Mutagenetix > Incidental Mutation

Incidental Mutation 'R1688:Tada2a'

189509

Institutional Source

Beutler Lab

Gene Symbol

Tada2a

Ensembl Gene

ENSMUSG00000018651

Gene Name

transcriptional adaptor 2A

Synonyms

D030022J10Rik, Tada2l

MMRRC Submission

039721-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

R1688 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83969746-84020426 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 83975585 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119022 (fasta)

Gene Model

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

AlphaFold

Q8CHV6

Predicted Effect

probably null
Transcript: ENSMUST00000018795

SMART Domains

Protein: ENSMUSP00000018795
Gene: ENSMUSG00000018651

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

noncoding transcript
Transcript: ENSMUST00000134994

Predicted Effect

probably null
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

0.9586

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.7%

Validation Efficiency

100% (71/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	T	C	13: 61,002,695 (GRCm39)	T20A	probably benign	Het
Acaca	T	G	11: 84,129,722 (GRCm39)	V359G	probably damaging	Het
Adgb	G	A	10: 10,226,061 (GRCm39)	R1359*	probably null	Het
Aggf1	T	C	13: 95,501,275 (GRCm39)	E369G	probably damaging	Het
Alkbh8	T	A	9: 3,382,765 (GRCm39)	D418E	probably damaging	Het
Alox8	T	C	11: 69,080,732 (GRCm39)	D203G	probably benign	Het
Ank	A	G	15: 27,557,320 (GRCm39)	D168G	probably damaging	Het
Ap5m1	A	G	14: 49,318,291 (GRCm39)		probably null	Het
Arhgap45	A	G	10: 79,864,929 (GRCm39)	Y964C	probably damaging	Het
Arhgef2	A	G	3: 88,547,607 (GRCm39)	D571G	probably benign	Het
Bdh2	A	T	3: 135,007,399 (GRCm39)	Y223F	possibly damaging	Het
Bin1	T	C	18: 32,552,988 (GRCm39)		probably benign	Het
Bin1	G	A	18: 32,558,025 (GRCm39)		probably benign	Het
Cacna1g	T	A	11: 94,316,779 (GRCm39)	M1514L	possibly damaging	Het
Cd109	T	A	9: 78,612,373 (GRCm39)	F1253L	probably benign	Het
Cfap57	T	A	4: 118,426,843 (GRCm39)	E1065V	probably null	Het
Chmp2b	T	C	16: 65,347,922 (GRCm39)	N14S	probably benign	Het
Cplane1	T	C	15: 8,258,093 (GRCm39)	V2113A	probably benign	Het
Crybg1	A	T	10: 43,849,794 (GRCm39)	F1660L	probably damaging	Het
Cyp2c37	T	G	19: 39,982,887 (GRCm39)		probably null	Het
Daam1	A	T	12: 71,993,820 (GRCm39)	I408F	unknown	Het
Dsc3	T	A	18: 20,099,284 (GRCm39)	D744V	probably damaging	Het
Eprs1	T	C	1: 185,117,093 (GRCm39)	F379L	probably damaging	Het
Ewsr1	G	T	11: 5,022,870 (GRCm39)	D417E	unknown	Het
Eya4	A	T	10: 22,999,759 (GRCm39)	N424K	probably damaging	Het
Gm9312	A	C	12: 24,301,920 (GRCm39)		noncoding transcript	Het
Havcr2	T	C	11: 46,370,191 (GRCm39)	I206T	probably damaging	Het
Igfbp2	T	C	1: 72,864,125 (GRCm39)		probably null	Het
Ikzf2	T	C	1: 69,581,439 (GRCm39)	K196R	possibly damaging	Het
Il12rb1	G	A	8: 71,272,046 (GRCm39)	G587R	probably damaging	Het
Immt	A	T	6: 71,833,995 (GRCm39)	H208L	probably damaging	Het
Kcnq2	C	T	2: 180,728,826 (GRCm39)	V540I	probably damaging	Het
Klk1b8	T	A	7: 43,595,229 (GRCm39)		probably benign	Het
Mc2r	T	A	18: 68,541,090 (GRCm39)	I68F	possibly damaging	Het
Neil3	T	C	8: 54,054,069 (GRCm39)	E320G	probably damaging	Het
Nell2	T	C	15: 95,329,494 (GRCm39)	T276A	probably damaging	Het
Nphp3	T	C	9: 103,880,323 (GRCm39)	L115P	probably damaging	Het
Nras	T	C	3: 102,967,689 (GRCm39)	L95P	probably benign	Het
Ogt	G	A	X: 100,699,296 (GRCm39)	V190I	probably damaging	Het
Or11h6	A	T	14: 50,880,705 (GRCm39)	K322N	probably benign	Het
Or5t17	A	G	2: 86,832,730 (GRCm39)	Y139C	probably benign	Het
P2ry6	T	A	7: 100,587,591 (GRCm39)	H256L	probably damaging	Het
Pcbp4	T	C	9: 106,338,533 (GRCm39)	S153P	probably damaging	Het
Pclo	T	C	5: 14,838,507 (GRCm39)		probably null	Het
Per2	A	G	1: 91,351,551 (GRCm39)	L985P	probably damaging	Het
Pgap6	C	T	17: 26,337,882 (GRCm39)	A422V	possibly damaging	Het
Phip	T	C	9: 82,753,710 (GRCm39)	N1678S	probably benign	Het
Pkd1l3	A	G	8: 110,350,450 (GRCm39)	S432G	probably benign	Het
Plin4	T	A	17: 56,416,363 (GRCm39)	D47V	possibly damaging	Het
Ppp2cb	A	G	8: 34,105,480 (GRCm39)	I163M	probably benign	Het
Ptpdc1	T	C	13: 48,739,700 (GRCm39)	E577G	probably benign	Het
Ptprd	G	T	4: 75,900,921 (GRCm39)	P1063T	probably damaging	Het
Ptpru	T	C	4: 131,514,656 (GRCm39)	D866G	probably benign	Het
Rdx	T	C	9: 51,972,211 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,680,422 (GRCm39)	R760H	probably damaging	Het
Rhno1	A	G	6: 128,334,897 (GRCm39)	V142A	probably benign	Het
Sema5a	C	T	15: 32,669,570 (GRCm39)	T698I	probably benign	Het
Serpina3a	A	T	12: 104,084,902 (GRCm39)	D99V	probably benign	Het
Slc22a3	A	T	17: 12,652,694 (GRCm39)	M350K	probably damaging	Het
Spata31d1b	T	A	13: 59,863,274 (GRCm39)	S141T	possibly damaging	Het
Tspan10	A	G	11: 120,333,608 (GRCm39)	M2V	probably damaging	Het
Ttll11	T	C	2: 35,685,391 (GRCm39)	T566A	probably damaging	Het
Vwa8	A	G	14: 79,438,543 (GRCm39)	Q1872R	possibly damaging	Het
Zfp605	T	A	5: 110,276,907 (GRCm39)	I675N	possibly damaging	Het
Zkscan8	A	T	13: 21,704,324 (GRCm39)	N538K	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
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
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'- TGACTCCAGTCCTGACTGCAAACC -3'
(R):5'- AGTGATGTCCCCTGTTAAGAGCCC -3'

Sequencing Primer
(F):5'- CTCTGCTCTGACAGAGAAGTC -3'
(R):5'- TCTTTGAGCTGCcagtgg -3'

Posted On

2014-05-14