Mutagenetix > Incidental Mutation

Incidental Mutation 'R3766:Tada2b'

274701

Institutional Source

Beutler Lab

Gene Symbol

Tada2b

Ensembl Gene

ENSMUSG00000029196

Gene Name

transcriptional adaptor 2B

Synonyms

LOC231151

MMRRC Submission

040743-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R3766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

36631014-36641629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36633761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 197 (D197E)

Ref Sequence

ENSEMBL: ENSMUSP00000114124 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031097] [ENSMUST00000031099] [ENSMUST00000119916]

AlphaFold

D3Z4Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000031097
AA Change: D272E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196
AA Change: D272E

Domain	Start	End	E-Value	Type
ZnF_ZZ	3	46	2.64e-5	SMART
SANT	66	116	1.75e-9	SMART
low complexity region	138	154	N/A	INTRINSIC
low complexity region	233	260	N/A	INTRINSIC
low complexity region	306	325	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000031099

SMART Domains

Protein: ENSMUSP00000031099
Gene: ENSMUSG00000029198

Domain	Start	End	E-Value	Type
low complexity region	7	21	N/A	INTRINSIC
Pfam:GrpE	32	215	5.3e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119916
AA Change: D197E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000114124
Gene: ENSMUSG00000029196
AA Change: D197E

Domain	Start	End	E-Value	Type
Blast:SANT	16	41	2e-10	BLAST
low complexity region	63	79	N/A	INTRINSIC
low complexity region	158	185	N/A	INTRINSIC
low complexity region	231	250	N/A	INTRINSIC

Meta Mutation Damage Score

0.1195

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (41/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TADA2B functions as a transcriptional adaptor protein that potentiates transcription through coordination of histone acetyltransferase (HAT) activity and by linking activation factors to basal transcriptional machinery (Barlev et al., 2003 [PubMed 12972612]).[supplied by OMIM, Apr 2010]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	C	T	5: 125,583,326 (GRCm39)	T294M	probably damaging	Het
Brf2	G	T	8: 27,614,496 (GRCm39)	T230N	possibly damaging	Het
Ccne2	A	G	4: 11,199,293 (GRCm39)		probably benign	Het
Crbn	T	C	6: 106,771,987 (GRCm39)	K106E	possibly damaging	Het
Cttnbp2nl	G	A	3: 104,912,117 (GRCm39)	T589I	probably benign	Het
Dock10	A	G	1: 80,514,643 (GRCm39)	S1091P	probably damaging	Het
Fh1	A	G	1: 175,442,316 (GRCm39)	V178A	probably damaging	Het
Fndc1	A	G	17: 8,003,253 (GRCm39)	S111P	probably damaging	Het
Frk	A	G	10: 34,360,001 (GRCm39)	M1V	probably null	Het
Gm29394	C	T	15: 57,912,024 (GRCm39)		probably benign	Het
Herc2	A	G	7: 55,813,572 (GRCm39)	D2601G	probably damaging	Het
Hspa13	T	C	16: 75,561,974 (GRCm39)	D75G	probably benign	Het
Itgav	T	C	2: 83,632,229 (GRCm39)		probably null	Het
Kif6	A	T	17: 50,065,671 (GRCm39)		probably benign	Het
Lypla1	G	A	1: 4,911,201 (GRCm39)	R104Q	probably benign	Het
Map1b	T	C	13: 99,570,595 (GRCm39)	K709E	unknown	Het
Or52l1	A	T	7: 104,830,088 (GRCm39)	I159K	probably damaging	Het
Or56b1b	G	A	7: 108,164,402 (GRCm39)	P200L	probably benign	Het
Pcdhb16	A	T	18: 37,611,249 (GRCm39)	K70*	probably null	Het
Pex5l	T	G	3: 33,061,327 (GRCm39)	D174A	probably benign	Het
Plac8l1	A	T	18: 42,313,460 (GRCm39)	M94K	probably benign	Het
Plxna1	T	C	6: 89,311,757 (GRCm39)		probably benign	Het
Psg26	T	C	7: 18,208,996 (GRCm39)	T471A	probably benign	Het
Pus3	C	A	9: 35,477,968 (GRCm39)	T400K	probably benign	Het
Pxk	T	C	14: 8,136,863 (GRCm38)		probably benign	Het
Rapgef2	T	C	3: 78,996,057 (GRCm39)	T569A	probably benign	Het
Sall4	T	C	2: 168,597,964 (GRCm39)	Q292R	possibly damaging	Het
Slc18b1	A	G	10: 23,674,647 (GRCm39)	D34G	probably damaging	Het
Slc45a1	T	C	4: 150,722,517 (GRCm39)	R456G	probably damaging	Het
Sox13	T	C	1: 133,318,536 (GRCm39)	R81G	possibly damaging	Het
Spag9	A	G	11: 93,951,109 (GRCm39)		probably benign	Het
Ston1	C	T	17: 88,942,788 (GRCm39)	P65S	probably damaging	Het
Tcim	T	A	8: 24,928,765 (GRCm39)	R50W	probably damaging	Het
Tnpo3	T	C	6: 29,579,688 (GRCm39)	D235G	probably benign	Het
Trim59	A	G	3: 68,944,137 (GRCm39)	V401A	probably benign	Het
Trpm3	A	C	19: 22,425,741 (GRCm39)	Q32P	probably benign	Het
Tubgcp5	T	A	7: 55,480,614 (GRCm39)	M1018K	probably damaging	Het
Ube2o	A	G	11: 116,437,689 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Uvrag	G	T	7: 98,537,350 (GRCm39)	S615*	probably null	Het
Vmn2r6	T	A	3: 64,463,929 (GRCm39)	I302L	probably benign	Het
Vmn2r73	C	T	7: 85,521,198 (GRCm39)	V257I	probably benign	Het

