Incidental Mutation 'R3980:Tada2a'
ID 311274
Institutional Source Beutler Lab
Gene Symbol Tada2a
Ensembl Gene ENSMUSG00000018651
Gene Name transcriptional adaptor 2A
Synonyms D030022J10Rik, Tada2l
MMRRC Submission 040843-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.857) question?
Stock # R3980 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 83969746-84020426 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 83993946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 179 (F179L)
Ref Sequence ENSEMBL: ENSMUSP00000018795 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018795]
AlphaFold Q8CHV6
PDB Structure Structural and functional analysis of ada2 alpha swirm domain [SOLUTION NMR]
Structural and functional analysis of ADA2 alpha swirm domain [SOLUTION NMR]
Solution structure of SWIRM domain of mouse transcriptional adaptor 2-like [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000018795
AA Change: F179L

PolyPhen 2 Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000018795
Gene: ENSMUSG00000018651
AA Change: F179L

DomainStartEndE-ValueType
Blast:ZnF_ZZ 11 57 2e-25 BLAST
SANT 71 120 3.1e-10 SMART
low complexity region 134 143 N/A INTRINSIC
Pfam:SWIRM 364 441 5.3e-11 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Many DNA-binding transcriptional activator proteins enhance the initiation rate of RNA polymerase II-mediated gene transcription by interacting functionally with the general transcription machinery bound at the basal promoter. Adaptor proteins are usually required for this activation, possibly to acetylate and destabilize nucleosomes, thereby relieving chromatin constraints at the promoter. The protein encoded by this gene is a transcriptional activator adaptor and has been found to be part of the PCAF histone acetylase complex. Several alternatively spliced transcript variants encoding different isoforms of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb1 G A 15: 74,454,792 (GRCm39) G268R probably damaging Het
Amacr T A 15: 10,989,015 (GRCm39) Y240* probably null Het
Ankhd1 A T 18: 36,780,666 (GRCm39) H1906L probably damaging Het
Arhgef25 C A 10: 127,023,089 (GRCm39) C106F probably damaging Het
Bean1 A T 8: 104,937,730 (GRCm39) Q103L possibly damaging Het
Ccr9 A T 9: 123,608,441 (GRCm39) N41I probably benign Het
Ceacam16 A G 7: 19,592,558 (GRCm39) F117L probably benign Het
Col4a1 T C 8: 11,289,155 (GRCm39) probably benign Het
Csk A G 9: 57,538,063 (GRCm39) Y48H probably damaging Het
Csmd1 T A 8: 15,956,056 (GRCm39) K3384* probably null Het
Ctnnd2 T A 15: 30,669,589 (GRCm39) H399Q probably benign Het
Cutal T C 2: 34,772,325 (GRCm39) Y30H possibly damaging Het
Cybb T C X: 9,310,827 (GRCm39) Y425C probably damaging Het
Dab2 A G 15: 6,464,644 (GRCm39) probably null Het
Defb30 C A 14: 63,273,421 (GRCm39) C64F probably damaging Het
Eif2a T C 3: 58,446,960 (GRCm39) I45T probably benign Het
Esyt1 T A 10: 128,347,393 (GRCm39) D1044V probably damaging Het
Gabpb2 A T 3: 95,096,081 (GRCm39) V382E probably damaging Het
Glb1 T A 9: 114,246,132 (GRCm39) I61K probably damaging Het
Insyn2b G A 11: 34,352,678 (GRCm39) C240Y probably benign Het
Kcnt1 T C 2: 25,783,226 (GRCm39) V263A possibly damaging Het
Kdm5b A G 1: 134,547,408 (GRCm39) D1019G probably benign Het
Klhl2 A T 8: 65,196,109 (GRCm39) L545M probably damaging Het
Klhl2 C A 8: 65,196,115 (GRCm39) G543C probably damaging Het
Krt31 G T 11: 99,939,030 (GRCm39) Q264K probably damaging Het
Lmnb1 A G 18: 56,864,091 (GRCm39) D232G probably damaging Het
Loxhd1 T C 18: 77,501,855 (GRCm39) F859L probably damaging Het
Map7 C A 10: 20,143,099 (GRCm39) T416K unknown Het
