Incidental Mutation 'R8500:Taf11'
ID 658496
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 067942-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8500 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 28120096-28128723 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 28121594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 138 (I138N)
Ref Sequence ENSEMBL: ENSMUSP00000110498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025057] [ENSMUST00000114848] [ENSMUST00000114849]
AlphaFold Q99JX1
Predicted Effect probably damaging
Transcript: ENSMUST00000025057
AA Change: I138N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000025057
Gene: ENSMUSG00000024218
AA Change: I138N

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 probably damaging
Transcript: ENSMUST00000114848
AA Change: I138N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110498
Gene: ENSMUSG00000024218
AA Change: I138N

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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 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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C T 15: 84,871,836 (GRCm39) S56N probably benign Het
Atg16l2 T G 7: 100,939,473 (GRCm39) D542A probably damaging Het
Blm A G 7: 80,105,032 (GRCm39) L1412P probably damaging Het
Cdc37 T C 9: 21,052,097 (GRCm39) D314G probably damaging Het
Cela1 T A 15: 100,573,213 (GRCm39) M39L probably benign Het
Col12a1 T A 9: 79,517,133 (GRCm39) D2849V probably damaging Het
Fam53c A G 18: 34,901,854 (GRCm39) E257G probably damaging Het
Fmo9 A T 1: 166,502,039 (GRCm39) N144K probably damaging Het
Gabrd T A 4: 155,470,148 (GRCm39) M354L probably benign Het
Gm5773 A T 3: 93,680,835 (GRCm39) D169V probably benign Het
Gria2 A T 3: 80,599,774 (GRCm39) F703L probably damaging Het
Grm3 A T 5: 9,561,726 (GRCm39) I708N probably benign Het
Hlcs G A 16: 94,063,617 (GRCm39) P481L possibly damaging Het
Ifi206 T C 1: 173,314,311 (GRCm39) Y43C Het
Igf2r A G 17: 12,928,328 (GRCm39) L1005P probably damaging Het
Ighv2-6-8 T C 12: 113,759,834 (GRCm39) N92D possibly damaging Het
Invs A G 4: 48,422,109 (GRCm39) K914E probably damaging Het
Iqsec3 T C 6: 121,389,813 (GRCm39) probably benign Het
Klra6 T C 6: 129,999,660 (GRCm39) T103A probably benign Het
Lipo5 C T 19: 33,441,849 (GRCm39) probably null Het
Llgl1 T C 11: 60,595,809 (GRCm39) probably null Het
Lonrf1 T C 8: 36,698,292 (GRCm39) E402G probably benign Het
Lrp1b T A 2: 41,396,791 (GRCm39) Y311F probably benign Het
Lrrc8a T A 2: 30,146,208 (GRCm39) W341R possibly damaging Het
Lrriq1 A G 10: 102,882,016 (GRCm39) I117T Het
Mmp9 T C 2: 164,795,486 (GRCm39) V668A possibly damaging Het
Naip5 A C 13: 100,359,220 (GRCm39) M672R probably damaging Het
Ncam1 A T 9: 49,431,445 (GRCm39) L664Q probably damaging Het
Nol4l T C 2: 153,278,266 (GRCm39) D234G probably damaging Het
Or5t16 T C 2: 86,818,822 (GRCm39) K233E probably damaging Het
Oscp1 T A 4: 125,971,203 (GRCm39) H170Q possibly damaging Het
Pard3 T A 8: 128,186,784 (GRCm39) M1021K probably damaging Het
Pkd1l2 T A 8: 117,774,302 (GRCm39) probably null Het
Plcxd2 T C 16: 45,800,949 (GRCm39) K92E probably damaging Het
Ptpdc1 A T 13: 48,739,759 (GRCm39) C557* probably null Het
Robo2 G A 16: 73,745,228 (GRCm39) T849I probably damaging Het
Rp1 A T 1: 4,416,813 (GRCm39) I1433N possibly damaging Het
Scarb1 A G 5: 125,371,227 (GRCm39) S282P probably damaging Het
Schip1 G T 3: 68,401,946 (GRCm39) G36C probably damaging Het
Sf3a1 T A 11: 4,125,039 (GRCm39) S357T probably benign Het
Sh3glb2 A T 2: 30,249,216 (GRCm39) M1K probably null Het
Slc1a3 T C 15: 8,671,853 (GRCm39) T368A probably damaging Het
Slc66a1 A G 4: 139,027,440 (GRCm39) probably benign Het
Tnfaip8l1 C T 17: 56,478,749 (GRCm39) A13V probably damaging Het
Trav6-2 T G 14: 52,905,092 (GRCm39) F38V probably benign Het
Vmn2r73 A G 7: 85,519,638 (GRCm39) V440A probably benign Het
Zfp292 A G 4: 34,826,691 (GRCm39) probably null Het
Zfp429 A T 13: 67,538,828 (GRCm39) C205* probably null Het
Zfp735 C G 11: 73,601,811 (GRCm39) L252V possibly damaging Het
Zfyve26 A T 12: 79,334,454 (GRCm39) L188Q probably 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
R4126:Taf11 UTSW 17 28,120,746 (GRCm39) missense possibly damaging 0.71
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
R9714:Taf11 UTSW 17 28,122,136 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATCCCTTACATGCCTCGGTG -3'
(R):5'- AGTGCCTATGAACCTTTGGC -3'

Sequencing Primer
(F):5'- AGGTACTCTTGGGAATGC -3'
(R):5'- CCCAACCAGATTAGAGGTCGTTG -3'
Posted On 2021-01-18