Mutagenetix > Incidental Mutation

Incidental Mutation 'R2147:Tada2a'

233936

Institutional Source

Beutler Lab

Gene Symbol

Tada2a

Ensembl Gene

ENSMUSG00000018651

Gene Name

transcriptional adaptor 2A

Synonyms

D030022J10Rik, Tada2l

MMRRC Submission

040150-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.857) question?

Stock #

R2147 (G1)

Quality Score

225

Status

Not 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: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930523C07Rik	T	A	1: 159,903,003 (GRCm39)	M91K	probably benign	Het
Abr	T	C	11: 76,346,474 (GRCm39)	R437G	probably damaging	Het
Acaca	T	G	11: 84,167,362 (GRCm39)	D1045E	probably benign	Het
Adam23	A	T	1: 63,573,521 (GRCm39)		probably null	Het
Adam34	A	G	8: 44,105,538 (GRCm39)	Y36H	probably benign	Het
Alg11	G	A	8: 22,555,309 (GRCm39)	G108D	probably damaging	Het
Alox12e	A	T	11: 70,210,771 (GRCm39)	I316N	probably damaging	Het
Arid1a	A	T	4: 133,408,677 (GRCm39)	F1943L	unknown	Het
Armh4	T	C	14: 49,989,028 (GRCm39)	D647G	probably benign	Het
Auh	G	A	13: 52,989,532 (GRCm39)	P308L	probably benign	Het
BC035044	T	C	6: 128,867,867 (GRCm39)		probably benign	Het
Bcor	G	A	X: 11,923,862 (GRCm39)	A578V	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
Ccnf	A	T	17: 24,449,288 (GRCm39)		probably null	Het
Cdadc1	A	G	14: 59,835,202 (GRCm39)		probably null	Het
Cep57l1	A	G	10: 41,616,895 (GRCm39)	Y131H	probably damaging	Het
Cfap251	T	C	5: 123,394,254 (GRCm39)	V381A	probably benign	Het
Cfap44	A	G	16: 44,272,047 (GRCm39)	R1267G	probably benign	Het
Chd3	A	T	11: 69,239,854 (GRCm39)	L1658Q	probably benign	Het
Chl1	T	C	6: 103,692,362 (GRCm39)		probably null	Het
Chpf2	T	A	5: 24,797,033 (GRCm39)	F660I	probably damaging	Het
Cmas	T	A	6: 142,717,015 (GRCm39)	D302E	probably benign	Het
Cpne3	T	A	4: 19,536,562 (GRCm39)	M233L	probably benign	Het
Csmd3	CCTTTGCGCTT	CCTT	15: 47,604,632 (GRCm39)		probably null	Het
Dennd3	T	G	15: 73,395,336 (GRCm39)	L143R	probably damaging	Het
Dnah2	T	C	11: 69,406,587 (GRCm39)	M552V	probably benign	Het
Dock2	A	G	11: 34,179,472 (GRCm39)		probably null	Het
Ergic1	A	G	17: 26,855,024 (GRCm39)		probably null	Het
Fbxl15	A	T	19: 46,317,627 (GRCm39)	D103V	probably damaging	Het
Gm4781	C	A	10: 100,232,414 (GRCm39)		noncoding transcript	Het
Hpca	A	G	4: 129,012,278 (GRCm39)	I86T	possibly damaging	Het
Katnip	T	A	7: 125,464,492 (GRCm39)	H1286Q	probably damaging	Het
Lamb3	T	C	1: 193,010,212 (GRCm39)	V275A	probably benign	Het
Lipe	G	T	7: 25,087,946 (GRCm39)	A38E	probably benign	Het
Lrrk1	A	T	7: 65,935,159 (GRCm39)		probably null	Het
Lrsam1	T	C	2: 32,835,891 (GRCm39)	K292R	probably damaging	Het
