Incidental Mutation 'R6427:Taf3'
ID 518350
Institutional Source Beutler Lab
Gene Symbol Taf3
Ensembl Gene ENSMUSG00000025782
Gene Name TATA-box binding protein associated factor 3
Synonyms 4933439M23Rik, mTAFII140
MMRRC Submission 044566-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R6427 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 9919363-10053407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9956164 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 515 (F515I)
Ref Sequence ENSEMBL: ENSMUSP00000110559 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026888] [ENSMUST00000114909]
AlphaFold Q5HZG4
Predicted Effect probably benign
Transcript: ENSMUST00000026888
AA Change: F668I

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: F668I

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: F515I

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110559
Gene: ENSMUSG00000025782
AA Change: F515I

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
Meta Mutation Damage Score 0.0619 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.1%
Validation Efficiency 93% (39/42)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Ankmy2 A G 12: 36,237,710 (GRCm39) S270G possibly damaging Het
Anxa2 T A 9: 69,383,431 (GRCm39) probably null Het
Arid1a G T 4: 133,408,835 (GRCm39) P1891T unknown Het
Atn1 G T 6: 124,723,139 (GRCm39) probably benign Het
Atp8b3 A T 10: 80,356,157 (GRCm39) probably null Het
Cab39l A C 14: 59,743,719 (GRCm39) K94N possibly damaging Het
Cacna2d2 G T 9: 107,392,641 (GRCm39) M528I possibly damaging Het
Ccnc T A 4: 21,747,578 (GRCm39) probably null Het
Cfap251 T C 5: 123,464,596 (GRCm39) L1268P probably damaging Het
Clasp2 C T 9: 113,721,512 (GRCm39) T774I probably damaging Het
Cngb1 C T 8: 96,024,387 (GRCm39) probably benign Het
Cpt1a T A 19: 3,412,156 (GRCm39) F209L probably damaging Het
Cyp2j7 C A 4: 96,115,904 (GRCm39) D181Y probably damaging Het
Daam2 C T 17: 49,776,404 (GRCm39) E828K probably damaging Het
Ddr1 C A 17: 35,998,114 (GRCm39) R477L probably benign Het
Ech1 A G 7: 28,525,310 (GRCm39) T22A probably benign Het
Fbln5 T C 12: 101,728,081 (GRCm39) D294G possibly damaging Het
Fkbp15 T C 4: 62,241,439 (GRCm39) I569V probably benign Het
Hmcn1 G T 1: 150,573,227 (GRCm39) R2141S possibly damaging Het
Kat6b T C 14: 21,567,480 (GRCm39) S180P probably benign Het
Lepr G A 4: 101,631,454 (GRCm39) E655K possibly damaging Het
Mro T A 18: 74,005,104 (GRCm39) L69Q probably damaging Het
Nipbl A T 15: 8,381,049 (GRCm39) L581H probably benign Het
Nkiras2 C T 11: 100,515,861 (GRCm39) R63W probably damaging Het
Nlrp4e T A 7: 23,020,058 (GRCm39) S182T possibly damaging Het
Obi1 T C 14: 104,717,662 (GRCm39) K237R possibly damaging Het
Or52b4i A T 7: 102,191,895 (GRCm39) I251F probably benign Het
Otud4 T C 8: 80,395,126 (GRCm39) S553P probably benign Het
Pcdha4 T C 18: 37,086,786 (GRCm39) I323T probably benign Het
Polr1b G T 2: 128,965,181 (GRCm39) A756S probably damaging Het
Prex2 A T 1: 11,252,255 (GRCm39) Y1100F probably damaging Het
Serpinb6a A T 13: 34,102,242 (GRCm39) S328T probably damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Stxbp5 T C 10: 9,774,998 (GRCm39) T52A probably damaging Het
Unc13b A G 4: 43,176,966 (GRCm39) probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vps51 T C 19: 6,120,947 (GRCm39) Y322C possibly damaging Het
Zfp735 G A 11: 73,581,140 (GRCm39) C59Y possibly damaging Het
Zfp759 A G 13: 67,287,162 (GRCm39) probably null 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
R4615:Taf3 UTSW 2 9,956,901 (GRCm39) missense probably damaging 1.00
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
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'- GTGAAAATGACACCCAGCTTAC -3'
(R):5'- ATGCTGCGAAAGTGCGATTG -3'

Sequencing Primer
(F):5'- ATGACACCCAGCTTACCTTCTCATG -3'
(R):5'- TGCGATTGAAAGATGGGATCGTG -3'
Posted On 2018-05-24