Mutagenetix > Incidental Mutation

Incidental Mutation 'R2146:Tada2a'

233851

Institutional Source

Beutler Lab

Gene Symbol

Tada2a

Ensembl Gene

ENSMUSG00000018651

Gene Name

transcriptional adaptor 2A

Synonyms

D030022J10Rik, Tada2l

MMRRC Submission

040149-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

R2146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83969746-84020426 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 83970455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 432 (D432G)

Ref Sequence

ENSEMBL: ENSMUSP00000018795 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018795] [ENSMUST00000141852]

AlphaFold

Q8CHV6

PDB Structure

Structural and functional analysis of ada2 alpha swirm domain [SOLUTION NMR]
Structural and functional analysis of ADA2 alpha swirm domain [SOLUTION NMR]
Solution structure of SWIRM domain of mouse transcriptional adaptor 2-like [SOLUTION NMR]

Predicted Effect

probably damaging
Transcript: ENSMUST00000018795
AA Change: D432G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000018795
Gene: ENSMUSG00000018651
AA Change: D432G

Domain	Start	End	E-Value	Type
Blast:ZnF_ZZ	11	57	2e-25	BLAST
SANT	71	120	3.1e-10	SMART
low complexity region	134	143	N/A	INTRINSIC
Pfam:SWIRM	364	441	5.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125566

Predicted Effect

probably benign
Transcript: ENSMUST00000141852

SMART Domains

Protein: ENSMUSP00000119022
Gene: ENSMUSG00000018651

Domain	Start	End	E-Value	Type
Pfam:SWIRM	168	235	2.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156151

Meta Mutation Damage Score

0.6381

Coding Region Coverage

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

Validation Efficiency

99% (84/85)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,324,803 (GRCm39)		probably null	Het
9530002B09Rik	T	A	4: 122,583,198 (GRCm39)	C13*	probably null	Het
Abca12	C	A	1: 71,302,647 (GRCm39)	V2191L	probably benign	Het
Adamts18	G	C	8: 114,571,635 (GRCm39)	A116G	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,397,036 (GRCm39)		probably null	Het
Arfgef1	C	T	1: 10,270,103 (GRCm39)	A349T	probably benign	Het
Arhgap6	A	G	X: 167,579,496 (GRCm39)	T94A	probably benign	Het
Arhgef5	T	C	6: 43,260,252 (GRCm39)	S1413P	probably damaging	Het
Atg4c	C	A	4: 99,109,463 (GRCm39)	N143K	possibly damaging	Het
C1qtnf12	A	G	4: 156,050,922 (GRCm39)	N297S	probably benign	Het
Cadps2	G	T	6: 23,838,998 (GRCm39)		probably benign	Het
Ccdc185	G	T	1: 182,575,085 (GRCm39)	H535N	possibly damaging	Het
Ccdc57	A	G	11: 120,776,051 (GRCm39)		probably benign	Het
Cd163	A	G	6: 124,286,167 (GRCm39)	H239R	probably damaging	Het
Ceacam2	G	T	7: 25,227,368 (GRCm39)	C166*	probably null	Het
Ces5a	T	A	8: 94,261,327 (GRCm39)	E33D	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chsy3	G	A	18: 59,309,544 (GRCm39)	V266I	probably benign	Het
Cpa5	G	T	6: 30,626,821 (GRCm39)	R251L	probably damaging	Het
Cps1	A	C	1: 67,191,538 (GRCm39)		probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Cstf1	T	C	2: 172,217,683 (GRCm39)	Y99H	probably damaging	Het
Cyp2j11	G	A	4: 96,204,595 (GRCm39)	T317I	probably damaging	Het
Dcaf8l	T	C	X: 88,449,883 (GRCm39)	D82G	possibly damaging	Het
Dennd3	C	T	15: 73,395,345 (GRCm39)	T146M	probably damaging	Het
Dennd3	A	T	15: 73,426,909 (GRCm39)	H762L	probably benign	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dnajc22	T	C	15: 99,002,264 (GRCm39)	V303A	probably benign	Het
Dtx2	T	G	5: 136,059,464 (GRCm39)	L458R	probably benign	Het
Fat3	A	T	9: 15,901,808 (GRCm39)	F3072L	probably benign	Het
Fgf5	T	C	5: 98,423,409 (GRCm39)	*265R	probably null	Het
Fndc11	A	G	2: 180,863,918 (GRCm39)	E241G	probably damaging	Het
Glb1	T	C	9: 114,279,716 (GRCm39)	Y375H	probably damaging	Het
Gm4922	T	G	10: 18,659,264 (GRCm39)	Q486P	probably benign	Het
Gm5786	A	T	12: 59,128,084 (GRCm39)		noncoding transcript	Het
Hepacam2	A	T	6: 3,463,378 (GRCm39)		probably benign	Het
Ints9	G	A	14: 65,223,792 (GRCm39)	G89R	possibly damaging	Het
Iqcm	T	A	8: 76,615,241 (GRCm39)	W441R	probably damaging	Het
Itga10	T	C	3: 96,558,808 (GRCm39)	L382P	possibly damaging	Het
Itga10	G	T	3: 96,561,039 (GRCm39)	G635W	probably damaging	Het
Kbtbd2	A	G	6: 56,756,075 (GRCm39)	Y554H	probably damaging	Het
Kif1b	T	C	4: 149,268,766 (GRCm39)	K1649R	probably damaging	Het
L1cam	A	T	X: 72,904,747 (GRCm39)	F536Y	probably damaging	Het
Magee1	A	T	X: 104,166,564 (GRCm39)	D783V	probably damaging	Het
Marveld3	A	T	8: 110,686,434 (GRCm39)	V144E	probably benign	Het
Mcam	T	C	9: 44,047,932 (GRCm39)	V59A	probably damaging	Het
Mdga2	C	T	12: 66,915,515 (GRCm39)	E47K	probably damaging	Het
Metrn	T	A	17: 26,015,601 (GRCm39)	E38V	probably damaging	Het
Mfrp	T	C	9: 44,015,015 (GRCm39)	L314P	probably benign	Het
Mgat4f	T	A	1: 134,318,251 (GRCm39)	M341K	probably damaging	Het
Mideas	G	T	12: 84,219,809 (GRCm39)	P382T	probably damaging	Het
Mospd2	A	G	X: 163,739,473 (GRCm39)		probably null	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myh6	C	T	14: 55,191,228 (GRCm39)	R871H	probably damaging	Het
Nup214	C	T	2: 31,924,478 (GRCm39)	S1669F	probably damaging	Het
Or13c7b	A	G	4: 43,821,178 (GRCm39)	F61S	probably damaging	Het
Or5b111	T	C	19: 13,291,485 (GRCm39)	T55A	probably benign	Het
Or8i2	T	A	2: 86,852,009 (GRCm39)	N293I	probably damaging	Het
Parvb	A	G	15: 84,116,369 (GRCm39)	K33E	possibly damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Pkd2	A	C	5: 104,603,456 (GRCm39)		probably benign	Het
Reps1	T	A	10: 17,969,061 (GRCm39)	D206E	probably benign	Het
Rimkla	T	A	4: 119,331,779 (GRCm39)	M140L	possibly damaging	Het
Rnf13	T	G	3: 57,709,907 (GRCm39)	I150S	probably null	Het
Rxfp4	C	T	3: 88,560,200 (GRCm39)	A84T	probably damaging	Het
Serpinb8	T	A	1: 107,533,657 (GRCm39)	D237E	probably benign	Het
Sgo2b	T	G	8: 64,381,057 (GRCm39)	T592P	probably benign	Het
Slc35d1	A	T	4: 103,062,349 (GRCm39)	I228N	probably damaging	Het
Slc39a1	T	G	3: 90,156,757 (GRCm39)	H104Q	probably benign	Het
Slc6a6	T	C	6: 91,712,161 (GRCm39)	V230A	probably benign	Het
Slc9a3	A	G	13: 74,269,722 (GRCm39)	E30G	probably benign	Het
Slc9c1	A	G	16: 45,413,827 (GRCm39)	Y985C	probably benign	Het
Supt6	A	G	11: 78,121,758 (GRCm39)	F298S	probably damaging	Het
Thoc2l	T	C	5: 104,666,857 (GRCm39)	F460L	probably benign	Het
Tmem131	C	A	1: 36,851,690 (GRCm39)	V938L	probably benign	Het
Tnpo3	A	G	6: 29,589,035 (GRCm39)	V105A	probably benign	Het
Ttc7	T	C	17: 87,654,135 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,727,532 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,270,075 (GRCm39)		probably null	Het
Usp36	A	G	11: 118,159,491 (GRCm39)	L486S	probably benign	Het
Uty	T	C	Y: 1,239,816 (GRCm39)	I72V	probably benign	Het
Vps51	A	G	19: 6,118,164 (GRCm39)	V777A	probably benign	Het
Zfp160	A	G	17: 21,247,244 (GRCm39)	K598R	probably benign	Het
Zfp39	T	C	11: 58,781,158 (GRCm39)	N535D	probably benign	Het
Zfp804a	A	G	2: 82,089,008 (GRCm39)	T946A	probably benign	Het

