Incidental Mutation 'R4615:Taf3'
ID 344997
Institutional Source Beutler Lab
Gene Symbol Taf3
Ensembl Gene ENSMUSG00000025782
Gene Name TATA-box binding protein associated factor 3
Synonyms 4933439M23Rik, mTAFII140
MMRRC Submission 041826-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R4615 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 9919363-10053407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 9956901 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 422 (T422I)
Ref Sequence ENSEMBL: ENSMUSP00000026888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026888] [ENSMUST00000114909]
AlphaFold Q5HZG4
PDB Structure Solution structure of the free TAF3 PHD domain [SOLUTION NMR]
Solution structure of the TAF3 PHD domain in complex with a H3K4me3 peptide [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000026888
AA Change: T422I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: T422I

DomainStartEndE-ValueType
BTP 3 79 1.94e-34 SMART
low complexity region 159 173 N/A INTRINSIC
low complexity region 237 253 N/A INTRINSIC
low complexity region 306 325 N/A INTRINSIC
low complexity region 404 423 N/A INTRINSIC
low complexity region 447 461 N/A INTRINSIC
low complexity region 487 505 N/A INTRINSIC
coiled coil region 519 572 N/A INTRINSIC
coiled coil region 611 651 N/A INTRINSIC
coiled coil region 692 751 N/A INTRINSIC
low complexity region 779 790 N/A INTRINSIC
low complexity region 795 821 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
PHD 869 915 4.77e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114909
AA Change: T269I

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000110559
Gene: ENSMUSG00000025782
AA Change: T269I

