Incidental Mutation 'R9679:Taf8'
ID 728443
Institutional Source Beutler Lab
Gene Symbol Taf8
Ensembl Gene ENSMUSG00000023980
Gene Name TATA-box binding protein associated factor 8
Synonyms Taf8, Tbn
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9679 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 47794289-47813216 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47801101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 294 (R294Q)
Ref Sequence ENSEMBL: ENSMUSP00000063201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067103]
AlphaFold Q9EQH4
Predicted Effect unknown
Transcript: ENSMUST00000067103
AA Change: R294Q
SMART Domains Protein: ENSMUSP00000063201
Gene: ENSMUSG00000023980
AA Change: R294Q

DomainStartEndE-ValueType
BTP 27 104 1.76e-32 SMART
Pfam:TAF8_C 143 191 8.1e-24 PFAM
low complexity region 236 250 N/A INTRINSIC
low complexity region 267 286 N/A INTRINSIC
low complexity region 294 305 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a gene trap mutation die at E4.0 and exhibit apoptosis of inner mass cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6a T A 12: 113,509,542 (GRCm39) N638K probably benign Het
Arid5a A G 1: 36,357,648 (GRCm39) K188E possibly damaging Het
Atp11a T C 8: 12,909,388 (GRCm39) I1082T possibly damaging Het
Bdp1 T A 13: 100,180,285 (GRCm39) I1845F probably damaging Het
Ccdc87 A C 19: 4,891,299 (GRCm39) E597A probably benign Het
Cfap53 A T 18: 74,492,656 (GRCm39) Q460L possibly damaging Het
Clcn1 G A 6: 42,263,753 (GRCm39) S18N probably damaging Het
Cntnap3 C A 13: 64,899,562 (GRCm39) C977F probably damaging Het
Colec11 C A 12: 28,644,829 (GRCm39) V222L probably benign Het
Dchs2 G T 3: 83,261,697 (GRCm39) S2655I probably damaging Het
Dnah8 A G 17: 31,037,115 (GRCm39) T4227A probably benign Het
Dock5 G A 14: 68,018,450 (GRCm39) R1242W probably damaging Het
Ebf3 T A 7: 136,832,964 (GRCm39) N237I possibly damaging Het
F2rl3 T A 8: 73,489,661 (GRCm39) L296Q probably damaging Het
Fbn2 A G 18: 58,201,433 (GRCm39) I1328T probably damaging Het
Fes T C 7: 80,033,050 (GRCm39) E258G probably benign Het
Gins4 G A 8: 23,717,132 (GRCm39) A212V probably damaging Het
Il15 T C 8: 83,071,094 (GRCm39) Y7C probably benign Het
Il9r T G 11: 32,140,853 (GRCm39) H395P probably benign Het
Jade1 T C 3: 41,567,569 (GRCm39) S546P probably damaging Het
Krt72 C T 15: 101,685,152 (GRCm39) G469D probably damaging Het
Limd1 T A 9: 123,308,457 (GRCm39) M52K probably damaging Het
Mamdc2 T C 19: 23,351,380 (GRCm39) N182S probably benign Het
Mrpl14 A G 17: 46,009,240 (GRCm39) N113S probably damaging Het
Ms4a14 A G 19: 11,280,048 (GRCm39) S837P possibly damaging Het
Mtrex A G 13: 113,032,055 (GRCm39) S586P probably damaging Het
Muc21 A G 17: 35,930,491 (GRCm39) S1232P unknown Het
Myh11 A T 16: 14,095,436 (GRCm39) Y109N Het
Nfrkb C T 9: 31,321,385 (GRCm39) T694M probably benign Het
Nlrp4b T G 7: 10,449,184 (GRCm39) S462R probably benign Het
Or4k37 A G 2: 111,159,345 (GRCm39) T194A probably benign Het
Or52e2 T C 7: 102,804,652 (GRCm39) I101V probably benign Het
Or5g9 T A 2: 85,552,482 (GRCm39) H244Q probably damaging Het
Or5h19 A G 16: 58,856,521 (GRCm39) L193P possibly damaging Het
Or6c76 A G 10: 129,611,882 (GRCm39) Y33C probably damaging Het
Rasip1 T C 7: 45,277,327 (GRCm39) V45A possibly damaging Het
Rgs22 A G 15: 36,087,587 (GRCm39) S568P probably benign Het
Sephs1 T A 2: 4,898,105 (GRCm39) L172Q probably damaging Het
Slc16a3 T C 11: 120,847,223 (GRCm39) L137P probably damaging Het
Slc22a4 T C 11: 53,881,599 (GRCm39) Y373C probably damaging Het
Snx1 T C 9: 65,998,002 (GRCm39) D410G probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Stam2 G T 2: 52,606,582 (GRCm39) A101D probably damaging Het
Surf4 A G 2: 26,814,364 (GRCm39) F179S probably benign Het
Tnr A G 1: 159,719,608 (GRCm39) T962A probably benign Het
Tpx2 T A 2: 152,711,618 (GRCm39) I51K possibly damaging Het
Traf7 CA CAA 17: 24,746,737 (GRCm39) probably benign Het
Usp34 T A 11: 23,394,369 (GRCm39) Y2305N Het
Vil1 C A 1: 74,469,833 (GRCm39) Q740K probably benign Het
Vmn1r236 T C 17: 21,507,286 (GRCm39) F135L possibly damaging Het
Vmn1r57 A C 7: 5,224,230 (GRCm39) I252L probably benign Het
Vmn2r77 T C 7: 86,460,741 (GRCm39) L689P probably benign Het
Wdr1 A G 5: 38,685,216 (GRCm39) L585P probably damaging Het
Wdr6 T C 9: 108,450,358 (GRCm39) I1057V probably benign Het
Other mutations in Taf8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02179:Taf8 APN 17 47,813,158 (GRCm39) missense probably benign 0.10
IGL02862:Taf8 APN 17 47,805,339 (GRCm39) missense probably damaging 1.00
IGL03068:Taf8 APN 17 47,812,290 (GRCm39) missense probably damaging 1.00
IGL03197:Taf8 APN 17 47,809,127 (GRCm39) missense probably benign 0.05
R0153:Taf8 UTSW 17 47,809,177 (GRCm39) splice site probably benign
R0344:Taf8 UTSW 17 47,804,505 (GRCm39) missense probably benign 0.03
R1782:Taf8 UTSW 17 47,809,136 (GRCm39) missense probably benign 0.13
R2046:Taf8 UTSW 17 47,801,201 (GRCm39) missense probably benign
R5536:Taf8 UTSW 17 47,805,407 (GRCm39) missense possibly damaging 0.89
R5956:Taf8 UTSW 17 47,809,467 (GRCm39) missense probably damaging 1.00
R9016:Taf8 UTSW 17 47,807,527 (GRCm39) missense probably damaging 1.00
X0065:Taf8 UTSW 17 47,812,321 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AAGAACCACAGAGGCTGCTG -3'
(R):5'- AGGCAGATATGGCAGCACTG -3'

Sequencing Primer
(F):5'- CTACAGCTGGCAGGACACAG -3'
(R):5'- ACCAGAGTGGCTCTTGTCC -3'
Posted On 2022-10-06