Other mutations in Tada2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03256:Tada2a	APN	11	83,978,018 (GRCm39)	splice site	probably benign
PIT4131001:Tada2a	UTSW	11	83,970,563 (GRCm39)	missense	probably damaging	0.98
R1438:Tada2a	UTSW	11	84,000,837 (GRCm39)	missense	probably damaging	0.99
R1615:Tada2a	UTSW	11	83,993,926 (GRCm39)	missense	probably damaging	1.00
R1688:Tada2a	UTSW	11	83,975,585 (GRCm39)	critical splice acceptor site	probably null
R1693:Tada2a	UTSW	11	83,972,895 (GRCm39)	missense	probably damaging	1.00
R2147:Tada2a	UTSW	11	83,970,455 (GRCm39)	missense	probably damaging	1.00
R2150:Tada2a	UTSW	11	83,970,455 (GRCm39)	missense	probably damaging	1.00
R3980:Tada2a	UTSW	11	83,993,946 (GRCm39)	missense	probably benign	0.41
R5364:Tada2a	UTSW	11	84,011,973 (GRCm39)	missense	probably benign
R5686:Tada2a	UTSW	11	83,970,428 (GRCm39)	missense	possibly damaging	0.59
R7117:Tada2a	UTSW	11	83,976,514 (GRCm39)	missense	probably damaging	0.99
R7439:Tada2a	UTSW	11	84,017,812 (GRCm39)	critical splice donor site	probably null
Z1177:Tada2a	UTSW	11	83,984,493 (GRCm39)	start codon destroyed	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCTGACGCACTATCCTGAC -3'
(R):5'- ACCTGCTGGATGAATTTGTGAG -3'

Sequencing Primer
(F):5'- GCAGCGCTTTACAGAGGG -3'
(R):5'- TGTGAGAATGACAGTGCTAATTACG -3'

Posted On

2014-10-01