Incidental Mutation 'R4126:Taf11'
ID 315418
Institutional Source Beutler Lab
Gene Symbol Taf11
Ensembl Gene ENSMUSG00000024218
Gene Name TATA-box binding protein associated factor 11
Synonyms TAF2I, PRO214, 28kDa, TAFII28, 1110038O14Rik
MMRRC Submission 041634-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4126 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 28120096-28128723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28120746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 175 (K175E)
Ref Sequence ENSEMBL: ENSMUSP00000110498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025057] [ENSMUST00000114848] [ENSMUST00000114849]
AlphaFold Q99JX1
Predicted Effect possibly damaging
Transcript: ENSMUST00000025057
AA Change: K175E

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000025057
Gene: ENSMUSG00000024218
AA Change: K175E

DomainStartEndE-ValueType
low complexity region 45 60 N/A INTRINSIC
low complexity region 82 105 N/A INTRINSIC
Pfam:TAFII28 106 194 1.7e-38 PFAM
Pfam:CBFD_NFYB_HMF 127 191 8.2e-6 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000114848
AA Change: K175E

PolyPhen 2 Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000110498
Gene: ENSMUSG00000024218
AA Change: K175E

DomainStartEndE-ValueType
low complexity region 45 60 N/A INTRINSIC
low complexity region 82 105 N/A INTRINSIC
Pfam:TAFII28 108 193 3.1e-40 PFAM
Pfam:CBFD_NFYB_HMF 127 191 6.8e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114849
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512

DomainStartEndE-ValueType
Pfam:Chorein_N 1 104 2.6e-18 PFAM
low complexity region 234 247 N/A INTRINSIC
low complexity region 297 306 N/A INTRINSIC
low complexity region 1128 1144 N/A INTRINSIC
low complexity region 1200 1216 N/A INTRINSIC
low complexity region 1322 1333 N/A INTRINSIC
low complexity region 1375 1386 N/A INTRINSIC
coiled coil region 1394 1424 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155667
Meta Mutation Damage Score 0.0624 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 89% (33/37)
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 a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat T A 8: 60,984,703 (GRCm39) W249R probably benign Het
Ank G A 15: 27,590,459 (GRCm39) V348I probably benign Het
Atad3a A T 4: 155,838,518 (GRCm39) probably benign Het
Bbox1 A G 2: 110,100,525 (GRCm39) V224A probably benign Het
Cdk5rap1 A G 2: 154,210,815 (GRCm39) C108R probably damaging Het
Cds2 A G 2: 132,139,191 (GRCm39) T145A probably benign Het
Celsr2 G T 3: 108,309,413 (GRCm39) A1614D possibly damaging Het
Chd9 A G 8: 91,777,912 (GRCm39) D2641G probably damaging Het
E2f8 T C 7: 48,525,355 (GRCm39) I206V probably damaging Het
Glyat G T 19: 12,628,843 (GRCm39) V213F probably benign Het
Gpatch1 C T 7: 34,993,079 (GRCm39) probably null Het
Jarid2 T C 13: 45,055,732 (GRCm39) S313P probably damaging Het
Kcnc1 T C 7: 46,047,426 (GRCm39) Y109H probably damaging Het
Kif12 C T 4: 63,084,674 (GRCm39) S548N probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myrip C A 9: 120,293,764 (GRCm39) S753* probably null Het
Naalad2 T C 9: 18,258,766 (GRCm39) Y503C probably damaging Het
Nid1 T C 13: 13,650,957 (GRCm39) V498A probably damaging Het
Or8k25 A T 2: 86,243,568 (GRCm39) I276N probably damaging Het
Parp8 C A 13: 117,005,005 (GRCm39) K685N possibly damaging Het
Prr14l G T 5: 32,985,347 (GRCm39) H1383N probably damaging Het
Pxn A G 5: 115,684,966 (GRCm39) R264G probably damaging Het
Slc6a20a G T 9: 123,489,598 (GRCm39) F148L probably damaging Het
Spag11b T C 8: 19,191,395 (GRCm39) S23P possibly damaging Het
Stac C A 9: 111,433,126 (GRCm39) probably null Het
Tll1 T C 8: 64,571,048 (GRCm39) R175G possibly damaging Het
Trip11 G A 12: 101,861,957 (GRCm39) Q203* probably null Het
Usp4 T C 9: 108,237,316 (GRCm39) V128A probably benign Het
Zfp788 T C 7: 41,298,860 (GRCm39) F479L probably damaging Het
Zmiz1 T G 14: 25,657,354 (GRCm39) S877A possibly damaging Het
Other mutations in Taf11
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0115:Taf11 UTSW 17 28,126,635 (GRCm39) missense probably benign
R1627:Taf11 UTSW 17 28,124,253 (GRCm39) missense probably benign 0.02
R3782:Taf11 UTSW 17 28,122,167 (GRCm39) unclassified probably benign
R5861:Taf11 UTSW 17 28,120,644 (GRCm39) missense probably benign 0.00
R6789:Taf11 UTSW 17 28,126,492 (GRCm39) missense probably benign 0.00
R8500:Taf11 UTSW 17 28,121,594 (GRCm39) missense probably damaging 1.00
R9714:Taf11 UTSW 17 28,122,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AAAATCGGCATCCTGCGTCC -3'
(R):5'- TGTGGGATAAAGCCAAAGCC -3'

Sequencing Primer
(F):5'- ATCCTGCGTCCCGAGCTC -3'
(R):5'- TCCTCCCAAGTGCTAGGATTAAAGG -3'
Posted On 2015-05-14