Mutagenetix > Incidental Mutation

Incidental Mutation 'R0542:Tada3'

49980

Institutional Source

Beutler Lab

Gene Symbol

Tada3

Ensembl Gene

ENSMUSG00000048930

Gene Name

transcriptional adaptor 3

Synonyms

1110004B19Rik, ADA3, Tada3l

MMRRC Submission

038734-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0542 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113343594-113354799 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113352175 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 85 (K85E)

Ref Sequence

ENSEMBL: ENSMUSP00000043363 (fasta)

Gene Model

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

AlphaFold

Q8R0L9

Predicted Effect

probably damaging
Transcript: ENSMUST00000032410
AA Change: K85E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032410
Gene: ENSMUSG00000048930
AA Change: K85E

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 damaging
Transcript: ENSMUST00000043333
AA Change: K85E

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000043363
Gene: ENSMUSG00000048930
AA Change: K85E

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: 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: 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

Meta Mutation Damage Score

0.0910

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

99% (70/71)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12b	C	A	12: 70,210,269 (GRCm39)	N71K	possibly damaging	Het
Adgrl2	A	G	3: 148,564,854 (GRCm39)	I242T	probably damaging	Het
Adgrv1	A	G	13: 81,721,437 (GRCm39)	S714P	probably damaging	Het
Agap3	G	A	5: 24,705,184 (GRCm39)	R704Q	possibly damaging	Het
Ankrd11	T	C	8: 123,622,509 (GRCm39)	R448G	probably damaging	Het
Anks1b	T	C	10: 89,909,829 (GRCm39)		probably benign	Het
Caml	A	T	13: 55,770,974 (GRCm39)	Q24L	possibly damaging	Het
Cdc14b	G	A	13: 64,391,497 (GRCm39)	T124I	probably benign	Het
Clca3a2	A	G	3: 144,781,571 (GRCm39)		probably benign	Het
Col12a1	A	G	9: 79,512,610 (GRCm39)		probably null	Het
Crispld1	T	C	1: 17,816,992 (GRCm39)	V183A	possibly damaging	Het
Cstdc1	A	G	2: 148,624,092 (GRCm39)	N22S	probably benign	Het
Dhx40	C	T	11: 86,695,082 (GRCm39)		probably null	Het
Dmxl1	T	A	18: 50,026,761 (GRCm39)	D1956E	probably benign	Het
Dsc2	A	G	18: 20,184,283 (GRCm39)	V35A	probably damaging	Het
Dync2i2	A	G	2: 29,921,837 (GRCm39)	V508A	probably damaging	Het
Elovl2	A	G	13: 41,345,452 (GRCm39)		probably benign	Het
Gapvd1	T	C	2: 34,615,048 (GRCm39)		probably benign	Het
Gnaq	T	A	19: 16,196,982 (GRCm39)	I56N	probably damaging	Het
Gpr139	T	C	7: 118,744,306 (GRCm39)	D93G	probably benign	Het
Hars1	C	T	18: 36,904,234 (GRCm39)	R215H	probably benign	Het
Helz2	C	A	2: 180,873,882 (GRCm39)	W2204L	probably damaging	Het
Ift70b	A	G	2: 75,767,055 (GRCm39)	V566A	probably damaging	Het
Itgb6	A	T	2: 60,435,480 (GRCm39)	C757S	possibly damaging	Het
Kpnb1	G	A	11: 97,078,398 (GRCm39)	T5I	probably benign	Het
