Incidental Mutation 'R0208:Tada3'
ID 33470
Institutional Source Beutler Lab
Gene Symbol Tada3
Ensembl Gene ENSMUSG00000048930
Gene Name transcriptional adaptor 3
Synonyms 1110004B19Rik, ADA3, Tada3l
MMRRC Submission 038461-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0208 (G1)
Quality Score 148
Status Validated
Chromosome 6
Chromosomal Location 113343594-113354799 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113343968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 227 (L227Q)
Ref Sequence ENSEMBL: ENSMUSP00000108736 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032410] [ENSMUST00000043333] [ENSMUST00000099118]
AlphaFold Q8R0L9
Predicted Effect probably damaging
Transcript: ENSMUST00000032410
AA Change: L427Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032410
Gene: ENSMUSG00000048930
AA Change: L427Q

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 damaging
Transcript: ENSMUST00000043333
AA Change: L408Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000043363
Gene: ENSMUSG00000048930
AA Change: L408Q

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 damaging
Transcript: ENSMUST00000099118
AA Change: L227Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000108736
Gene: ENSMUSG00000048930
AA Change: L227Q

DomainStartEndE-ValueType
Pfam:Ada3 108 232 6.7e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125414
Meta Mutation Damage Score 0.3975 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.7%
Validation Efficiency 96% (67/70)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 C T 3: 59,840,110 (GRCm39) R61C probably damaging Het
Ackr4 A G 9: 103,976,860 (GRCm39) V29A probably benign Het
Adgrb1 T C 15: 74,458,656 (GRCm39) F313L probably benign Het
Arfgef2 C T 2: 166,709,342 (GRCm39) R1140W probably damaging Het
Arhgef15 A T 11: 68,837,199 (GRCm39) N797K probably benign Het
Arhgef5 A G 6: 43,250,275 (GRCm39) E342G probably damaging Het
Asb2 T A 12: 103,291,530 (GRCm39) N466Y possibly damaging Het
Atp8a1 A T 5: 67,932,064 (GRCm39) probably null Het
Cacna1b A G 2: 24,497,492 (GRCm39) S2140P probably damaging Het
Camsap2 G C 1: 136,208,738 (GRCm39) P918R probably damaging Het
Cdk7 G T 13: 100,843,022 (GRCm39) D202E probably benign Het
Cenpj G T 14: 56,801,427 (GRCm39) A182E probably benign Het
Clstn3 A G 6: 124,409,128 (GRCm39) probably benign Het
Col9a2 C T 4: 120,909,485 (GRCm39) probably benign Het
D630045J12Rik A G 6: 38,116,385 (GRCm39) M1745T probably damaging Het
Dnah11 A C 12: 118,007,509 (GRCm39) N2156K probably damaging Het
Dock3 G T 9: 106,874,195 (GRCm39) Y425* probably null Het
Eng A T 2: 32,569,005 (GRCm39) T511S probably benign Het
Gcfc2 A T 6: 81,920,444 (GRCm39) S410C probably null Het
Grik3 T A 4: 125,579,958 (GRCm39) Y568N probably damaging Het
Gsr T A 8: 34,179,383 (GRCm39) D330E possibly damaging Het
H2-M10.4 A G 17: 36,771,375 (GRCm39) W268R probably damaging Het
Hepacam2 A T 6: 3,467,505 (GRCm39) probably benign Het
Hrct1 C A 4: 43,727,384 (GRCm39) T8K possibly damaging Het
Idua T A 5: 108,829,618 (GRCm39) F447I probably damaging Het
Il2ra T C 2: 11,686,828 (GRCm39) probably benign Het
Ipcef1 A G 10: 6,870,062 (GRCm39) S113P probably damaging Het
Klk1b9 T A 7: 43,628,854 (GRCm39) N119K possibly damaging Het
Krtap9-3 C A 11: 99,488,663 (GRCm39) C73F probably damaging Het
Loxhd1 T A 18: 77,492,562 (GRCm39) F1334L possibly damaging Het
Med1 A G 11: 98,046,515 (GRCm39) probably benign Het
Med13 A G 11: 86,191,682 (GRCm39) probably benign Het
Mtor C A 4: 148,549,432 (GRCm39) H605Q probably benign Het
Muc19 A G 15: 91,777,218 (GRCm39) noncoding transcript Het
Mybphl T C 3: 108,282,731 (GRCm39) V207A probably damaging Het
Nptxr A T 15: 79,673,916 (GRCm39) C366S probably null Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5p73 A G 7: 108,064,750 (GRCm39) D73G probably damaging Het
Or8h9 G T 2: 86,789,748 (GRCm39) T18K probably damaging Het
Pcdhb18 T C 18: 37,623,240 (GRCm39) I190T possibly damaging Het
Pde3b A G 7: 114,097,216 (GRCm39) T428A probably benign Het
Pgbd1 A C 13: 21,618,651 (GRCm39) L2R probably damaging Het
Pkp4 A G 2: 59,096,780 (GRCm39) I61V probably damaging Het
Pold4 T G 19: 4,282,593 (GRCm39) Y58* probably null Het
Polr1d A C 5: 147,015,490 (GRCm39) probably null Het
Prex2 T A 1: 11,355,368 (GRCm39) D1556E probably damaging Het
Psmd1 T C 1: 86,061,463 (GRCm39) V891A possibly damaging Het
Rasip1 C A 7: 45,281,999 (GRCm39) P501T probably damaging Het
Scgb2b27 C A 7: 33,711,562 (GRCm39) E96* probably null Het
Sec16b G T 1: 157,380,505 (GRCm39) G359* probably null Het
Secisbp2 A G 13: 51,833,881 (GRCm39) T674A probably benign Het
Serpinb6c G A 13: 34,081,379 (GRCm39) S90L probably benign Het
Sgsm2 A G 11: 74,759,067 (GRCm39) I170T probably damaging Het
Slc28a1 A T 7: 80,767,454 (GRCm39) probably benign Het
Slc35d1 T C 4: 103,065,351 (GRCm39) T177A probably damaging Het
Spg11 C T 2: 121,886,177 (GRCm39) probably null Het
Spint1 T C 2: 119,078,826 (GRCm39) probably benign Het
Spta1 A G 1: 174,020,526 (GRCm39) H545R probably damaging Het
Tln1 C T 4: 43,549,151 (GRCm39) V644M probably damaging Het
Unc79 G A 12: 103,058,286 (GRCm39) V1016I probably benign Het
Usf3 C A 16: 44,037,269 (GRCm39) A583E probably damaging Het
Ush2a A C 1: 188,263,958 (GRCm39) I1612L probably damaging Het
Vmn2r6 T C 3: 64,447,333 (GRCm39) T578A probably benign Het
Zmat4 T A 8: 24,392,083 (GRCm39) M13K 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
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
Predicted Primers PCR Primer
(F):5'- TGCATACTGGCTGCACAAAGCTC -3'
(R):5'- TCCACATGCTGCCCCTGCTATAAG -3'

Sequencing Primer
(F):5'- AGGATGTTGTGGACTTCTGC -3'
(R):5'- ACCCTGGAGATGGCTTTAAC -3'
Posted On 2013-05-09