Mutagenetix > Incidental Mutation

Incidental Mutation 'R6483:Tada2b'

517200

Institutional Source

Beutler Lab

Gene Symbol

Tada2b

Ensembl Gene

ENSMUSG00000029196

Gene Name

transcriptional adaptor 2B

Synonyms

LOC231151

MMRRC Submission

044615-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R6483 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36631014-36641629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36634029 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 183 (T183M)

Ref Sequence

ENSEMBL: ENSMUSP00000031097 (fasta)

Gene Model

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

AlphaFold

D3Z4Z0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031097
AA Change: T183M

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196
AA Change: T183M

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: T108M

PolyPhen 2 Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000114124
Gene: ENSMUSG00000029196
AA Change: T108M

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

0.1664

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (46/46)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	T	G	14: 29,700,538 (GRCm39)	L39R	possibly damaging	Het
Amer3	T	C	1: 34,626,771 (GRCm39)	S337P	probably damaging	Het
Arhgef10l	A	T	4: 140,344,226 (GRCm39)	I12K	probably damaging	Het
Atp2b4	A	G	1: 133,657,618 (GRCm39)	V624A	possibly damaging	Het
BB014433	A	T	8: 15,092,208 (GRCm39)	L215Q	probably benign	Het
Bod1l	A	G	5: 41,978,425 (GRCm39)	V963A	probably benign	Het
Bpifa6	T	C	2: 153,832,354 (GRCm39)	L287S	probably benign	Het
Bsnd	A	T	4: 106,345,212 (GRCm39)	L78Q	probably damaging	Het
C1qtnf3	T	C	15: 10,958,156 (GRCm39)		probably null	Het
Ccdc180	T	G	4: 45,921,950 (GRCm39)	V1008G	probably benign	Het
Ccl1	T	G	11: 82,068,860 (GRCm39)	D59A	possibly damaging	Het
Cfap58	T	C	19: 47,971,891 (GRCm39)	I607T	probably benign	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Cntnap4	C	T	8: 113,484,105 (GRCm39)	P386L	possibly damaging	Het
Col1a1	G	A	11: 94,833,444 (GRCm39)		probably null	Het
Dnajc13	A	T	9: 104,085,003 (GRCm39)	D798E	probably damaging	Het
Eml6	T	G	11: 29,699,875 (GRCm39)	I1754L	probably benign	Het
Ercc8	T	A	13: 108,320,344 (GRCm39)	V310D	probably damaging	Het
Fat2	G	A	11: 55,187,171 (GRCm39)	T1225I	probably damaging	Het
Gba1	A	G	3: 89,115,910 (GRCm39)	Y510C	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm43302	T	A	5: 105,423,726 (GRCm39)	M416L	probably benign	Het
Grxcr2	A	T	18: 42,124,955 (GRCm39)	V151E	probably benign	Het
Gtf2ird2	A	G	5: 134,240,066 (GRCm39)	N296S	probably benign	Het
Herc1	T	A	9: 66,355,811 (GRCm39)	I2354N	possibly damaging	Het
Inhbc	G	A	10: 127,193,309 (GRCm39)	R236*	probably null	Het
Itpr2	T	C	6: 146,013,975 (GRCm39)	D2607G	possibly damaging	Het
Kcnh7	T	A	2: 62,676,118 (GRCm39)	D298V	probably benign	Het
Klrb1c	A	G	6: 128,761,148 (GRCm39)	S160P	probably benign	Het
Mrgpra2a	C	G	7: 47,076,437 (GRCm39)	E274Q	probably benign	Het
Muc5ac	T	A	7: 141,356,591 (GRCm39)	F1059L	probably benign	Het
Naglu	T	C	11: 100,962,007 (GRCm39)	I160T	probably damaging	Het
Nasp	A	T	4: 116,476,145 (GRCm39)	L47Q	probably damaging	Het
Opa1	C	T	16: 29,447,525 (GRCm39)	T873I	possibly damaging	Het
Or10a3n	C	T	7: 108,493,318 (GRCm39)	V99M	possibly damaging	Het
Or52x1	T	C	7: 104,853,500 (GRCm39)	T17A	probably benign	Het
Or8u10	C	A	2: 85,915,784 (GRCm39)	M112I	probably benign	Het
Pttg1	A	G	11: 43,315,671 (GRCm39)	F48L	probably damaging	Het
Rho	T	C	6: 115,909,218 (GRCm39)	F85L	possibly damaging	Het
Rnasel	T	C	1: 153,630,432 (GRCm39)	V316A	probably benign	Het
Slc36a3	A	G	11: 55,026,089 (GRCm39)	I243T	probably benign	Het
Tbc1d22a	A	G	15: 86,185,768 (GRCm39)	M286V	possibly damaging	Het
Trim69	G	T	2: 121,998,081 (GRCm39)	E18*	probably null	Het
Ttn	T	C	2: 76,772,394 (GRCm39)	T2503A	possibly damaging	Het
Uox	C	T	3: 146,330,332 (GRCm39)	R163*	probably null	Het
Zfp654	T	A	16: 64,612,310 (GRCm39)	N192I	possibly damaging	Het
Zfp809	G	A	9: 22,147,540 (GRCm39)	R58H	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
R3766: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
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'- ACATGAACTGGTAGAGTGGCC -3'
(R):5'- CATGGGAACTTGGGCAAAGC -3'

Sequencing Primer
(F):5'- CGTAGTTTGAGCCGCAGC -3'
(R):5'- GCCTGCATCCCTGACAC -3'

Posted On

2018-05-21