Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00530:Tada2b'

6442

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tada2b

Ensembl Gene

ENSMUSG00000029196

Gene Name

transcriptional adaptor 2B

Synonyms

LOC231151

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

IGL00530

Quality Score

Status

Chromosome

Chromosomal Location

36631014-36641629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36633417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 312 (I312N)

Ref Sequence

ENSEMBL: ENSMUSP00000114124 (fasta)

Gene Model

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

AlphaFold

D3Z4Z0

Predicted Effect

probably damaging
Transcript: ENSMUST00000031097
AA Change: I387N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196
AA Change: I387N

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 damaging
Transcript: ENSMUST00000119916
AA Change: I312N

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114124
Gene: ENSMUSG00000029196
AA Change: I312N

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

Coding Region Coverage

Validation Efficiency

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: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Champ1	C	T	8: 13,929,522 (GRCm39)	S560L	possibly damaging	Het
Hecw2	C	T	1: 53,892,439 (GRCm39)	R1186H	probably damaging	Het
Hivep1	T	C	13: 42,308,125 (GRCm39)	S122P	probably benign	Het
Pcdhb15	T	C	18: 37,608,207 (GRCm39)	S480P	probably damaging	Het
Prdm2	G	T	4: 142,860,329 (GRCm39)	P987H	probably damaging	Het
Utp20	T	C	10: 88,661,306 (GRCm39)	I34V	possibly damaging	Het
Zfp616	A	T	11: 73,974,439 (GRCm39)	D236V	probably damaging	Het
Zhx3	T	A	2: 160,622,761 (GRCm39)	N469Y	probably damaging	Het

Other mutations in Tada2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20