Incidental Mutation 'R6292:Taf4'
ID 508486
Institutional Source Beutler Lab
Gene Symbol Taf4
Ensembl Gene ENSMUSG00000039117
Gene Name TATA-box binding protein associated factor 4
Synonyms Taf4a, Taf2c1, TAFII130, TAFII135
MMRRC Submission 044461-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6292 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 179912152-179976646 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179923987 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 872 (S872P)
Ref Sequence ENSEMBL: ENSMUSP00000153863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041618] [ENSMUST00000227325]
AlphaFold E9QAP7
Predicted Effect possibly damaging
Transcript: ENSMUST00000041618
AA Change: S884P

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: S884P

low complexity region 28 44 N/A INTRINSIC
low complexity region 64 181 N/A INTRINSIC
SCOP:d1hqva_ 312 325 6e-3 SMART
low complexity region 339 371 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
low complexity region 428 443 N/A INTRINSIC
low complexity region 445 458 N/A INTRINSIC
internal_repeat_1 465 500 2.85e-5 PROSPERO
low complexity region 537 547 N/A INTRINSIC
TAFH 550 642 4.9e-54 SMART
internal_repeat_1 692 727 2.85e-5 PROSPERO
low complexity region 767 773 N/A INTRINSIC
Pfam:TAF4 791 1039 3.5e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154961
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155335
Predicted Effect probably damaging
Transcript: ENSMUST00000227325
AA Change: S872P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.3677 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for deletions of this marker die embryonically sometime around E9.5. Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,200,251 (GRCm38) V709E probably damaging Het
Ankrd33b C T 15: 31,325,085 (GRCm38) probably null Het
Apaf1 T C 10: 90,991,563 (GRCm38) T1202A possibly damaging Het
Apip G T 2: 103,092,467 (GRCm38) C210F probably benign Het
Chd9 A T 8: 90,932,922 (GRCm38) H170L probably benign Het
Clec16a T C 16: 10,560,151 (GRCm38) probably null Het
Ep300 T A 15: 81,616,734 (GRCm38) probably benign Het
Etl4 C T 2: 20,743,573 (GRCm38) H39Y probably damaging Het
Gdap1l1 A T 2: 163,451,507 (GRCm38) I218F probably damaging Het
Gm5141 A T 13: 62,774,438 (GRCm38) C306S probably damaging Het
Gm9961 C T 16: 11,930,472 (GRCm38) noncoding transcript Het
Gpr27 C T 6: 99,693,658 (GRCm38) S327L possibly damaging Het
Hectd3 A C 4: 116,998,808 (GRCm38) T435P probably damaging Het
Hs3st1 T A 5: 39,614,790 (GRCm38) Q170L possibly damaging Het
Hykk T C 9: 54,920,826 (GRCm38) probably null Het
Lilra5 T C 7: 4,238,339 (GRCm38) S92P possibly damaging Het
Lrig1 A T 6: 94,616,445 (GRCm38) N418K probably damaging Het
Miga1 A G 3: 152,317,719 (GRCm38) F232L probably benign Het
Mkrn2 T A 6: 115,613,334 (GRCm38) M217K probably damaging Het
Myh7b A T 2: 155,632,396 (GRCm38) Q1677L probably damaging Het
N4bp1 T C 8: 86,853,239 (GRCm38) E645G probably damaging Het
Nckap5 T C 1: 125,915,015 (GRCm38) K1752E probably damaging Het
Nek1 A G 8: 61,054,736 (GRCm38) probably null Het
Ntng1 T C 3: 110,143,886 (GRCm38) probably benign Het
Nup133 A G 8: 123,917,437 (GRCm38) V730A probably benign Het
Olfr314 T A 11: 58,786,237 (GRCm38) M1K probably null Het
Olfr620 T A 7: 103,612,179 (GRCm38) H58L probably damaging Het
Paqr6 C T 3: 88,367,898 (GRCm38) P213S probably damaging Het
Pign A T 1: 105,585,077 (GRCm38) V627D possibly damaging Het