Other mutations in Tada2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Tada2b	APN	5	36,633,417 (GRCm39)	missense	probably damaging	0.99
IGL01453:Tada2b	APN	5	36,633,686 (GRCm39)	missense	probably damaging	1.00
R1654:Tada2b	UTSW	5	36,641,139 (GRCm39)	missense	probably damaging	1.00
R2019:Tada2b	UTSW	5	36,641,250 (GRCm39)	missense	probably damaging	1.00
R2337:Tada2b	UTSW	5	36,634,258 (GRCm39)	missense	probably benign	0.17
R3765:Tada2b	UTSW	5	36,633,761 (GRCm39)	missense	probably benign
R5099:Tada2b	UTSW	5	36,633,744 (GRCm39)	missense	probably benign	0.12
R6154:Tada2b	UTSW	5	36,634,008 (GRCm39)	missense	probably damaging	0.98
R6285:Tada2b	UTSW	5	36,634,186 (GRCm39)	missense	probably damaging	1.00
R6483:Tada2b	UTSW	5	36,634,029 (GRCm39)	missense	possibly damaging	0.74
R7265:Tada2b	UTSW	5	36,633,952 (GRCm39)	missense	probably damaging	1.00
R7318:Tada2b	UTSW	5	36,641,331 (GRCm39)	missense	probably benign
R7346:Tada2b	UTSW	5	36,634,180 (GRCm39)	missense	possibly damaging	0.70
R7523:Tada2b	UTSW	5	36,634,111 (GRCm39)	missense	probably benign	0.00
R7587:Tada2b	UTSW	5	36,634,111 (GRCm39)	missense	probably benign	0.00
R8856:Tada2b	UTSW	5	36,641,166 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATGGCTGCAAACTCGCTGTC -3'
(R):5'- TGTAGACATGTATGTGCGGAAG -3'

Sequencing Primer
(F):5'- GCAAACTCGCTGTCTTTGC -3'
(R):5'- GCTGAAGGAGAGGCAGC -3'

Posted On

2015-04-02