Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03256:Tada3'

414642

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tada3

Ensembl Gene

ENSMUSG00000048930

Gene Name

transcriptional adaptor 3

Synonyms

1110004B19Rik, ADA3, Tada3l

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03256

Quality Score

Status

Chromosome

Chromosomal Location

113343594-113354799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 113352092 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 112 (H112Q)

Ref Sequence

ENSEMBL: ENSMUSP00000043363 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032410] [ENSMUST00000043333] [ENSMUST00000099118] [ENSMUST00000156898] [ENSMUST00000203578] [ENSMUST00000204802] [ENSMUST00000193384] [ENSMUST00000171058]

AlphaFold

Q8R0L9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032410
AA Change: H112Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032410
Gene: ENSMUSG00000048930
AA Change: H112Q

Domain	Start	End	E-Value	Type
coiled coil region	47	67	N/A	INTRINSIC
low complexity region	108	121	N/A	INTRINSIC
Pfam:Ada3	309	430	1e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043333
AA Change: H112Q

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043363
Gene: ENSMUSG00000048930
AA Change: H112Q

Domain	Start	End	E-Value	Type
coiled coil region	47	67	N/A	INTRINSIC
low complexity region	108	121	N/A	INTRINSIC
Pfam:Ada3	289	413	2e-31	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099118

SMART Domains

Protein: ENSMUSP00000108736
Gene: ENSMUSG00000048930

Domain	Start	End	E-Value	Type
Pfam:Ada3	108	232	6.7e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113106

SMART Domains

Protein: ENSMUSP00000108730
Gene: ENSMUSG00000048930

Domain	Start	End	E-Value	Type
coiled coil region	47	67	N/A	INTRINSIC
low complexity region	108	121	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000113107

SMART Domains

Protein: ENSMUSP00000108731
Gene: ENSMUSG00000048930

Domain	Start	End	E-Value	Type
coiled coil region	47	67	N/A	INTRINSIC
low complexity region	108	121	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125414

Predicted Effect

probably benign
Transcript: ENSMUST00000156898

SMART Domains

Protein: ENSMUSP00000114839
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	167	8.3e-88	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203578

SMART Domains

Protein: ENSMUSP00000145344
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	77	1.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000204802

SMART Domains

Protein: ENSMUSP00000144751
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	77	1.2e-41	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193384

