Incidental Mutation 'R1167:Taf10'
ID 101132
Institutional Source Beutler Lab
Gene Symbol Taf10
Ensembl Gene ENSMUSG00000043866
Gene Name TATA-box binding protein associated factor 10
Synonyms 30kDa, Taf2h, TAFII30
MMRRC Submission 039240-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1167 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 105739393-105744361 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 105743231 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 188 (S188G)
Ref Sequence ENSEMBL: ENSMUSP00000118105 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033182] [ENSMUST00000033184] [ENSMUST00000136687] [ENSMUST00000141116] [ENSMUST00000149695] [ENSMUST00000163389]
AlphaFold Q8K0H5
Predicted Effect probably benign
Transcript: ENSMUST00000033182
SMART Domains Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890

ANK 33 62 4.71e-6 SMART
ANK 66 95 1.04e-7 SMART
ANK 99 128 1.02e-1 SMART
Pfam:Pkinase 193 445 1.5e-25 PFAM
Pfam:Pkinase_Tyr 193 446 7.2e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000033184
SMART Domains Protein: ENSMUSP00000033184
Gene: ENSMUSG00000030894

low complexity region 2 17 N/A INTRINSIC
Pro-kuma_activ 32 176 4.53e-50 SMART
low complexity region 177 189 N/A INTRINSIC
Pfam:Peptidase_S8 251 492 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000054556
Predicted Effect probably benign
Transcript: ENSMUST00000127298
Predicted Effect probably benign
Transcript: ENSMUST00000130565
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131683
Predicted Effect probably benign
Transcript: ENSMUST00000136687
SMART Domains Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890

ANK 33 62 4.71e-6 SMART
ANK 66 95 1.04e-7 SMART
ANK 99 128 1.02e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141116
AA Change: S188G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118105
Gene: ENSMUSG00000043866
AA Change: S188G

low complexity region 17 39 N/A INTRINSIC
low complexity region 45 91 N/A INTRINSIC
Pfam:TFIID_30kDa 128 177 6.1e-30 PFAM
low complexity region 181 192 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146999
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148971
Predicted Effect probably benign
Transcript: ENSMUST00000149695
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151108
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152508
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210018
Predicted Effect probably benign
Transcript: ENSMUST00000153557
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154626
Predicted Effect probably benign
Transcript: ENSMUST00000163389
SMART Domains Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890

