Incidental Mutation 'R0344:Taf6'
ID 26429
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 038551-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0344 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 138176879-138185713 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 138179409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 377 (I377L)
Ref Sequence ENSEMBL: ENSMUSP00000106562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000123415] [ENSMUST00000153117] [ENSMUST00000139276] [ENSMUST00000143241]
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 probably benign
Transcript: ENSMUST00000048698
AA Change: I377L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
AA Change: I377L

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: ENSMUST00000110936
AA Change: I377L

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
AA Change: I377L

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: I377L

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980
AA Change: I377L

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 probably benign
Transcript: ENSMUST00000123415
SMART Domains Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980

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: ENSMUST00000130473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200483
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134100
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: ENSMUST00000139276
SMART Domains Protein: ENSMUSP00000116512
Gene: ENSMUSG00000036980

DomainStartEndE-ValueType
Pfam:TAF 11 55 2.5e-22 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143241
SMART Domains Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 86 2e-25 SMART
Meta Mutation Damage Score 0.1352 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.3%
  • 20x: 93.6%
Validation Efficiency 99% (81/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553J12Rik T A 16: 88,617,189 (GRCm39) C29* probably null Het
Abca4 G A 3: 121,877,613 (GRCm39) C324Y probably damaging Het
Ablim2 T G 5: 35,994,277 (GRCm39) probably benign Het
Abr A T 11: 76,369,870 (GRCm39) V115E probably damaging Het
Adgrl2 C T 3: 148,571,231 (GRCm39) probably null Het
Aff3 A T 1: 38,243,013 (GRCm39) S936T probably benign Het
Agap3 T C 5: 24,656,200 (GRCm39) probably benign Het
Ahrr T A 13: 74,362,705 (GRCm39) S393C probably damaging Het
Amfr T C 8: 94,713,998 (GRCm39) probably null Het
Ankrd26 C A 6: 118,484,598 (GRCm39) probably null Het
Asxl3 G A 18: 22,650,668 (GRCm39) V886I probably benign Het
Atp5f1a C A 18: 77,867,895 (GRCm39) N356K probably damaging Het
AU021092 A T 16: 5,040,031 (GRCm39) M31K possibly damaging Het
Bicral A G 17: 47,124,978 (GRCm39) probably benign Het
Btbd9 C T 17: 30,493,916 (GRCm39) D492N possibly damaging Het
C3ar1 T C 6: 122,827,731 (GRCm39) D162G probably benign Het
Camkk2 C T 5: 122,901,940 (GRCm39) C123Y probably benign Het
Casp8ap2 A T 4: 32,644,079 (GRCm39) I1051F probably damaging Het
Catsperg1 A T 7: 28,894,965 (GRCm39) V544E probably damaging Het
Cdc27 G A 11: 104,417,817 (GRCm39) probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Dennd6b T C 15: 89,080,432 (GRCm39) Q56R probably benign Het
Dmac2l T C 12: 69,787,663 (GRCm39) probably benign Het
Fbxl17 G A 17: 63,692,062 (GRCm39) probably benign Het
Fubp1 T C 3: 151,925,350 (GRCm39) V164A probably damaging Het
Gdap2 G A 3: 100,085,572 (GRCm39) G165S probably damaging Het
Gns A G 10: 121,219,328 (GRCm39) K352E probably benign Het