Predicted Effect

probably benign
Transcript: ENSMUST00000171058

SMART Domains

Protein: ENSMUSP00000131690
Gene: ENSMUSG00000079426

Domain	Start	End	E-Value	Type
Pfam:ARPC4	1	91	1.1e-46	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DNA-binding transcriptional activator proteins increase the rate of transcription by interacting with the transcriptional machinery bound to the basal promoter in conjunction with adaptor proteins, possibly by acetylation and destabilization of nucleosomes. The protein encoded by this gene is a transcriptional activator adaptor and a component of the histone acetyl transferase (HAT) coactivator complex which plays a crucial role in chromatin modulation and cell cycle progression. Along with the other components of the complex, this protein links transcriptional activators bound to specific promoters, to histone acetylation and the transcriptional machinery. The protein is also involved in the stabilization and activation of the p53 tumor suppressor protein that plays a role in the cellular response to DNA damage. Alternate splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality between E3.5 and E8.5 associated with impaired proliferation of trophoblast cells and absence of inner cell mass. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	C	T	8: 73,199,043 (GRCm39)	T150I	probably benign	Het
Adam2	T	C	14: 66,291,280 (GRCm39)	N333D	probably benign	Het
Aifm3	G	A	16: 17,324,174 (GRCm39)	R578Q	probably benign	Het
Arid2	C	A	15: 96,268,643 (GRCm39)	Q919K	probably benign	Het
Atp6v1a	T	C	16: 43,931,451 (GRCm39)		probably benign	Het
Bicd1	A	T	6: 149,415,083 (GRCm39)	T599S	probably benign	Het
Bltp1	T	C	3: 36,960,832 (GRCm39)		probably benign	Het
Catsperg2	T	A	7: 29,409,299 (GRCm39)	R601W	probably damaging	Het
Clca3a2	A	C	3: 144,792,153 (GRCm39)	S369R	possibly damaging	Het
Cyfip1	T	G	7: 55,557,182 (GRCm39)	V795G	possibly damaging	Het
Ddb1	A	G	19: 10,599,225 (GRCm39)	T544A	probably benign	Het
Defb43	T	C	14: 63,255,329 (GRCm39)	I54T	probably damaging	Het
Dera	A	G	6: 137,756,643 (GRCm39)	M89V	probably benign	Het
Fam227b	T	A	2: 125,830,923 (GRCm39)	K427I	probably damaging	Het
Frk	A	G	10: 34,483,838 (GRCm39)	I400V	probably benign	Het
Gk5	T	A	9: 96,011,106 (GRCm39)	L72H	probably damaging	Het
Gprc6a	T	A	10: 51,504,445 (GRCm39)	Y133F	possibly damaging	Het
Hecw1	A	G	13: 14,455,069 (GRCm39)	L662P	probably damaging	Het
Hecw1	G	T	13: 14,455,070 (GRCm39)	L662M	probably benign	Het
Il12b	T	A	11: 44,298,757 (GRCm39)	S71T	probably benign	Het
Kdm2a	A	T	19: 4,395,538 (GRCm39)		probably benign	Het
Lhfpl6	A	G	3: 52,950,974 (GRCm39)	R83G	possibly damaging	Het
Magel2	C	A	7: 62,030,162 (GRCm39)	T1022K	unknown	Het
Mycbp2	C	A	14: 103,426,025 (GRCm39)	V2367F	possibly damaging	Het
Nap1l3	C	T	X: 121,305,905 (GRCm39)	G271D	probably benign	Het
Nars2	T	A	7: 96,689,117 (GRCm39)	D346E	possibly damaging	Het
Nek11	T	A	9: 105,121,613 (GRCm39)	E435D	probably damaging	Het
Nfam1	C	T	15: 82,894,611 (GRCm39)	G205R	probably benign	Het
Or10aa1	T	C	1: 173,869,774 (GRCm39)	L86P	probably damaging	Het
Or1e35	A	T	11: 73,797,522 (GRCm39)	N265K	probably benign	Het
Or5b118	T	A	19: 13,448,631 (GRCm39)	M99K	probably damaging	Het
Otud3	G	A	4: 138,636,928 (GRCm39)	R78W	probably damaging	Het
Oxct2a	C	T	4: 123,216,758 (GRCm39)	A208T	probably damaging	Het
Pcdh11x	A	T	X: 119,310,607 (GRCm39)	E683D	probably benign	Het
Phtf2	C	A	5: 21,008,250 (GRCm39)	V144L	probably damaging	Het
Pkn2	T	C	3: 142,509,311 (GRCm39)		probably null	Het
Puf60	T	A	15: 75,942,445 (GRCm39)	D459V	possibly damaging	Het
Ralgapa2	A	G	2: 146,302,632 (GRCm39)		probably null	Het
Rapgef6	A	C	11: 54,548,255 (GRCm39)	Q813P	probably damaging	Het
Rsf1	A	T	7: 97,328,211 (GRCm39)	D1071V	possibly damaging	Het
Sctr	T	C	1: 119,959,289 (GRCm39)		probably benign	Het
Serpini1	A	G	3: 75,526,481 (GRCm39)	I244M	probably benign	Het
Tada2a	C	A	11: 83,978,018 (GRCm39)		probably benign	Het
Tnxb	T	A	17: 34,907,694 (GRCm39)	L1246Q	probably damaging	Het
Txndc16	T	C	14: 45,389,353 (GRCm39)	N449S	probably damaging	Het
Usp34	T	A	11: 23,370,090 (GRCm39)	Y1771*	probably null	Het
Vav2	A	T	2: 27,161,912 (GRCm39)		probably null	Het
Virma	T	C	4: 11,542,207 (GRCm39)		probably benign	Het
Vmn1r78	T	A	7: 11,886,725 (GRCm39)	I112N	probably damaging	Het
Vnn3	A	T	10: 23,727,698 (GRCm39)		probably benign	Het

Other mutations in Tada3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01635:Tada3	APN	6	113,352,973 (GRCm39)	missense	probably benign	0.41
R0208:Tada3	UTSW	6	113,343,968 (GRCm39)	missense	probably damaging	1.00
R0542:Tada3	UTSW	6	113,352,175 (GRCm39)	missense	probably damaging	0.99
R0698:Tada3	UTSW	6	113,343,968 (GRCm39)	missense	probably damaging	1.00
R2120:Tada3	UTSW	6	113,347,976 (GRCm39)	missense	possibly damaging	0.50
R4384:Tada3	UTSW	6	113,347,340 (GRCm39)	missense	probably damaging	1.00
R7844:Tada3	UTSW	6	113,347,921 (GRCm39)	missense	probably benign	0.05
R8402:Tada3	UTSW	6	113,351,774 (GRCm39)	missense	probably damaging	1.00
R9289:Tada3	UTSW	6	113,347,264 (GRCm39)	missense	possibly damaging	0.92
R9771:Tada3	UTSW	6	113,349,319 (GRCm39)	missense	probably benign	0.01
Z1176:Tada3	UTSW	6	113,352,823 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02