Incidental Mutation 'R8402:Tada3'
ID 652229
Institutional Source Beutler Lab
Gene Symbol Tada3
Ensembl Gene ENSMUSG00000048930
Gene Name transcriptional adaptor 3
Synonyms 1110004B19Rik, ADA3, Tada3l
MMRRC Submission 067878-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8402 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 113343594-113354799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113351774 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 177 (L177Q)
Ref Sequence ENSEMBL: ENSMUSP00000032410 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032410] [ENSMUST00000043333] [ENSMUST00000099118] [ENSMUST00000156898] [ENSMUST00000171058] [ENSMUST00000193384] [ENSMUST00000203578] [ENSMUST00000204802]
AlphaFold Q8R0L9
Predicted Effect probably damaging
Transcript: ENSMUST00000032410
AA Change: L177Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032410
Gene: ENSMUSG00000048930
AA Change: L177Q

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000043363
Gene: ENSMUSG00000048930

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Ada3 108 232 6.7e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156898
SMART Domains Protein: ENSMUSP00000114839
Gene: ENSMUSG00000079426

DomainStartEndE-ValueType
Pfam:ARPC4 1 167 8.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171058
SMART Domains Protein: ENSMUSP00000131690
Gene: ENSMUSG00000079426

DomainStartEndE-ValueType
Pfam:ARPC4 1 91 1.1e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000193384
Predicted Effect probably benign
Transcript: ENSMUST00000203578
SMART Domains Protein: ENSMUSP00000145344
Gene: ENSMUSG00000079426

DomainStartEndE-ValueType
Pfam:ARPC4 1 77 1.2e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204802
SMART Domains Protein: ENSMUSP00000144751
Gene: ENSMUSG00000079426

DomainStartEndE-ValueType
Pfam:ARPC4 1 77 1.2e-41 PFAM
Meta Mutation Damage Score 0.5353 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (36/36)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts12 A T 15: 11,263,376 (GRCm39) K579N probably damaging Het
Adcy7 T C 8: 89,035,363 (GRCm39) V89A probably benign Het
Anapc1 G A 2: 128,472,148 (GRCm39) S1458L probably benign Het
AW551984 T C 9: 39,508,949 (GRCm39) Y325C probably damaging Het
Btnl4 T C 17: 34,688,467 (GRCm39) Y437C probably damaging Het
Ccdc88a T A 11: 29,413,879 (GRCm39) S806T probably damaging Het
Clec2m T A 6: 129,300,007 (GRCm39) D157V possibly damaging Het
Ddit4l A G 3: 137,331,888 (GRCm39) T85A probably damaging Het
Dmxl1 G A 18: 50,011,393 (GRCm39) W1183* probably null Het
Dmxl1 G T 18: 50,011,409 (GRCm39) V1189L probably benign Het
Dmxl1 G C 18: 50,011,394 (GRCm39) D1184H probably benign Het
Evpl T C 11: 116,116,197 (GRCm39) D820G probably benign Het
Fam76b T C 9: 13,750,972 (GRCm39) S289P probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Gabrb2 T C 11: 42,378,131 (GRCm39) W116R probably damaging Het
Galnt7 G A 8: 57,995,953 (GRCm39) A355V probably damaging Het
Klk1b5 T G 7: 43,867,962 (GRCm39) F45V probably benign Het
Nav2 T C 7: 49,103,185 (GRCm39) V661A probably benign Het
Nfkbiz T C 16: 55,636,750 (GRCm39) N517S probably damaging Het
Or10ak16 A G 4: 118,750,716 (GRCm39) I145M probably benign Het
Or10d5 T A 9: 39,861,713 (GRCm39) Y118F probably benign Het
P2rx1 T C 11: 72,904,715 (GRCm39) F368L probably damaging Het
Palld A T 8: 62,164,440 (GRCm39) V417E probably damaging Het
Robo1 C A 16: 72,821,385 (GRCm39) A1375E probably benign Het
Rps24 G T 14: 24,540,829 (GRCm39) probably benign Het
Serpind1 A G 16: 17,154,949 (GRCm39) N259D probably benign Het
Sh3bp4 C A 1: 89,073,037 (GRCm39) N628K probably benign Het
Tcam1 T A 11: 106,177,731 (GRCm39) L508Q probably damaging Het
Thbs1 T C 2: 117,946,359 (GRCm39) S360P possibly damaging Het
Tmem33 T C 5: 67,424,718 (GRCm39) probably benign Het
Vmn2r3 A G 3: 64,178,617 (GRCm39) probably benign Het
Vwa3b A G 1: 37,204,879 (GRCm39) E121G probably damaging Het
Zfp607b T A 7: 27,402,127 (GRCm39) H194Q probably damaging Het
Zfp729b G A 13: 67,740,696 (GRCm39) P523L probably damaging Het
Other mutations in Tada3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- AAGCTGAGCCTCACTGTCTG -3'
(R):5'- GGATCCCCAAGAATGATGCTC -3'

Sequencing Primer
(F):5'- CTCACTGTCTGCAGGGGTCATG -3'
(R):5'- GAATGATGCTCCCAACAGGTTCTG -3'
Posted On 2020-10-20