Mutagenetix > Incidental Mutation

Incidental Mutation 'R2520:Tab2'

254382

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

040424-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2520 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7781417-7831994 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 7783245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 679 (P679L)

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

noncoding transcript
Transcript: ENSMUST00000142007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143848

Predicted Effect

probably damaging
Transcript: ENSMUST00000146444
AA Change: P679L

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

SMART Domains

Protein: ENSMUSP00000121266
Gene: ENSMUSG00000015755
AA Change: P679L

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

Meta Mutation Damage Score

0.8467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	T	5: 3,625,773 (GRCm39)	N70I	probably damaging	Het
4930503B20Rik	G	A	3: 146,356,261 (GRCm39)	R216W	probably damaging	Het
Abcb9	C	T	5: 124,218,091 (GRCm39)		probably null	Het
Arhgdia	A	T	11: 120,470,852 (GRCm39)	V72E	probably damaging	Het
Arsb	A	T	13: 94,077,207 (GRCm39)	K525*	probably null	Het
Bckdha	A	C	7: 25,341,124 (GRCm39)	I79S	probably benign	Het
Carm1	G	A	9: 21,494,893 (GRCm39)		probably null	Het
Cers5	G	A	15: 99,634,262 (GRCm39)	T362I	probably damaging	Het
Clec4b2	T	A	6: 123,177,942 (GRCm39)	F86I	probably damaging	Het
Crispld1	G	A	1: 17,821,000 (GRCm39)	D347N	probably damaging	Het
Csf3r	A	T	4: 125,929,145 (GRCm39)	T352S	probably benign	Het
Daam2	G	A	17: 49,787,785 (GRCm39)	Q443*	probably null	Het
Dcbld1	A	G	10: 52,195,641 (GRCm39)	D283G	probably damaging	Het
Dpp9	T	C	17: 56,513,868 (GRCm39)	E82G	probably damaging	Het
Dync1li1	A	G	9: 114,518,074 (GRCm39)	D42G	probably null	Het
Eml6	T	C	11: 29,741,993 (GRCm39)	H1130R	probably damaging	Het
Enox1	A	T	14: 77,819,839 (GRCm39)	Y198F	probably damaging	Het
Epop	A	G	11: 97,519,554 (GRCm39)	L185P	probably benign	Het
Frem1	A	T	4: 82,868,527 (GRCm39)	C1485S	probably damaging	Het
Gbf1	T	A	19: 46,253,806 (GRCm39)	S571T	probably benign	Het
Gm5965	A	T	16: 88,575,414 (GRCm39)	I196F	probably null	Het
Gm8237	T	A	14: 5,863,642 (GRCm38)	I8L	possibly damaging	Het
Gria2	A	C	3: 80,614,269 (GRCm39)	N590K	probably damaging	Het
Hectd2	T	A	19: 36,589,633 (GRCm39)		probably null	Het
Hmcn1	T	A	1: 150,619,398 (GRCm39)	T1239S	possibly damaging	Het
Hps3	A	T	3: 20,083,194 (GRCm39)	D167E	probably damaging	Het
Htr1a	A	G	13: 105,581,881 (GRCm39)	S374G	probably benign	Het
Il16	C	T	7: 83,301,202 (GRCm39)	G307S	probably benign	Het
Ipmk	T	C	10: 71,217,047 (GRCm39)	F198S	probably damaging	Het
Lyz2	T	A	10: 117,114,558 (GRCm39)	I124F	probably damaging	Het
Maea	T	C	5: 33,515,854 (GRCm39)	V47A	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mrgpra1	A	T	7: 46,985,020 (GRCm39)	C220S	possibly damaging	Het
Myo5c	A	T	9: 75,204,931 (GRCm39)	K1595*	probably null	Het
Naga	G	T	15: 82,214,295 (GRCm39)	D405E	probably benign	Het
Nanog	T	A	6: 122,690,418 (GRCm39)	N249K	probably benign	Het
Nhlh1	G	T	1: 171,881,570 (GRCm39)	R99S	probably damaging	Het
Ntrk2	T	A	13: 59,202,090 (GRCm39)		probably null	Het
Nudt2	A	G	4: 41,480,354 (GRCm39)	E79G	probably benign	Het
Or2ad1	A	T	13: 21,326,746 (GRCm39)	C160*	probably null	Het
Or4f60	A	T	2: 111,902,013 (GRCm39)	M305K	probably benign	Het
Or52n2	T	A	7: 104,542,080 (GRCm39)	I252F	probably benign	Het
Pitpnm2	T	C	5: 124,267,464 (GRCm39)	D592G	probably damaging	Het
Prps1l3	T	C	12: 57,285,369 (GRCm39)	V53A	probably damaging	Het
Psmd2	T	G	16: 20,481,826 (GRCm39)	V853G	probably damaging	Het
Pycard	A	G	7: 127,592,677 (GRCm39)	I50T	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf168	T	A	16: 32,097,221 (GRCm39)	S99T	probably benign	Het
Rph3al	A	G	11: 75,797,373 (GRCm39)	S108P	possibly damaging	Het
Sdk1	G	A	5: 142,071,526 (GRCm39)	A979T	probably benign	Het
Sec16a	G	A	2: 26,331,368 (GRCm39)	Q216*	probably null	Het
Slc35f3	T	A	8: 127,121,312 (GRCm39)	V391E	possibly damaging	Het
Slf1	T	A	13: 77,199,384 (GRCm39)	I666F	probably damaging	Het
Slfn14	A	G	11: 83,167,013 (GRCm39)	V834A	probably damaging	Het
Tbc1d10b	A	G	7: 126,799,455 (GRCm39)		probably null	Het
Tmeff1	T	A	4: 48,604,679 (GRCm39)	C91S	probably damaging	Het
Tmem108	G	T	9: 103,366,481 (GRCm39)	N503K	possibly damaging	Het
Trbv28	A	G	6: 41,248,541 (GRCm39)	T24A	probably damaging	Het
Trim34b	A	G	7: 103,980,446 (GRCm39)	E178G	probably damaging	Het
Trmt1l	T	A	1: 151,329,696 (GRCm39)	H546Q	probably benign	Het
Ttc39d	A	G	17: 80,523,799 (GRCm39)	I153V	probably benign	Het
Ttll13	T	C	7: 79,899,964 (GRCm39)	V101A	probably damaging	Het
Ubash3b	A	T	9: 40,926,243 (GRCm39)	H501Q	probably damaging	Het
Upf3a	T	A	8: 13,846,443 (GRCm39)		probably null	Het
Usp48	A	G	4: 137,352,562 (GRCm39)	S94G	probably benign	Het
Wdr86	T	C	5: 24,917,573 (GRCm39)	*381W	probably null	Het
Wdr90	G	A	17: 26,074,326 (GRCm39)	P680S	probably damaging	Het
Zbtb22	G	A	17: 34,135,956 (GRCm39)	V34M	probably damaging	Het
Zbtb8a	A	G	4: 129,253,689 (GRCm39)		probably null	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp512b	A	G	2: 181,231,295 (GRCm39)	V295A	probably damaging	Het
Zfp608	A	T	18: 55,121,578 (GRCm39)	V3E	possibly damaging	Het
Zfp748	G	T	13: 67,694,781 (GRCm39)	D32E	possibly 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
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'- TCATTAGCTCTGTGGGCTGAC -3'
(R):5'- GAAGCATGGTCAGTTCAGCAG -3'

Sequencing Primer
(F):5'- TCTGTGGGCTGACACTCAACAC -3'
(R):5'- TACAGATCAAAGGTCCACCA -3'

Posted On

2014-12-04