Incidental Mutation 'R1082:Taf6'
ID 85863
Institutional Source Beutler Lab
Gene Symbol Taf6
Ensembl Gene ENSMUSG00000036980
Gene Name TATA-box binding protein associated factor 6
Synonyms p80, 80kDa, Taf2e
MMRRC Submission 039168-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1082 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 138176879-138185713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 138180949 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 211 (R211C)
Ref Sequence ENSEMBL: ENSMUSP00000122534 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110934] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000123415] [ENSMUST00000153117] [ENSMUST00000143241] [ENSMUST00000139276]
AlphaFold Q62311
Predicted Effect probably benign
Transcript: ENSMUST00000019662
SMART Domains Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 142 2e-49 SMART
Pfam:Adap_comp_sub 173 449 2.5e-63 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000048698
AA Change: R211C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
AA Change: R211C

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
low complexity region 142 161 N/A INTRINSIC
low complexity region 179 197 N/A INTRINSIC
Pfam:DUF1546 308 399 1e-35 PFAM
low complexity region 466 476 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 542 578 N/A INTRINSIC
low complexity region 586 602 N/A INTRINSIC
low complexity region 615 646 N/A INTRINSIC
low complexity region 665 676 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110934
SMART Domains Protein: ENSMUSP00000106559
Gene: ENSMUSG00000036968

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:DUF3456 43 202 3.4e-51 PFAM
low complexity region 218 230 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110936
AA Change: R211C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
AA Change: R211C

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
low complexity region 142 161 N/A INTRINSIC
low complexity region 179 197 N/A INTRINSIC
Pfam:TAF6_C 308 397 1.1e-33 PFAM
low complexity region 466 476 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 542 578 N/A INTRINSIC
low complexity region 586 602 N/A INTRINSIC
low complexity region 615 646 N/A INTRINSIC
low complexity region 665 676 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110937
AA Change: R211C

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980
AA Change: R211C

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
low complexity region 142 161 N/A INTRINSIC
low complexity region 179 197 N/A INTRINSIC
Pfam:DUF1546 308 399 1.9e-36 PFAM
low complexity region 466 476 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 542 549 N/A INTRINSIC
low complexity region 559 576 N/A INTRINSIC
low complexity region 606 615 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000123415
AA Change: R211C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980
AA Change: R211C

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
low complexity region 142 161 N/A INTRINSIC
low complexity region 179 197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130473
Predicted Effect probably benign
Transcript: ENSMUST00000153117
SMART Domains Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000143241
SMART Domains Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 86 2e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139276
SMART Domains Protein: ENSMUSP00000116512
Gene: ENSMUSG00000036980