Gtf2ird2 C T 5: 134,220,088 (GRCm39) T22M probably damaging Het
Herc3 A G 6: 58,845,613 (GRCm39) probably benign Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Inpp1 A T 1: 52,838,513 (GRCm39) F45L probably damaging Het
Ipo4 T C 14: 55,863,399 (GRCm39) Q1073R possibly damaging Het
Itgae A G 11: 73,008,973 (GRCm39) K485E probably benign Het
Jak2 G A 19: 29,261,029 (GRCm39) V342I probably damaging Het
Kptn C A 7: 15,859,666 (GRCm39) Q297K probably damaging Het
Lims2 A G 18: 32,077,573 (GRCm39) E103G probably benign Het
Mthfr C G 4: 148,139,885 (GRCm39) S618W probably damaging Het
Nanos3 C T 8: 84,902,763 (GRCm39) R133Q probably damaging Het
Nup133 A G 8: 124,644,185 (GRCm39) V727A possibly damaging Het
Oas2 T G 5: 120,881,152 (GRCm39) E313A probably damaging Het
Or10d4c G A 9: 39,558,646 (GRCm39) C208Y probably damaging Het
Or52b2 C A 7: 104,986,814 (GRCm39) M36I probably benign Het
Or5b105 G A 19: 13,080,642 (GRCm39) R3C possibly damaging Het
Or5m8 T A 2: 85,822,726 (GRCm39) C188* probably null Het
Or5p63 A T 7: 107,810,949 (GRCm39) Y262* probably null Het
Park7 A G 4: 150,992,806 (GRCm39) V20A possibly damaging Het
Pgap4 T C 4: 49,586,566 (GRCm39) T201A probably benign Het
Phldb1 C A 9: 44,612,964 (GRCm39) V919L probably benign Het
Pkhd1l1 C A 15: 44,460,407 (GRCm39) H4205Q probably benign Het
Plekhg3 G T 12: 76,613,040 (GRCm39) E449* probably null Het
Pramel26 A T 4: 143,537,338 (GRCm39) I331N probably damaging Het
Pstpip1 T C 9: 56,033,929 (GRCm39) V301A probably benign Het
Ptdss1 G A 13: 67,081,636 (GRCm39) R22H probably damaging Het
Ptprq A G 10: 107,541,443 (GRCm39) V361A probably benign Het
Ralgapa2 A T 2: 146,188,714 (GRCm39) V1309E possibly damaging Het
Rere T C 4: 150,695,438 (GRCm39) probably benign Het
Sbk3 T A 7: 4,970,404 (GRCm39) T322S possibly damaging Het
Scn9a T A 2: 66,335,354 (GRCm39) I1203L probably damaging Het
Setdb1 A T 3: 95,233,442 (GRCm39) probably benign Het
Sik3 C A 9: 46,120,109 (GRCm39) Q683K probably damaging Het
Slc24a5 A G 2: 124,927,621 (GRCm39) I307V probably benign Het
Smg6 A G 11: 74,820,647 (GRCm39) D306G probably damaging Het
Snx13 G A 12: 35,136,899 (GRCm39) W120* probably null Het
Snx5 A G 2: 144,099,128 (GRCm39) probably benign Het
Srsf5 T C 12: 80,994,298 (GRCm39) S76P probably benign Het
Stard6 A G 18: 70,629,186 (GRCm39) D31G probably damaging Het
Taf3 A G 2: 9,956,709 (GRCm39) M333T probably benign Het
Taf8 G T 17: 47,804,505 (GRCm39) N252K probably benign Het
Tfap2c A G 2: 172,393,423 (GRCm39) T113A probably benign Het
Tmtc4 C T 14: 123,215,572 (GRCm39) V25M probably damaging Het
Topbp1 T A 9: 103,205,886 (GRCm39) D841E probably damaging Het
Topbp1 T A 9: 103,185,932 (GRCm39) probably benign Het
Ttn A T 2: 76,542,833 (GRCm39) D33384E probably damaging Het
Unc13c T C 9: 73,838,067 (GRCm39) E928G probably benign Het
Vav1 T C 17: 57,603,090 (GRCm39) F81L probably damaging Het
Vmn2r63 A G 7: 42,553,042 (GRCm39) I738T probably damaging Het
Vmn2r87 C T 10: 130,315,806 (GRCm39) E87K probably damaging Het
Zfp229 A T 17: 21,964,822 (GRCm39) M351L probably benign 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
R0567:Taf6 UTSW 5 138,181,988 (GRCm39) splice site probably null
R1082:Taf6 UTSW 5 138,180,949 (GRCm39) missense possibly damaging 0.92
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'- TACGGTCGATGTTGCTCAGCAC -3'
(R):5'- AGTATACCATGTACTCCAGGCAGGC -3'

Sequencing Primer
(F):5'- TTGCTCAGCACAGGCCC -3'
(R):5'- TGTGCCAGGTTAGCCTTTCT -3'
Posted On 2013-04-16