ANK 33 62 4.71e-6 SMART
ANK 66 95 1.04e-7 SMART
ANK 99 128 1.02e-1 SMART
Pfam:Pkinase_Tyr 193 446 4e-39 PFAM
Pfam:Pkinase 195 445 3e-23 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
Validation Efficiency
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 one of the small subunits of TFIID that is associated with a subset of TFIID complexes. Studies with human and mammalian cells have shown that this subunit is required for transcriptional activation by the estrogen receptor, for progression through the cell cycle, and may also be required for certain cellular differentiation programs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die shortly after implantation. Embryos are developmentally retarded and disorganized, the inner cell mass is small and trophoblasts stop endocycling. Ablation in keratinocytes during fetal development, but not in adult keratinocytes, results in impaired skin barrier function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A T 7: 40,993,579 (GRCm38) D315V probably damaging Het
Acr T C 15: 89,573,974 (GRCm38) I286T probably damaging Het
Adnp A G 2: 168,184,500 (GRCm38) S292P probably benign Het
Apol6 T A 15: 77,047,108 (GRCm38) Y17* probably null Het
Arhgap22 A G 14: 33,343,307 (GRCm38) probably null Het
Bfar A G 16: 13,698,894 (GRCm38) K202E possibly damaging Het
Bmpr2 A T 1: 59,859,304 (GRCm38) S470C probably damaging Het
Cep135 A G 5: 76,624,637 (GRCm38) E623G probably damaging Het
Clcn3 A G 8: 60,922,788 (GRCm38) probably null Het
Clptm1 A T 7: 19,634,211 (GRCm38) M523K probably damaging Het
Cyp26b1 A G 6: 84,584,330 (GRCm38) W117R probably damaging Het
Dnmt3c T G 2: 153,711,781 (GRCm38) probably null Het
Dst A G 1: 34,223,858 (GRCm38) E2212G probably damaging Het
Edrf1 A G 7: 133,644,066 (GRCm38) T238A probably benign Het
Elmo1 T C 13: 20,185,455 (GRCm38) V10A probably damaging Het
Ermp1 A G 19: 29,628,679 (GRCm38) S225P possibly damaging Het
Fem1al C T 11: 29,823,567 (GRCm38) R630H probably damaging Het
Fes A T 7: 80,383,109 (GRCm38) L296Q probably damaging Het
Foxn1 A T 11: 78,359,066 (GRCm38) N544K probably damaging Het
Gga1 C G 15: 78,888,170 (GRCm38) N223K probably damaging Het
Gm4884 A T 7: 41,043,912 (GRCm38) Q435L possibly damaging Het
Gm8444 T C 15: 81,843,380 (GRCm38) probably benign Het
Ift140 T G 17: 25,035,745 (GRCm38) S131A probably benign Het
Ipo4 A G 14: 55,635,020 (GRCm38) L88P probably damaging Het
Itgal G A 7: 127,300,939 (GRCm38) S123N probably damaging Het
Kcnn3 C T 3: 89,564,952 (GRCm38) Q344* probably null Het
Lrrc8e A T 8: 4,235,337 (GRCm38) M521L probably benign Het
Myocd G T 11: 65,196,377 (GRCm38) D113E possibly damaging Het
Nek4 G A 14: 30,974,345 (GRCm38) R499H possibly damaging Het
Notch3 T C 17: 32,122,745 (GRCm38) D2011G possibly damaging Het
Ola1 A G 2: 73,097,194 (GRCm38) V347A probably damaging Het
Or13p5 C A 4: 118,734,632 (GRCm38) F34L possibly damaging Het
Or6c75 G A 10: 129,501,150 (GRCm38) V89I probably benign Het
Or8u10 A G 2: 86,085,291 (GRCm38) V162A probably benign Het
Oxct2b A G 4: 123,117,585 (GRCm38) T433A probably damaging Het
P2ry14 T C 3: 59,115,131 (GRCm38) R312G probably damaging Het
Pbrm1 A G 14: 31,050,142 (GRCm38) N398D probably damaging Het
Pdc T C 1: 150,333,245 (GRCm38) Y160H probably damaging Het
Pdlim2 C T 14: 70,164,779 (GRCm38) R296H probably damaging Het
Pop4 A T 7: 38,263,269 (GRCm38) D190E probably benign Het
Prb1c G A 6: 132,361,590 (GRCm38) P222S unknown Het
R3hdm4 A G 10: 79,912,073 (GRCm38) probably null Het
Rab1a C A 11: 20,223,172 (GRCm38) T91K possibly damaging Het
Rad9a A G 19: 4,197,502 (GRCm38) V215A possibly damaging Het
Rassf3 A G 10: 121,416,254 (GRCm38) V84A probably damaging Het
Rftn2 G A 1: 55,204,299 (GRCm38) T270M probably damaging Het
Rho A G 6: 115,935,423 (GRCm38) T100A probably damaging Het
Rnft2 T C 5: 118,228,882 (GRCm38) I264V possibly damaging Het
Robo3 A T 9: 37,423,907 (GRCm38) Y567* probably null Het
Rpp14 T A 14: 8,083,705 (GRCm38) probably null Het
Rtkn2 T C 10: 67,997,620 (GRCm38) S98P probably damaging Het
Ryr2 A G 13: 11,660,113 (GRCm38) V3376A possibly damaging Het
Sbf2 A T 7: 110,364,549 (GRCm38) W1030R probably damaging Het
Setbp1 G A 18: 78,857,236 (GRCm38) A1072V possibly damaging Het
Slc4a10 A G 2: 62,228,574 (GRCm38) K142E probably damaging Het
Slc52a2 A G 15: 76,539,591 (GRCm38) E40G probably benign Het
Slc8a2 A G 7: 16,157,387 (GRCm38) N784S possibly damaging Het
Spats2l A T 1: 57,943,111 (GRCm38) Q384L probably damaging Het
Steap4 A C 5: 7,976,520 (GRCm38) K161T probably benign Het
Tbc1d4 C T 14: 101,608,019 (GRCm38) D148N probably damaging Het
Tenm2 T G 11: 36,864,684 (GRCm38) K162N probably benign Het
Tmem147 A G 7: 30,727,796 (GRCm38) V146A probably benign Het
Tnfsf8 A G 4: 63,837,086 (GRCm38) S100P possibly damaging Het
Trim56 T C 5: 137,112,520 (GRCm38) Y714C probably damaging Het
Ubxn8 A G 8: 33,641,901 (GRCm38) S13P probably damaging Het
Usp49 A G 17: 47,672,226 (GRCm38) D52G possibly damaging Het
Vegfc A C 8: 54,186,043 (GRCm38) Y408S probably benign Het
Vmn2r77 A G 7: 86,801,746 (GRCm38) N280S probably benign Het
Vmn2r8 T A 5: 108,803,176 (GRCm38) L134F probably benign Het
Wdfy3 T A 5: 101,875,931 (GRCm38) I2437F probably benign Het
Wwc2 A T 8: 47,858,779 (GRCm38) L783* probably null Het
Zer1 C T 2: 30,108,246 (GRCm38) R351H probably benign Het
Zfp715 A T 7: 43,298,437 (GRCm38) F700I possibly damaging Het
Zfp995 G A 17: 21,879,979 (GRCm38) H425Y probably damaging Het
Other mutations in Taf10
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4352:Taf10 UTSW 7 105,743,407 (GRCm38) unclassified probably benign
R5341:Taf10 UTSW 7 105,740,932 (GRCm38) intron probably benign
R6943:Taf10 UTSW 7 105,744,176 (GRCm38) missense probably benign 0.23
R7016:Taf10 UTSW 7 105,743,998 (GRCm38) splice site probably null
R7535:Taf10 UTSW 7 105,740,910 (GRCm38) missense probably benign 0.04
R8175:Taf10 UTSW 7 105,743,927 (GRCm38) missense probably damaging 1.00
R8946:Taf10 UTSW 7 105,744,317 (GRCm38) start codon destroyed probably null
R9483:Taf10 UTSW 7 105,743,855 (GRCm38) missense probably benign 0.01
Predicted Primers
Posted On 2014-01-15