Incidental Mutation 'R5536:Taf8'
ID 434848
Institutional Source Beutler Lab
Gene Symbol Taf8
Ensembl Gene ENSMUSG00000023980
Gene Name TATA-box binding protein associated factor 8
Synonyms Taf8, Tbn
MMRRC Submission 043094-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5536 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 47794289-47813216 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 47805407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 164 (R164L)
Ref Sequence ENSEMBL: ENSMUSP00000063201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067103]
AlphaFold Q9EQH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000067103
AA Change: R164L

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063201
Gene: ENSMUSG00000023980
AA Change: R164L

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.0%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G T 3: 137,772,149 (GRCm39) G446V possibly damaging Het
Aadac T G 3: 59,946,984 (GRCm39) N227K probably benign Het
Acap1 C T 11: 69,780,133 (GRCm39) G74R probably benign Het
Adrm1 A G 2: 179,813,981 (GRCm39) probably benign Het
Appl1 G C 14: 26,645,737 (GRCm39) S691* probably null Het
Atp2a2 T C 5: 122,595,245 (GRCm39) D1035G probably benign Het
AW551984 A G 9: 39,504,169 (GRCm39) I599T probably benign Het
Col23a1 C A 11: 51,458,776 (GRCm39) D304E probably damaging Het
Csmd1 T C 8: 16,338,674 (GRCm39) R478G probably damaging Het
Dnah7a T C 1: 53,464,412 (GRCm39) N3660D probably benign Het
Drosha T A 15: 12,929,797 (GRCm39) Y1331N possibly damaging Het
E2f6 T G 12: 16,874,685 (GRCm39) S256A probably benign Het
Evc A G 5: 37,483,927 (GRCm39) probably benign Het
Fsip2 A T 2: 82,817,403 (GRCm39) I4379F probably benign Het
Galnt2 T C 8: 125,050,412 (GRCm39) C91R probably damaging Het
Gm3095 G T 14: 15,170,371 (GRCm39) M73I probably benign Het
Gpr179 T A 11: 97,234,641 (GRCm39) Q480L probably damaging Het
Gucy2g T A 19: 55,226,359 (GRCm39) I186F probably benign Het
Hmcn1 T A 1: 150,631,042 (GRCm39) I919F probably benign Het
Kdm3a A C 6: 71,588,920 (GRCm39) V363G probably benign Het
Kmt2d G A 15: 98,749,990 (GRCm39) probably benign Het
Lama5 C T 2: 179,831,142 (GRCm39) R1839H probably damaging Het
Lpo T C 11: 87,707,389 (GRCm39) D208G probably damaging Het
Lpp A G 16: 24,663,956 (GRCm39) D411G possibly damaging Het
Marco T C 1: 120,432,464 (GRCm39) S8G possibly damaging Het
Mthfr T C 4: 148,128,940 (GRCm39) F171S probably damaging Het
Nlrx1 A T 9: 44,175,183 (GRCm39) S198T probably damaging Het
Nol10 C A 12: 17,466,138 (GRCm39) S511* probably null Het
Nup153 T C 13: 46,836,485 (GRCm39) T1375A probably benign Het
Obscn A G 11: 58,998,697 (GRCm39) S1367P probably damaging Het
Or4x6 A G 2: 89,949,183 (GRCm39) V253A probably benign Het
Pcdha7 G A 18: 37,108,303 (GRCm39) V443M probably damaging Het
Plekha1 G T 7: 130,511,331 (GRCm39) R305I probably damaging Het
Psmb2 T A 4: 126,578,002 (GRCm39) I60N probably damaging Het
Rad17 C A 13: 100,767,612 (GRCm39) G330C probably damaging Het
Slc5a6 A G 5: 31,200,446 (GRCm39) S80P probably damaging Het
Srgap2 T A 1: 131,228,128 (GRCm39) probably null Het
Tmem87a C A 2: 120,227,911 (GRCm39) D79Y probably damaging Het
Tmtc4 G A 14: 123,170,291 (GRCm39) R574W probably benign Het
Tprn G A 2: 25,153,369 (GRCm39) A224T probably benign Het
Usf3 A G 16: 44,037,733 (GRCm39) T738A probably benign Het
Vmn2r54 A C 7: 12,366,343 (GRCm39) V197G probably benign Het
Zbtb40 G T 4: 136,714,642 (GRCm39) P1049Q probably damaging Het
Zfp551 A T 7: 12,149,488 (GRCm39) S640R possibly damaging Het
Zfp932 T A 5: 110,157,713 (GRCm39) C470* probably null Het
Zkscan8 T C 13: 21,710,838 (GRCm39) I91V probably damaging Het
Zmat4 T C 8: 24,238,508 (GRCm39) V30A probably damaging 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
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
R9679:Taf8 UTSW 17 47,801,101 (GRCm39) missense unknown
X0065:Taf8 UTSW 17 47,812,321 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TCTCCACACCTCACTGAGAG -3'
(R):5'- TGGAAGCCAAGCATAGACAC -3'

Sequencing Primer
(F):5'- CAAGGAAAGACGGTGTGATTATCTC -3'
(R):5'- AGCATAGACACAGTCAACTATGTAG -3'
Posted On 2016-10-24