Incidental Mutation 'R8198:Taf5'
ID 635569
Institutional Source Beutler Lab
Gene Symbol Taf5
Ensembl Gene ENSMUSG00000025049
Gene Name TATA-box binding protein associated factor 5
Synonyms 6330528C20Rik
MMRRC Submission 067621-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.969) question?
Stock # R8198 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 47056187-47071918 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 47064212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 385 (V385E)
Ref Sequence ENSEMBL: ENSMUSP00000026027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026027]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000026027
AA Change: V385E

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026027
Gene: ENSMUSG00000025049
AA Change: V385E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency 100% (47/47)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700024B05Rik T C 14: 41,825,017 (GRCm39) *168R probably null Het
Adgrb1 C A 15: 74,411,094 (GRCm39) T330K probably damaging Het
Ankrd27 T C 7: 35,307,880 (GRCm39) V373A probably benign Het
Aoah C T 13: 21,101,290 (GRCm39) P270L probably damaging Het
AU041133 C G 10: 81,987,249 (GRCm39) P301A probably damaging Het
Aven C T 2: 112,390,120 (GRCm39) R8W probably benign Het
Cd2bp2 A G 7: 126,793,576 (GRCm39) S204P possibly damaging Het
Clca4b C A 3: 144,638,167 (GRCm39) G32C probably damaging Het
Clcn2 A G 16: 20,525,946 (GRCm39) V808A probably damaging Het
Clec4d T C 6: 123,244,965 (GRCm39) C82R probably damaging Het
Dennd1c T C 17: 57,373,460 (GRCm39) D671G possibly damaging Het
Eml5 G A 12: 98,825,145 (GRCm39) R691* probably null Het
Fcnb C T 2: 27,968,330 (GRCm39) S209N possibly damaging Het
Gm4922 T C 10: 18,659,340 (GRCm39) T461A probably benign Het
Gm9964 A G 11: 79,187,405 (GRCm39) V14A unknown Het
Gnb3 T C 6: 124,814,000 (GRCm39) Y196C probably benign Het
H4c2 C G 13: 23,941,283 (GRCm39) Q94E possibly damaging Het
Hps1 C T 19: 42,755,659 (GRCm39) R189Q probably benign Het
Iars2 G A 1: 185,029,703 (GRCm39) T638I probably benign Het
Itpripl2 A G 7: 118,089,819 (GRCm39) S247P probably damaging Het
Leng8 C A 7: 4,147,170 (GRCm39) R523S possibly damaging Het
Lhfpl3 T A 5: 23,478,333 (GRCm39) V72D probably benign Het
Lmntd2 A T 7: 140,791,134 (GRCm39) M426K possibly damaging Het
Lsg1 A T 16: 30,383,594 (GRCm39) V542E probably benign Het
Mphosph6 C T 8: 118,519,449 (GRCm39) V108I probably benign Het
Mta2 A G 19: 8,925,145 (GRCm39) T338A probably benign Het
Ncoa7 T C 10: 30,580,664 (GRCm39) N98S probably benign Het
Or52h7 T A 7: 104,214,140 (GRCm39) D237E probably benign Het
Or7a36 C A 10: 78,820,443 (GRCm39) T273K probably benign Het
Or7a42 T A 10: 78,791,558 (GRCm39) V173E probably damaging Het
Pgr T C 9: 8,958,411 (GRCm39) V806A possibly damaging Het
Rad54b T C 4: 11,612,440 (GRCm39) probably null Het
Sdad1 A T 5: 92,439,811 (GRCm39) C405S probably damaging Het
Semp2l2a T A 8: 13,887,056 (GRCm39) Y345F probably benign Het
Shoc1 T C 4: 59,065,174 (GRCm39) I814V probably benign Het
Smg1 T C 7: 117,744,829 (GRCm39) I3108V probably benign Het
Spink5 A T 18: 44,125,947 (GRCm39) I409F probably benign Het
Syt13 C A 2: 92,783,899 (GRCm39) L390M probably damaging Het
Tdrd9 T A 12: 112,006,863 (GRCm39) V909E probably damaging Het
Tex9 G A 9: 72,387,940 (GRCm39) probably benign Het
Timm10b G T 7: 105,327,537 (GRCm39) E61* probably null Het
Tmprss11g A T 5: 86,646,352 (GRCm39) F72I probably benign Het
Trank1 T C 9: 111,219,880 (GRCm39) C2206R probably benign Het
Uba52rt C A 4: 3,973,346 (GRCm39) R72L probably benign Het
Unc45b GC G 11: 82,816,814 (GRCm39) probably null Het
Unc93b1 T C 19: 3,991,910 (GRCm39) S215P possibly damaging Het
Usp48 C T 4: 137,348,470 (GRCm39) probably benign Het
Vmn1r81 A G 7: 11,993,882 (GRCm39) V242A possibly damaging Het
Zgrf1 T A 3: 127,389,673 (GRCm39) probably null 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
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
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'- ACACAACAAAAGGCGTGCTG -3'
(R):5'- CAACCCTCTGTGACATAGCTTC -3'

Sequencing Primer
(F):5'- CGTGCTGAGTCTCTAAAACCAGG -3'
(R):5'- GACATAGCTTCCACCTTTATGTACG -3'
Posted On 2020-07-13