Rasal1 T A 5: 120,659,620 (GRCm38) V139E probably damaging Het
Scgb1b24 G T 7: 33,744,152 (GRCm38) A79S possibly damaging Het
Slc25a28 T C 19: 43,664,592 (GRCm38) D210G probably benign Het
Slc38a3 A T 9: 107,655,154 (GRCm38) I393N possibly damaging Het
Slc41a2 T C 10: 83,254,926 (GRCm38) N465D probably damaging Het
Slc5a5 G A 8: 70,891,178 (GRCm38) T160I probably damaging Het
Smarca2 C T 19: 26,630,892 (GRCm38) A117V probably damaging Het
Sorcs2 C T 5: 36,062,587 (GRCm38) R371H probably damaging Het
Tdrd3 G T 14: 87,506,254 (GRCm38) C540F probably benign Het
Thumpd1 A T 7: 119,720,674 (GRCm38) L23Q probably benign Het
Top1 A T 2: 160,698,141 (GRCm38) Y213F probably benign Het
Txndc5 T C 13: 38,528,184 (GRCm38) probably null Het
Unc79 C A 12: 103,142,732 (GRCm38) A2005D possibly damaging Het
Upb1 T C 10: 75,438,171 (GRCm38) L344P probably damaging Het
Vmn1r72 T A 7: 11,669,652 (GRCm38) S290C probably benign Het
Vmn2r103 A G 17: 19,793,604 (GRCm38) I219M possibly damaging Het
Wapl A G 14: 34,729,195 (GRCm38) T729A probably damaging Het
Washc5 C T 15: 59,355,934 (GRCm38) R393H probably damaging Het
Other mutations in Taf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Taf4 APN 2 179,976,625 (GRCm38) missense unknown
IGL00517:Taf4 APN 2 179,924,413 (GRCm38) splice site probably benign
IGL02159:Taf4 APN 2 179,938,470 (GRCm38) missense probably benign 0.24
IGL02254:Taf4 APN 2 179,921,184 (GRCm38) missense probably benign 0.25
IGL03366:Taf4 APN 2 179,935,054 (GRCm38) missense probably damaging 1.00
R0049:Taf4 UTSW 2 179,924,091 (GRCm38) missense probably damaging 0.98
R0049:Taf4 UTSW 2 179,924,091 (GRCm38) missense probably damaging 0.98
R1267:Taf4 UTSW 2 179,929,324 (GRCm38) missense possibly damaging 0.46
R1495:Taf4 UTSW 2 179,933,027 (GRCm38) missense probably damaging 1.00
R1560:Taf4 UTSW 2 179,935,953 (GRCm38) missense probably benign 0.14
R1756:Taf4 UTSW 2 179,976,531 (GRCm38) missense unknown
R1893:Taf4 UTSW 2 179,933,030 (GRCm38) missense probably damaging 0.98
R1932:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R2213:Taf4 UTSW 2 179,935,890 (GRCm38) critical splice donor site probably null
R3896:Taf4 UTSW 2 179,932,014 (GRCm38) missense probably benign 0.45
R4050:Taf4 UTSW 2 179,932,012 (GRCm38) missense probably damaging 1.00
R4448:Taf4 UTSW 2 179,935,971 (GRCm38) missense possibly damaging 0.65
R4736:Taf4 UTSW 2 179,924,494 (GRCm38) missense probably damaging 1.00
R5124:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R6155:Taf4 UTSW 2 179,913,524 (GRCm38) missense probably damaging 1.00
R6238:Taf4 UTSW 2 179,932,039 (GRCm38) missense probably damaging 0.97
R7749:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7751:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7752:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7754:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7835:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7879:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7880:Taf4 UTSW 2 179,935,933 (GRCm38) nonsense probably null
R7880:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7883:Taf4 UTSW 2 179,929,295 (GRCm38) missense probably damaging 1.00
R7899:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7902:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7905:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R9743:Taf4 UTSW 2 179,939,799 (GRCm38) missense possibly damaging 0.79
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-03-15