	A	3: 133,172,949 (GRCm39)	D1771V	probably damaging	Het
Tmprss15	T	C	16: 78,872,691 (GRCm39)	T172A	probably benign	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Txnrd3	A	G	6: 89,631,091 (GRCm39)	Y129C	probably damaging	Het
Ulk4	A	G	9: 121,017,294 (GRCm39)	I728T	probably benign	Het
Vmn1r44	G	A	6: 89,870,997 (GRCm39)	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,526,395 (GRCm39)	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,785,544 (GRCm39)	T423A	probably benign	Het
Zfp619	T	C	7: 39,187,246 (GRCm39)	I1092T	probably benign	Het
Zfp729b	A	T	13: 67,740,274 (GRCm39)	Y664N	probably damaging	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
R8897:Tab2	UTSW	10	7,786,897 (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'- AGTGTAGCAAGGCCAGTACTG -3'
(R):5'- TGGTAACTCTGCAACGTCTC -3'

Sequencing Primer
(F):5'- TGTAGCAAGGCCAGTACTGAAAAAC -3'
(R):5'- GTGGTGGTCACTCAACCCAAC -3'

Posted On

2021-10-11