DomainStartEndE-ValueType
Pfam:TAF 11 55 2.5e-22 PFAM
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.1%
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 smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579F01Rik G A 3: 137,879,332 (GRCm39) R239C possibly damaging Het
Aass T A 6: 23,093,907 (GRCm39) D138V probably damaging Het
Adam30 T C 3: 98,069,606 (GRCm39) S480P probably benign Het
Bdkrb2 T A 12: 105,558,851 (GRCm39) M364K probably benign Het
Bnc2 T C 4: 84,464,572 (GRCm39) D67G probably damaging Het
Cfap52 A G 11: 67,815,998 (GRCm39) I595T probably damaging Het
Clspn A T 4: 126,471,572 (GRCm39) N909Y possibly damaging Het
Ddx46 T C 13: 55,802,909 (GRCm39) V477A possibly damaging Het
Dna2 C T 10: 62,784,966 (GRCm39) R28W probably benign Het
Dnah3 A G 7: 119,677,668 (GRCm39) S419P probably damaging Het
Fat3 A G 9: 15,917,911 (GRCm39) F1504S probably damaging Het
Guf1 G T 5: 69,724,555 (GRCm39) V416L possibly damaging Het
Hsd11b2 A G 8: 106,249,783 (GRCm39) D298G probably damaging Het
Mipol1 A T 12: 57,372,402 (GRCm39) I154F probably damaging Het
Myo18b A G 5: 112,908,280 (GRCm39) S1998P probably damaging Het
Myo6 C T 9: 80,195,303 (GRCm39) T891M probably damaging Het
Nbeal1 T A 1: 60,351,385 (GRCm39) I2461K probably damaging Het
Notch4 T C 17: 34,806,364 (GRCm39) F1767S probably damaging Het
Or7e178 A T 9: 20,225,765 (GRCm39) H150Q possibly damaging Het
Pi4ka A T 16: 17,207,216 (GRCm39) S30T probably damaging Het
Ppp1r26 A G 2: 28,342,146 (GRCm39) D592G probably damaging Het
Ptp4a2 T C 4: 129,741,580 (GRCm39) F157L probably benign Het
Sf3b1 C G 1: 55,058,554 (GRCm39) E12Q possibly damaging Het
Shank3 T C 15: 89,433,574 (GRCm39) S1365P probably damaging Het
Slc27a6 T A 18: 58,689,632 (GRCm39) Y33N probably damaging Het
Slco1a7 C T 6: 141,657,859 (GRCm39) G560S probably damaging Het
Speg T A 1: 75,391,782 (GRCm39) S1572T possibly damaging Het
Tyrobp T C 7: 30,114,033 (GRCm39) S65P probably damaging Het
Other mutations in Taf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:Taf6 APN 5 138,179,169 (GRCm39) missense probably damaging 1.00
IGL02445:Taf6 APN 5 138,182,756 (GRCm39) utr 5 prime probably benign
IGL02734:Taf6 APN 5 138,182,118 (GRCm39) missense possibly damaging 0.82
IGL02861:Taf6 APN 5 138,182,147 (GRCm39) missense probably damaging 1.00
IGL02983:Taf6 APN 5 138,177,142 (GRCm39) missense probably benign
PIT4515001:Taf6 UTSW 5 138,180,504 (GRCm39) missense probably benign 0.32
R0189:Taf6 UTSW 5 138,180,975 (GRCm39) missense probably benign 0.00
R0344:Taf6 UTSW 5 138,179,409 (GRCm39) missense probably benign 0.09
R0567:Taf6 UTSW 5 138,181,988 (GRCm39) splice site probably null
R2375:Taf6 UTSW 5 138,180,463 (GRCm39) nonsense probably null
R4466:Taf6 UTSW 5 138,179,463 (GRCm39) splice site probably benign
R4845:Taf6 UTSW 5 138,180,909 (GRCm39) missense possibly damaging 0.83
R4959:Taf6 UTSW 5 138,181,465 (GRCm39) nonsense probably null
R4973:Taf6 UTSW 5 138,181,465 (GRCm39) nonsense probably null
R5059:Taf6 UTSW 5 138,177,709 (GRCm39) missense probably benign 0.15
R5232:Taf6 UTSW 5 138,178,214 (GRCm39) missense possibly damaging 0.80
R7211:Taf6 UTSW 5 138,177,088 (GRCm39) missense possibly damaging 0.53
R7505:Taf6 UTSW 5 138,178,207 (GRCm39) nonsense probably null
R7776:Taf6 UTSW 5 138,180,282 (GRCm39) missense probably damaging 1.00
R8163:Taf6 UTSW 5 138,180,238 (GRCm39) missense possibly damaging 0.83
R8278:Taf6 UTSW 5 138,178,097 (GRCm39) missense probably benign 0.12
R8464:Taf6 UTSW 5 138,180,924 (GRCm39) missense probably damaging 1.00
R8910:Taf6 UTSW 5 138,182,716 (GRCm39) missense probably benign 0.06
R9074:Taf6 UTSW 5 138,180,465 (GRCm39) missense probably damaging 1.00
R9157:Taf6 UTSW 5 138,179,221 (GRCm39) missense possibly damaging 0.73
R9161:Taf6 UTSW 5 138,178,160 (GRCm39) missense probably benign 0.00
R9254:Taf6 UTSW 5 138,181,952 (GRCm39) missense possibly damaging 0.59
R9379:Taf6 UTSW 5 138,181,952 (GRCm39) missense possibly damaging 0.59
R9447:Taf6 UTSW 5 138,176,970 (GRCm39) makesense probably null
X0019:Taf6 UTSW 5 138,180,462 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- AGAGCCCTCAGATGAACCTACCTTG -3'
(R):5'- AGCCCAGACGCCTATAGAAGAGTTG -3'

Sequencing Primer
(F):5'- CCCTCTGAGATGAAGGTACTG -3'
(R):5'- tgtgtgtgtgtgtgtTAGCTATC -3'
Posted On 2013-11-18