Incidental Mutation 'R0008:Taf5'
ID 7926
Institutional Source Beutler Lab
Gene Symbol Taf5
Ensembl Gene ENSMUSG00000025049
Gene Name TATA-box binding protein associated factor 5
Synonyms 6330528C20Rik
MMRRC Submission 038303-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R0008 (G1)
Quality Score
Status Validated
Chromosome 19
Chromosomal Location 47056187-47071918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47064301 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 415 (S415G)
Ref Sequence ENSEMBL: ENSMUSP00000026027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026027]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000026027
AA Change: S415G

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026027
Gene: ENSMUSG00000025049
AA Change: S415G

DomainStartEndE-ValueType
low complexity region 15 26 N/A INTRINSIC
low complexity region 29 92 N/A INTRINSIC
LisH 93 125 6.52e-2 SMART
low complexity region 132 150 N/A INTRINSIC
Pfam:TFIID_NTD2 206 338 4.5e-55 PFAM
low complexity region 389 417 N/A INTRINSIC
WD40 460 499 8.36e-2 SMART
WD40 533 572 1.82e-11 SMART
WD40 575 614 1.19e-6 SMART
WD40 617 656 9.08e-12 SMART
WD40 659 698 1.4e-12 SMART
WD40 701 740 2.57e-11 SMART
Meta Mutation Damage Score 0.0712 question?
Coding Region Coverage
  • 1x: 81.0%
  • 3x: 72.4%
  • 10x: 49.2%
  • 20x: 28.4%
Validation Efficiency 90% (82/91)
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 an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik T C 3: 137,882,346 (GRCm39) K118R possibly damaging Het
Afap1l1 A G 18: 61,889,976 (GRCm39) S87P probably benign Het
Ankrd27 A G 7: 35,303,125 (GRCm39) K196R probably benign Het
Arrdc3 T A 13: 81,039,194 (GRCm39) I75N probably damaging Het
Calcrl T C 2: 84,203,618 (GRCm39) D54G probably benign Het
Cnot1 G T 8: 96,487,969 (GRCm39) D562E probably damaging Het
Cp T A 3: 20,022,287 (GRCm39) Y230N probably damaging Het
Dclre1c T C 2: 3,439,032 (GRCm39) V64A probably damaging Het
Fat2 A T 11: 55,202,075 (GRCm39) L333H probably damaging Het
Hoxc11 T C 15: 102,863,397 (GRCm39) V146A probably damaging Het
Il11 T C 7: 4,776,658 (GRCm39) S111G probably benign Het
Ist1 A T 8: 110,403,418 (GRCm39) I273K probably benign Het
Lrp2 T A 2: 69,346,895 (GRCm39) N784Y probably benign Het
Lrp6 T C 6: 134,462,716 (GRCm39) E648G probably damaging Het
Mtbp T A 15: 55,449,889 (GRCm39) probably benign Het
Nat9 A T 11: 115,075,941 (GRCm39) Y27N probably damaging Het
Nipsnap3b T A 4: 53,015,112 (GRCm39) L53Q probably damaging Het
Nlrp3 A T 11: 59,449,274 (GRCm39) H852L probably benign Het
Pax9 A G 12: 56,756,528 (GRCm39) T289A probably benign Het
Pcyt2 A T 11: 120,506,695 (GRCm39) I53N possibly damaging Het
Pdzph1 T A 17: 59,229,756 (GRCm39) probably benign Het
Plekhm2 C T 4: 141,369,704 (GRCm39) probably benign Het
Ppt1 T C 4: 122,742,216 (GRCm39) probably benign Het
Prep T C 10: 44,991,174 (GRCm39) V280A probably benign Het
Proser3 G A 7: 30,239,563 (GRCm39) R514C probably damaging Het
Rbm45 T C 2: 76,208,742 (GRCm39) Y293H probably damaging Het
Sdk2 A G 11: 113,747,581 (GRCm39) L643P probably damaging Het
Slc1a1 G A 19: 28,878,884 (GRCm39) G208S probably benign Het
Slc35b4 A T 6: 34,135,452 (GRCm39) Y287N probably damaging Het
Srgap2 T C 1: 131,283,302 (GRCm39) T260A probably damaging Het
Tdp2 T G 13: 25,025,333 (GRCm39) probably null Het
Tnrc6a G A 7: 122,769,617 (GRCm39) R469H probably benign Het
Tox T A 4: 6,842,411 (GRCm39) M40L probably benign Het
Trib2 A T 12: 15,859,930 (GRCm39) H110Q probably benign Het
Trpa1 A G 1: 14,973,439 (GRCm39) I293T possibly damaging Het
Wdr93 A G 7: 79,408,221 (GRCm39) E234G probably damaging Het
Zfp385b A T 2: 77,246,291 (GRCm39) S245R probably benign Het
Zfyve9 T A 4: 108,575,902 (GRCm39) E393V possibly damaging Het
Other mutations in Taf5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Taf5 APN 19 47,070,740 (GRCm39) missense probably damaging 1.00
IGL01115:Taf5 APN 19 47,063,521 (GRCm39) missense probably benign 0.01
IGL02168:Taf5 APN 19 47,070,917 (GRCm39) missense probably damaging 0.98
IGL02638:Taf5 APN 19 47,056,649 (GRCm39) missense probably benign 0.00
IGL02689:Taf5 APN 19 47,065,704 (GRCm39) splice site probably benign
R0008:Taf5 UTSW 19 47,064,301 (GRCm39) missense possibly damaging 0.94
R0220:Taf5 UTSW 19 47,068,999 (GRCm39) missense probably damaging 1.00
R0685:Taf5 UTSW 19 47,063,293 (GRCm39) missense probably benign 0.10
R1518:Taf5 UTSW 19 47,070,285 (GRCm39) missense probably damaging 1.00
R2329:Taf5 UTSW 19 47,063,563 (GRCm39) missense probably benign 0.07
R3431:Taf5 UTSW 19 47,064,272 (GRCm39) missense probably damaging 1.00
R3432:Taf5 UTSW 19 47,064,272 (GRCm39) missense probably damaging 1.00
R3689:Taf5 UTSW 19 47,067,224 (GRCm39) missense probably damaging 0.99
R4411:Taf5 UTSW 19 47,059,453 (GRCm39) missense probably damaging 1.00
R4413:Taf5 UTSW 19 47,059,453 (GRCm39) missense probably damaging 1.00
R4676:Taf5 UTSW 19 47,063,409 (GRCm39) missense probably damaging 1.00
R5370:Taf5 UTSW 19 47,064,203 (GRCm39) missense probably damaging 0.99
R5875:Taf5 UTSW 19 47,064,549 (GRCm39) missense probably damaging 1.00
R5883:Taf5 UTSW 19 47,056,228 (GRCm39) missense unknown
R5937:Taf5 UTSW 19 47,070,334 (GRCm39) missense probably damaging 1.00
R6835:Taf5 UTSW 19 47,065,776 (GRCm39) missense possibly damaging 0.94
R7007:Taf5 UTSW 19 47,059,650 (GRCm39) missense probably damaging 1.00
R8198:Taf5 UTSW 19 47,064,212 (GRCm39) missense probably damaging 0.97
R9151:Taf5 UTSW 19 47,063,370 (GRCm39) missense probably damaging 0.98
R9500:Taf5 UTSW 19 47,065,771 (GRCm39) missense probably damaging 1.00
R9762:Taf5 UTSW 19 47,059,434 (GRCm39) missense probably damaging 0.96
Posted On 2012-11-20