Mbtps1	A	T	8: 120,265,598 (GRCm39)	H316Q	probably benign	Het
Mms22l	T	A	4: 24,580,063 (GRCm39)	Y525*	probably null	Het
Mrps14	T	C	1: 160,022,862 (GRCm39)	L9P	possibly damaging	Het
Mycbp2	G	A	14: 103,393,358 (GRCm39)	H3068Y	probably damaging	Het
Myo15a	A	G	11: 60,401,055 (GRCm39)	D2992G	possibly damaging	Het
N4bp2	T	A	5: 65,966,543 (GRCm39)	L1327Q	probably damaging	Het
Nradd	A	T	9: 110,451,243 (GRCm39)	F42I	probably benign	Het
Or5k8	T	A	16: 58,644,842 (GRCm39)	I77F	probably damaging	Het
Pank1	T	C	19: 34,804,754 (GRCm39)	H134R	probably benign	Het
Pcdh7	T	A	5: 58,286,458 (GRCm39)	M1178K	possibly damaging	Het
Pcnx3	A	T	19: 5,717,633 (GRCm39)	I1084N	probably damaging	Het
Pdcd11	A	G	19: 47,093,191 (GRCm39)	M490V	probably benign	Het
Phf2	T	C	13: 48,958,165 (GRCm39)	K950E	unknown	Het
Pitpnc1	C	T	11: 107,103,344 (GRCm39)	A252T	probably damaging	Het
Prickle2	A	G	6: 92,402,652 (GRCm39)	L112P	probably damaging	Het
Prpf8	A	G	11: 75,381,357 (GRCm39)	I231V	probably benign	Het
Scin	T	A	12: 40,130,984 (GRCm39)	M310L	probably benign	Het
Serpina3m	T	A	12: 104,355,483 (GRCm39)	I50N	probably benign	Het
Skint8	C	G	4: 111,794,274 (GRCm39)	N221K	probably damaging	Het
Slc22a23	C	T	13: 34,366,990 (GRCm39)	V673M	probably benign	Het
Slc24a5	A	G	2: 124,929,361 (GRCm39)	D368G	probably damaging	Het
Slc28a1	A	T	7: 80,776,015 (GRCm39)	Q237L	possibly damaging	Het
Smchd1	T	A	17: 71,705,583 (GRCm39)	K1005N	possibly damaging	Het
Stim2	T	C	5: 54,262,717 (GRCm39)	Y320H	probably damaging	Het
Syne3	T	A	12: 104,919,357 (GRCm39)	D512V	probably damaging	Het
Tcp10a	T	C	17: 7,601,701 (GRCm39)	S216P	probably damaging	Het
Tmem178b	A	T	6: 40,184,435 (GRCm39)	Q111L	probably damaging	Het
Tmem236	A	G	2: 14,223,861 (GRCm39)	I217V	probably benign	Het
Tmem45b	A	G	9: 31,340,277 (GRCm39)	V128A	probably benign	Het
Tnfaip2	T	C	12: 111,412,456 (GRCm39)	Y286H	probably damaging	Het
Tsc2	T	A	17: 24,840,116 (GRCm39)	I427L	possibly damaging	Het
Ttc17	T	A	2: 94,132,139 (GRCm39)	N1180I	possibly damaging	Het
Ubr1	T	G	2: 120,694,811 (GRCm39)	D1707A	probably damaging	Het
Vmn1r11	A	G	6: 57,114,583 (GRCm39)	I82M	probably benign	Het
Vmn2r129	T	C	4: 156,687,014 (GRCm39)		noncoding transcript	Het
Vps41	G	T	13: 19,023,904 (GRCm39)		probably null	Het
Wnt5a	A	G	14: 28,235,274 (GRCm39)	Y86C	probably damaging	Het
Zfp629	T	C	7: 127,209,616 (GRCm39)	H731R	probably damaging	Het
Zfp712	T	C	13: 67,189,960 (GRCm39)	E189G	possibly damaging	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
R2146: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'- TGACGCACTATCCTGACAACAG -3'
(R):5'- ACCTGCTGGATGAATTTGTGAG -3'

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

Posted On

2014-10-01