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 84 100 N/A INTRINSIC
low complexity region 153 172 N/A INTRINSIC
low complexity region 251 270 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
low complexity region 334 352 N/A INTRINSIC
coiled coil region 366 419 N/A INTRINSIC
coiled coil region 458 498 N/A INTRINSIC
coiled coil region 539 598 N/A INTRINSIC
low complexity region 626 637 N/A INTRINSIC
low complexity region 642 668 N/A INTRINSIC
low complexity region 673 684 N/A INTRINSIC
PHD 716 762 4.77e-11 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,369,493 (GRCm39) I363V probably benign Het
Abcc9 C G 6: 142,634,833 (GRCm39) A144P possibly damaging Het
Adgrv1 C T 13: 81,642,688 (GRCm39) probably null Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Angptl3 A T 4: 98,919,598 (GRCm39) E119D probably benign Het
Atp8b1 T C 18: 64,686,170 (GRCm39) N671S probably null Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Carmil2 A G 8: 106,421,706 (GRCm39) D1019G possibly damaging Het
Cdh8 A T 8: 100,006,254 (GRCm39) I111K probably damaging Het
Cep120 T C 18: 53,847,913 (GRCm39) R649G probably damaging Het
Clptm1l A T 13: 73,755,857 (GRCm39) K158* probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cnga1 A C 5: 72,762,117 (GRCm39) L466V probably damaging Het
Cpsf1 T C 15: 76,481,137 (GRCm39) T1240A possibly damaging Het
Cubn A G 2: 13,433,560 (GRCm39) S1117P probably damaging Het
Cyp2b9 T A 7: 25,900,550 (GRCm39) L396Q probably damaging Het
Cyp8b1 A T 9: 121,745,164 (GRCm39) L56* probably null Het
Dcbld2 A G 16: 58,276,457 (GRCm39) T458A probably benign Het
Dio2 G T 12: 90,696,595 (GRCm39) P131Q probably damaging Het
Dlg5 T C 14: 24,208,236 (GRCm39) Y990C probably damaging Het
Dsc3 T C 18: 20,104,545 (GRCm39) D594G possibly damaging Het
Dsp A G 13: 38,375,608 (GRCm39) E1131G probably damaging Het
Fdx1 A T 9: 51,859,945 (GRCm39) Y21* probably null Het
Gal3st4 A G 5: 138,264,525 (GRCm39) V158A probably damaging Het
Gm10269 T A 18: 20,815,820 (GRCm39) E67D probably benign Het
Gm5773 A G 3: 93,681,339 (GRCm39) H337R probably benign Het
Gng2 C T 14: 19,941,395 (GRCm39) V16I possibly damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itprid2 A G 2: 79,492,726 (GRCm39) E1091G probably damaging Het
Lama2 C A 10: 26,857,520 (GRCm39) V3110F probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Ncapg A T 5: 45,844,741 (GRCm39) M579L probably benign Het
Oog3 A T 4: 143,884,899 (GRCm39) Y346N probably benign Het
Or10ak14 T C 4: 118,611,334 (GRCm39) T134A probably benign Het
Or14c39 T C 7: 86,343,936 (GRCm39) S91P probably damaging Het
Orm2 A G 4: 63,281,536 (GRCm39) D89G probably damaging Het
Pcdhb4 T A 18: 37,441,553 (GRCm39) S288T probably benign Het
Pcsk2 G T 2: 143,637,889 (GRCm39) C375F probably damaging Het
Pdcd10 T C 3: 75,428,398 (GRCm39) I138M probably damaging Het
Pde8a T C 7: 80,970,485 (GRCm39) W536R probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Plcl1 A T 1: 55,737,293 (GRCm39) N878I probably benign Het
Prkdc A T 16: 15,480,938 (GRCm39) D353V probably damaging Het
Psme4 C T 11: 30,784,287 (GRCm39) T954I probably benign Het
Ran A G 5: 129,099,162 (GRCm39) I115V probably benign Het
Reln A G 5: 22,177,870 (GRCm39) L1867P possibly damaging Het
S100a1 A G 3: 90,418,562 (GRCm39) V84A possibly damaging Het
Sall2 G A 14: 52,550,207 (GRCm39) P994L probably benign Het
Shtn1 A T 19: 59,010,648 (GRCm39) I273N probably benign Het
Slc17a9 T C 2: 180,373,699 (GRCm39) I40T probably benign Het
Slc29a2 T C 19: 5,079,292 (GRCm39) V305A probably damaging Het
Taar2 T A 10: 23,817,263 (GRCm39) F268I probably benign Het
Tgs1 T C 4: 3,585,156 (GRCm39) F99L probably damaging Het
Tox2 T C 2: 163,162,567 (GRCm39) L479P probably damaging Het
Ttn A G 2: 76,597,219 (GRCm39) I19898T probably damaging Het
Ulk1 G T 5: 110,936,912 (GRCm39) T3N probably damaging Het
Vars1 A T 17: 35,232,857 (GRCm39) K900N probably damaging Het
Vmn2r15 A G 5: 109,441,348 (GRCm39) V170A possibly damaging Het
Vmn2r53 A T 7: 12,316,229 (GRCm39) L530Q probably damaging Het
Zar1l G T 5: 150,441,528 (GRCm39) Q33K probably benign Het
Zdhhc16 T C 19: 41,932,122 (GRCm39) V358A possibly damaging Het
Other mutations in Taf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Taf3 APN 2 9,957,728 (GRCm39) missense probably damaging 1.00
IGL01620:Taf3 APN 2 9,957,472 (GRCm39) missense probably benign 0.00
IGL02084:Taf3 APN 2 10,047,330 (GRCm39) missense probably benign 0.08
IGL02229:Taf3 APN 2 9,957,645 (GRCm39) missense probably damaging 1.00
IGL02891:Taf3 APN 2 9,926,038 (GRCm39) missense probably damaging 1.00
IGL03173:Taf3 APN 2 9,957,738 (GRCm39) missense probably damaging 0.99
IGL03302:Taf3 APN 2 9,956,942 (GRCm39) missense probably damaging 1.00
Bathtub UTSW 2 9,956,469 (GRCm39) missense possibly damaging 0.89
Howard UTSW 2 9,955,971 (GRCm39) missense probably damaging 0.99
President UTSW 2 9,956,164 (GRCm39) missense probably damaging 0.98
R0344:Taf3 UTSW 2 9,956,709 (GRCm39) missense probably benign 0.05
R0348:Taf3 UTSW 2 10,047,455 (GRCm39) missense probably benign 0.05
R0506:Taf3 UTSW 2 9,945,804 (GRCm39) missense probably benign 0.00
R1724:Taf3 UTSW 2 9,957,177 (GRCm39) missense probably benign 0.01
R2151:Taf3 UTSW 2 9,956,377 (GRCm39) missense possibly damaging 0.82
R2154:Taf3 UTSW 2 9,956,377 (GRCm39) missense possibly damaging 0.82
R2495:Taf3 UTSW 2 9,957,644 (GRCm39) missense probably damaging 1.00
R3702:Taf3 UTSW 2 9,957,372 (GRCm39) missense possibly damaging 0.74
R3739:Taf3 UTSW 2 9,956,469 (GRCm39) missense possibly damaging 0.89
R3921:Taf3 UTSW 2 10,053,109 (GRCm39) missense probably benign 0.06
R4097:Taf3 UTSW 2 9,957,178 (GRCm39) missense possibly damaging 0.54
R4602:Taf3 UTSW 2 9,957,468 (GRCm39) missense probably damaging 0.96
R4679:Taf3 UTSW 2 10,053,375 (GRCm39) utr 5 prime probably benign
R4789:Taf3 UTSW 2 9,956,770 (GRCm39) missense probably damaging 1.00
R4801:Taf3 UTSW 2 9,955,934 (GRCm39) missense possibly damaging 0.72
R4802:Taf3 UTSW 2 9,955,934 (GRCm39) missense possibly damaging 0.72
R5201:Taf3 UTSW 2 9,956,995 (GRCm39) missense probably damaging 1.00
R5522:Taf3 UTSW 2 9,945,816 (GRCm39) missense probably damaging 1.00
R5629:Taf3 UTSW 2 9,922,989 (GRCm39) missense probably damaging 1.00
R6427:Taf3 UTSW 2 9,956,164 (GRCm39) missense probably damaging 0.98
R6492:Taf3 UTSW 2 9,955,971 (GRCm39) missense probably damaging 0.99
R6804:Taf3 UTSW 2 9,923,028 (GRCm39) missense possibly damaging 0.91
R7282:Taf3 UTSW 2 9,956,253 (GRCm39) missense probably damaging 0.96
R7293:Taf3 UTSW 2 9,956,901 (GRCm39) missense probably damaging 0.98
R7368:Taf3 UTSW 2 9,921,188 (GRCm39) missense unknown
R7637:Taf3 UTSW 2 9,945,804 (GRCm39) missense probably benign 0.00
R7686:Taf3 UTSW 2 9,956,299 (GRCm39) missense probably damaging 1.00
R8251:Taf3 UTSW 2 9,922,962 (GRCm39) missense possibly damaging 0.92
R9167:Taf3 UTSW 2 9,945,804 (GRCm39) missense probably benign 0.00
R9402:Taf3 UTSW 2 9,955,923 (GRCm39) critical splice donor site probably null
R9621:Taf3 UTSW 2 9,923,070 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TACCCCTTGTGTAGAGGCTC -3'
(R):5'- ATAGGACCCCTTCAGCCATG -3'

Sequencing Primer
(F):5'- CCCTTGTGTAGAGGCTCAGGAG -3'
(R):5'- TGTTAAAGAGACCATCCCAGTG -3'
Posted On 2015-09-25