Incidental Mutation 'R5883:Taf5'
ID 501941
Institutional Source Beutler Lab
Gene Symbol Taf5
Ensembl Gene ENSMUSG00000025049
Gene Name TATA-box binding protein associated factor 5
Synonyms 6330528C20Rik
MMRRC Submission 044086-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R5883 (G1)
Quality Score 60
Status Validated
Chromosome 19
Chromosomal Location 47056187-47071918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47056228 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 9 (T9A)
Ref Sequence ENSEMBL: ENSMUSP00000026027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026027]
AlphaFold no structure available at present
Predicted Effect unknown
Transcript: ENSMUST00000026027
AA Change: T9A
SMART Domains Protein: ENSMUSP00000026027
Gene: ENSMUSG00000025049
AA Change: T9A

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 0.0603 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 95.9%
  • 20x: 83.7%
Validation Efficiency 100% (70/70)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik G A 8: 120,872,380 (GRCm39) V103I possibly damaging Het
Aass G A 6: 23,072,993 (GRCm39) T920I probably benign Het
Akirin2 A G 4: 34,565,256 (GRCm39) I168V possibly damaging Het
Ambn T A 5: 88,615,688 (GRCm39) Y372* probably null Het
Ano3 T A 2: 110,711,209 (GRCm39) E85V probably null Het
Bmf C T 2: 118,377,447 (GRCm39) silent Het
Bmper T A 9: 23,317,970 (GRCm39) S530T probably benign Het
Bop1 T C 15: 76,339,049 (GRCm39) D383G probably damaging Het
Bub1b T A 2: 118,440,363 (GRCm39) Y156N probably damaging Het
Cacna1h A G 17: 25,595,896 (GRCm39) V1987A probably benign Het
Cd84 T C 1: 171,700,405 (GRCm39) V174A possibly damaging Het
Cep290 T A 10: 100,359,261 (GRCm39) L997Q probably benign Het
Chil4 C T 3: 106,117,886 (GRCm39) R128H possibly damaging Het
Cpne3 A T 4: 19,552,314 (GRCm39) V106D possibly damaging Het
D6Wsu163e A G 6: 126,943,879 (GRCm39) E425G probably damaging Het
Dlgap1 A T 17: 70,824,008 (GRCm39) probably benign Het
Dnhd1 C A 7: 105,369,711 (GRCm39) H4379N probably damaging Het
Gm10309 A G 17: 86,806,185 (GRCm39) probably benign Het
Gm6264 G A 1: 85,148,903 (GRCm39) probably benign Het
Has2 T A 15: 56,531,459 (GRCm39) I419F possibly damaging Het
Hscb A G 5: 110,987,444 (GRCm39) C51R probably benign Het
Ighv1-61 T C 12: 115,323,183 (GRCm39) S4G probably benign Het
Islr2 G T 9: 58,105,998 (GRCm39) Q465K probably benign Het
Jakmip2 T C 18: 43,715,059 (GRCm39) I156V possibly damaging Het
Klk1b24 A G 7: 43,839,787 (GRCm39) I49V probably benign Het
Krt90 C T 15: 101,461,654 (GRCm39) probably benign Het
Larp1 C T 11: 57,933,125 (GRCm39) S243F probably damaging Het
Lrp4 T C 2: 91,318,778 (GRCm39) Y872H probably benign Het
Maip1 T C 1: 57,446,260 (GRCm39) M110T probably damaging Het
Marchf7 G A 2: 60,064,786 (GRCm39) R354Q probably damaging Het
Med12l G T 3: 58,998,889 (GRCm39) E605D probably damaging Het
Nt5c1a T A 4: 123,110,049 (GRCm39) probably null Het
Or2j6 T A 7: 139,980,101 (GRCm39) Y286F probably damaging Het
Or5ac25 A T 16: 59,182,078 (GRCm39) C168S probably damaging Het
Or5p66 C T 7: 107,885,451 (GRCm39) S294N probably damaging Het
Pdzd9 T A 7: 120,267,776 (GRCm39) E13V possibly damaging Het
Ppip5k2 C T 1: 97,635,535 (GRCm39) A1100T possibly damaging Het
Prkdc C A 16: 15,533,778 (GRCm39) Q1539K probably benign Het
Rad54l C G 4: 115,956,243 (GRCm39) probably benign Het
Ric1 T A 19: 29,573,389 (GRCm39) I943N probably damaging Het
Rif1 T A 2: 51,995,651 (GRCm39) probably null Het
Rpl12 T C 2: 32,852,536 (GRCm39) probably benign Het
Ryr3 T C 2: 112,860,637 (GRCm39) probably benign Het
Scarb1 C A 5: 125,417,971 (GRCm39) probably benign Het
Sox10 T C 15: 79,040,463 (GRCm39) E359G probably damaging Het
Tmem128 C T 5: 38,423,885 (GRCm39) A33V possibly damaging Het
Tox A C 4: 6,697,444 (GRCm39) V453G probably benign Het
Ubxn4 T A 1: 128,183,867 (GRCm39) C76S probably damaging Het
Vmn2r100 A T 17: 19,743,786 (GRCm39) Y483F probably benign Het
Xkr5 A G 8: 18,990,806 (GRCm39) S154P probably damaging Het
Zfp687 T C 3: 94,919,355 (GRCm39) N139S probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- TCGCTCGGTTTTGAAAGTAGC -3'
(R):5'- AGAACACCGAGGTCACCGAG -3'

Sequencing Primer
(F):5'- AAAGTAGCTCTTTCTCGTGCC -3'
(R):5'- AATTGCAGCACGGCCAG -3'
Posted On 2018-01-10