Krt82	T	C	15: 101,454,035 (GRCm39)		probably benign	Het
Lgals9	T	A	11: 78,860,546 (GRCm39)	K175N	possibly damaging	Het
Lrp2	A	G	2: 69,258,998 (GRCm39)	I4564T	probably benign	Het
Mblac1	A	G	5: 138,192,798 (GRCm39)	T47A	possibly damaging	Het
Med12l	G	A	3: 58,949,822 (GRCm39)	D182N	probably damaging	Het
Megf9	A	G	4: 70,353,585 (GRCm39)	I407T	probably benign	Het
Mtmr6	A	T	14: 60,529,578 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,624,907 (GRCm39)	T2173A	probably benign	Het
Mzt1	A	T	14: 99,277,938 (GRCm39)		probably benign	Het
Narf	T	C	11: 121,143,690 (GRCm39)	L444P	probably damaging	Het
Nsd1	A	T	13: 55,408,271 (GRCm39)	Q1305L	possibly damaging	Het
Ntsr1	A	G	2: 180,184,374 (GRCm39)	Y359C	probably damaging	Het
Olfm1	A	G	2: 28,104,640 (GRCm39)	D159G	possibly damaging	Het
Or2l13b	A	T	16: 19,348,732 (GRCm39)	*313R	probably null	Het
Pcdh1	C	T	18: 38,322,975 (GRCm39)	V953I	probably damaging	Het
Pcdhb11	A	T	18: 37,556,887 (GRCm39)	D739V	probably damaging	Het
Pdgfd	A	G	9: 6,359,769 (GRCm39)	N280S	probably damaging	Het
Per2	A	T	1: 91,366,054 (GRCm39)		probably null	Het
Pfkp	G	T	13: 6,672,028 (GRCm39)	C122*	probably null	Het
Plxna4	G	A	6: 32,169,232 (GRCm39)	R1322W	probably damaging	Het
Ppox	A	G	1: 171,106,818 (GRCm39)	L202P	probably damaging	Het
Ppp1r3e	G	A	14: 55,114,588 (GRCm39)	P58L	probably benign	Het
Prr23a2	A	C	9: 98,739,086 (GRCm39)	N148T	probably benign	Het
Psd	T	C	19: 46,302,649 (GRCm39)	T842A	probably damaging	Het
Ranbp2	C	T	10: 58,314,236 (GRCm39)	A1652V	probably benign	Het
Rragd	G	A	4: 33,007,103 (GRCm39)	V144M	probably damaging	Het
Sema6a	T	G	18: 47,381,643 (GRCm39)	D968A	probably damaging	Het
Slc30a5	A	T	13: 100,945,793 (GRCm39)		probably null	Het
Snx17	G	T	5: 31,353,895 (GRCm39)		probably null	Het
Styxl2	A	T	1: 165,928,853 (GRCm39)	M253K	possibly damaging	Het
Syt14	G	T	1: 192,613,111 (GRCm39)	T563K	probably damaging	Het
Tspear	T	C	10: 77,716,921 (GRCm39)	V532A	probably benign	Het
Ttn	A	T	2: 76,723,453 (GRCm39)	C6426S	possibly damaging	Het
Unc79	T	C	12: 103,060,437 (GRCm39)		probably benign	Het
Usp19	A	G	9: 108,371,584 (GRCm39)		probably null	Het
Vav3	G	A	3: 109,434,746 (GRCm39)	D426N	probably damaging	Het
Vezt	T	C	10: 93,842,958 (GRCm39)		probably null	Het
Vldlr	G	T	19: 27,213,655 (GRCm39)	R114L	probably benign	Het
Wwc2	C	T	8: 48,321,414 (GRCm39)	V567I	unknown	Het
Zfp423	T	C	8: 88,507,237 (GRCm39)	T911A	probably damaging	Het
Zfp719	A	G	7: 43,238,677 (GRCm39)		probably null	Het
Zkscan16	A	T	4: 58,956,597 (GRCm39)	H293L	possibly damaging	Het
Zkscan6	A	C	11: 65,719,525 (GRCm39)	N515T	possibly damaging	Het
Znfx1	A	G	2: 166,897,575 (GRCm39)	S450P	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGATGCTCCTTCAGCCTTAGCC -3'
(R):5'- CTACCATGCCAAACCGTTTGTGAC -3'

Sequencing Primer
(F):5'- AGAACCTGTTGGGAGCATCATTC -3'
(R):5'- TGAATCAGAATGTAGACCTCCG -3'

Posted On

2013-06-12