Mutagenetix > Incidental Mutation

Incidental Mutation 'R7523:Tada2b'

582781

Institutional Source

Beutler Lab

Gene Symbol

Tada2b

Ensembl Gene

ENSMUSG00000029196

Gene Name

transcriptional adaptor 2B

Synonyms

LOC231151

MMRRC Submission

045595-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R7523 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36631014-36641629 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36634111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 156 (I156V)

Ref Sequence

ENSEMBL: ENSMUSP00000031097 (fasta)

Gene Model

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

AlphaFold

D3Z4Z0

Predicted Effect

probably benign
Transcript: ENSMUST00000031097
AA Change: I156V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000031097
Gene: ENSMUSG00000029196
AA Change: I156V

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: I81V

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000114124
Gene: ENSMUSG00000029196
AA Change: I81V

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

0.0718

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,492,824 (GRCm39)	H40Q	unknown	Het
4932414N04Rik	A	T	2: 68,569,673 (GRCm39)	Q463L	probably benign	Het
Ano4	C	A	10: 88,807,257 (GRCm39)	E775*	probably null	Het
Atp12a	T	C	14: 56,603,425 (GRCm39)	V10A	possibly damaging	Het
Camkmt	A	G	17: 85,699,056 (GRCm39)	I144M	probably benign	Het
Ciao2b	G	A	8: 105,368,404 (GRCm39)		probably benign	Het
Cyth1	TGGGCAA	T	11: 118,074,749 (GRCm39)		probably null	Het
Dazl	G	A	17: 50,594,569 (GRCm39)	T162I	probably damaging	Het
Dnah10	A	G	5: 124,824,803 (GRCm39)	K653R	probably damaging	Het
Exosc10	A	T	4: 148,648,299 (GRCm39)		probably null	Het
Fbn2	T	C	18: 58,199,152 (GRCm39)	D1372G	probably benign	Het
Fxr1	T	C	3: 34,093,692 (GRCm39)	V23A	probably benign	Het
Gmps	T	C	3: 63,919,087 (GRCm39)	I557T	possibly damaging	Het
Ifnab	A	T	4: 88,609,029 (GRCm39)	Y146N	probably damaging	Het
Krt78	T	C	15: 101,855,036 (GRCm39)	Y925C	not run	Het
Lrp1b	C	T	2: 41,401,473 (GRCm39)	V394M		Het
Ltbp2	T	C	12: 84,837,808 (GRCm39)	T1211A	probably benign	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mdn1	A	T	4: 32,667,270 (GRCm39)		probably null	Het
Myo15b	A	T	11: 115,781,684 (GRCm39)	I2798F	unknown	Het
Nat3	T	C	8: 68,000,226 (GRCm39)	I35T	probably damaging	Het
Nectin2	A	G	7: 19,464,037 (GRCm39)	V314A	probably benign	Het
Nexn	T	C	3: 151,952,815 (GRCm39)	R316G	probably benign	Het
Nfx1	A	G	4: 41,016,119 (GRCm39)	I894V	probably benign	Het
Or2c1	T	C	16: 3,657,563 (GRCm39)	V242A	probably benign	Het
Or8j3	T	C	2: 86,028,389 (GRCm39)	K236E	probably damaging	Het
Pdcd4	G	T	19: 53,899,379 (GRCm39)	V123F	probably damaging	Het
Pik3c3	C	T	18: 30,426,708 (GRCm39)	R275W	probably damaging	Het
Ppt2	A	G	17: 34,845,777 (GRCm39)		probably null	Het
Prss35	T	A	9: 86,637,427 (GRCm39)	C66S	probably damaging	Het
Ptbp3	A	G	4: 59,546,159 (GRCm39)	V11A	probably benign	Het
Ptpn22	A	G	3: 103,819,331 (GRCm39)	N795S	probably damaging	Het
Ptprg	T	G	14: 12,237,130 (GRCm38)	I1383S	probably damaging	Het
Rtel1	G	A	2: 180,964,108 (GRCm39)	V36M	probably damaging	Het
Sf3b3	A	G	8: 111,540,352 (GRCm39)	I1023T	probably benign	Het
Slc44a2	A	G	9: 21,257,288 (GRCm39)	E411G	probably null	Het
Stard9	T	C	2: 120,530,078 (GRCm39)	Y2112H	probably benign	Het
Tenm2	A	T	11: 35,969,408 (GRCm39)		probably null	Het
Tle1	A	T	4: 72,063,655 (GRCm39)	S199R	possibly damaging	Het
Tubgcp2	A	G	7: 139,586,783 (GRCm39)	I399T	probably benign	Het
Ubr5	T	C	15: 38,004,299 (GRCm39)	N1344S		Het
Vmn2r114	A	G	17: 23,529,611 (GRCm39)	F164L	probably benign	Het
Vps13a	G	T	19: 16,681,153 (GRCm39)	T1041K	probably benign	Het
Zbtb20	T	C	16: 43,430,875 (GRCm39)	V389A	probably benign	Het
Zfp811	A	T	17: 33,016,726 (GRCm39)	I438N	probably benign	Het
Zfp90	A	G	8: 107,150,545 (GRCm39)	D86G	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
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
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'- GCACCAGGTTATAGTCTCTGG -3'
(R):5'- ATGTTGGTGCTTCACGGACTC -3'

Sequencing Primer
(F):5'- CACCAGGTTATAGTCTCTGGCAATG -3'
(R):5'- ACTCCCCAGGAAGTGATGG -3'

Posted On

2019-10-17