Med18 T A 4: 132,190,251 (GRCm39) I45F probably benign Het
Mn1 A T 5: 111,569,636 (GRCm39) H1202L possibly damaging Het
Mpp7 T C 18: 7,444,062 (GRCm39) D120G probably benign Het
Nlrp1b A T 11: 71,072,437 (GRCm39) F469I possibly damaging Het
Nos3 T A 5: 24,582,929 (GRCm39) D685E probably damaging Het
Nrap G A 19: 56,369,984 (GRCm39) A206V probably benign Het
Nuggc T C 14: 65,856,542 (GRCm39) probably null Het
Oasl1 C T 5: 115,070,957 (GRCm39) T274I probably damaging Het
Or10ak12 T A 4: 118,666,500 (GRCm39) Y187F probably benign Het
Or51a25 T C 7: 102,372,959 (GRCm39) N246S probably damaging Het
Parp3 T C 9: 106,351,267 (GRCm39) D278G probably damaging Het
Phc3 T A 3: 30,991,080 (GRCm39) Q346L probably damaging Het
Pigo A G 4: 43,019,231 (GRCm39) L1029P probably damaging Het
Plcb3 A G 19: 6,943,803 (GRCm39) I66T probably damaging Het
Plch2 T C 4: 155,069,255 (GRCm39) S1019G probably benign Het
Plekhg6 C A 6: 125,350,146 (GRCm39) C264F probably damaging Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pou4f2 G T 8: 79,162,067 (GRCm39) H179N possibly damaging Het
Prpf39 T C 12: 65,108,231 (GRCm39) probably benign Het
Rapgef1 G A 2: 29,609,662 (GRCm39) V700I probably benign Het
Rdh14 A G 12: 10,444,703 (GRCm39) I185V probably benign Het
Rnf111 A T 9: 70,349,607 (GRCm39) H785Q probably damaging Het
Rttn C T 18: 89,035,399 (GRCm39) R758W probably benign Het
Sik3 G A 9: 46,113,361 (GRCm39) V601M probably damaging Het
Slc22a14 T C 9: 119,007,552 (GRCm39) T286A probably benign Het
Slc36a3 G A 11: 55,026,209 (GRCm39) T203I probably benign Het
Spata31 A T 13: 65,070,468 (GRCm39) Q872L probably benign Het
Spata31d1c A G 13: 65,182,974 (GRCm39) D172G possibly damaging Het
Sphkap A T 1: 83,245,215 (GRCm39) probably null Het
Stat6 T C 10: 127,491,248 (GRCm39) V463A probably damaging Het
Stx7 T C 10: 24,060,947 (GRCm39) S225P probably damaging Het
Sult2a7 A T 7: 14,207,334 (GRCm39) probably benign Het
Tas2r103 A G 6: 133,013,280 (GRCm39) L262P probably benign Het
Tfap2d A G 1: 19,236,187 (GRCm39) I382V possibly damaging Het
Tshr C A 12: 91,504,517 (GRCm39) A485D probably damaging Het
Vmn1r32 T A 6: 66,530,698 (GRCm39) Y26F probably damaging Het
Vmn1r5 A G 6: 56,962,636 (GRCm39) T104A probably damaging Het
Wbp1l T A 19: 46,642,396 (GRCm39) probably null Het
Other mutations in Tada2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03256:Tada2a APN 11 83,978,018 (GRCm39) splice site probably benign
PIT4131001:Tada2a UTSW 11 83,970,563 (GRCm39) missense probably damaging 0.98
R1438:Tada2a UTSW 11 84,000,837 (GRCm39) missense probably damaging 0.99
R1615:Tada2a UTSW 11 83,993,926 (GRCm39) missense probably damaging 1.00
R1688:Tada2a UTSW 11 83,975,585 (GRCm39) critical splice acceptor site probably null
R1693:Tada2a UTSW 11 83,972,895 (GRCm39) missense probably damaging 1.00
R2146:Tada2a UTSW 11 83,970,455 (GRCm39) missense probably damaging 1.00
R2147:Tada2a UTSW 11 83,970,455 (GRCm39) missense probably damaging 1.00
R2150:Tada2a UTSW 11 83,970,455 (GRCm39) missense probably damaging 1.00
R5364:Tada2a UTSW 11 84,011,973 (GRCm39) missense probably benign
R5686:Tada2a UTSW 11 83,970,428 (GRCm39) missense possibly damaging 0.59
R7117:Tada2a UTSW 11 83,976,514 (GRCm39) missense probably damaging 0.99
R7439:Tada2a UTSW 11 84,017,812 (GRCm39) critical splice donor site probably null
Z1177:Tada2a UTSW 11 83,984,493 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- TGGCAAGAAGGTACATTCAGC -3'
(R):5'- TATTGTGGTATCCCAGCGCTC -3'

Sequencing Primer
(F):5'- GTAGTGCCTGAATCCAACCCTG -3'
(R):5'- GTATCCCAGCGCTCTTTTTCTATAAC -3'
Posted On 2015-04-29