Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01635:Tada3'

92972

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 #

IGL01635

Quality Score

Status

Chromosome

Chromosomal Location

113343594-113354799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113352973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 12 (H12R)

Ref Sequence

ENSEMBL: ENSMUSP00000043363 (fasta)

Gene Model

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

AlphaFold

Q8R0L9

Predicted Effect

probably benign
Transcript: ENSMUST00000032410
AA Change: H12R

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032410
Gene: ENSMUSG00000048930
AA Change: H12R

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

probably benign
Transcript: ENSMUST00000043333
AA Change: H12R

PolyPhen 2 Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000043363
Gene: ENSMUSG00000048930
AA Change: H12R

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

unknown
Transcript: ENSMUST00000193384
AA Change: H20R

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: 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: 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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	G	16: 8,431,910 (GRCm39)	I396V	probably benign	Het
Bag2	T	A	1: 33,786,013 (GRCm39)	N103I	possibly damaging	Het
Cfap95	T	C	19: 23,536,379 (GRCm39)	Y176C	probably damaging	Het
Chd1	T	C	17: 17,598,858 (GRCm39)	S107P	probably damaging	Het
Chd3	A	T	11: 69,252,076 (GRCm39)		probably benign	Het
Cytip	T	C	2: 58,038,243 (GRCm39)	E106G	probably damaging	Het
Dcp1b	T	A	6: 119,183,498 (GRCm39)	I195N	probably damaging	Het
Ddhd1	C	A	14: 45,867,037 (GRCm39)	V322F	probably null	Het
Esrrg	A	T	1: 187,930,797 (GRCm39)	D296V	probably damaging	Het
F5	A	G	1: 164,035,427 (GRCm39)	K1867R	probably benign	Het
Gm10717	C	A	9: 3,025,511 (GRCm39)	A32D	probably damaging	Het
Gm10717	C	A	9: 3,025,506 (GRCm39)	F30L	possibly damaging	Het
Gstt1	G	T	10: 75,629,951 (GRCm39)	T54K	probably damaging	Het
Ighmbp2	C	T	19: 3,317,265 (GRCm39)	V536I	possibly damaging	Het
Mphosph8	A	T	14: 56,910,003 (GRCm39)	R119W	probably damaging	Het
Negr1	A	G	3: 156,267,929 (GRCm39)	D33G	probably benign	Het
Or2l13b	A	G	16: 19,348,845 (GRCm39)	V275A	probably benign	Het
Or7d10	A	T	9: 19,831,780 (GRCm39)	I92L	probably damaging	Het
Plbd2	T	C	5: 120,637,114 (GRCm39)	D116G	probably damaging	Het
Pold1	A	T	7: 44,185,401 (GRCm39)	V733E	probably damaging	Het
Prorsd1	T	A	11: 29,463,467 (GRCm39)	K98N	probably benign	Het
Rasal2	G	T	1: 156,991,394 (GRCm39)	L611I	probably damaging	Het
Rffl	G	A	11: 82,703,378 (GRCm39)	R147C	probably benign	Het
Rpl27rt	A	T	18: 34,870,795 (GRCm39)	M110L	probably benign	Het
Sdad1	A	G	5: 92,445,019 (GRCm39)	M315T	probably damaging	Het
Shprh	T	A	10: 11,045,763 (GRCm39)	Y861*	probably null	Het
Six4	G	A	12: 73,155,971 (GRCm39)	A324V	probably benign	Het
Stab2	T	C	10: 86,816,992 (GRCm39)	D135G	probably benign	Het
Zap70	A	G	1: 36,810,238 (GRCm39)	D116G	probably damaging	Het

Other mutations in Tada3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03256:Tada3	APN	6	113,352,092 (GRCm39)	missense	possibly damaging	0.83
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

2013-12-09