Incidental Mutation 'R5215:Taf6l'
ID 403456
Institutional Source Beutler Lab
Gene Symbol Taf6l
Ensembl Gene ENSMUSG00000003680
Gene Name TATA-box binding protein associated factor 6 like
Synonyms PAF65A, 2810417N14Rik, C530024J06Rik
MMRRC Submission 042788-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5215 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 8751851-8763781 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 8755417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003777] [ENSMUST00000010249] [ENSMUST00000176496] [ENSMUST00000176610] [ENSMUST00000177056] [ENSMUST00000177216] [ENSMUST00000189739]
AlphaFold Q8R2K4
Predicted Effect probably benign
Transcript: ENSMUST00000003777
SMART Domains Protein: ENSMUSP00000003777
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 16 79 9.03e-28 SMART
Pfam:DUF1546 248 339 4.5e-29 PFAM
low complexity region 565 576 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000010249
SMART Domains Protein: ENSMUSP00000010249
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
low complexity region 45 62 N/A INTRINSIC
transmembrane domain 64 86 N/A INTRINSIC
transmembrane domain 98 120 N/A INTRINSIC
low complexity region 173 182 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176331
Predicted Effect probably benign
Transcript: ENSMUST00000176496
SMART Domains Protein: ENSMUSP00000135090
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 17 80 9.03e-28 SMART
Pfam:DUF1546 224 315 4.3e-29 PFAM
low complexity region 541 552 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176610
SMART Domains Protein: ENSMUSP00000135193
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 17 80 9.03e-28 SMART
Pfam:TAF6_C 249 338 6.6e-22 PFAM
low complexity region 566 577 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176747
Predicted Effect probably benign
Transcript: ENSMUST00000177056
SMART Domains Protein: ENSMUSP00000135028
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 10 73 9.03e-28 SMART
Pfam:DUF1546 242 333 4.5e-29 PFAM
low complexity region 559 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000177216
SMART Domains Protein: ENSMUSP00000135220
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 17 80 9.03e-28 SMART
Pfam:DUF1546 249 340 6.4e-29 PFAM
low complexity region 566 577 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000189739
SMART Domains Protein: ENSMUSP00000140136
Gene: ENSMUSG00000003680

DomainStartEndE-ValueType
TAF 16 79 3.8e-31 SMART
Pfam:DUF1546 223 314 6.3e-26 PFAM
low complexity region 540 551 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (79/79)
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 protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alas1 C A 9: 106,120,574 (GRCm39) A73S probably benign Het
Aldoart2 G A 12: 55,612,204 (GRCm39) R43Q probably benign Het
Ano4 T C 10: 89,153,165 (GRCm39) H49R possibly damaging Het
Atic T C 1: 71,603,666 (GRCm39) S161P probably damaging Het
Atp6v1c2 T C 12: 17,341,659 (GRCm39) E244G probably benign Het
Cd164l2 C A 4: 132,948,789 (GRCm39) L42I unknown Het
Cdc42ep2 T C 19: 5,968,238 (GRCm39) R156G probably benign Het
Cdc45 C T 16: 18,614,647 (GRCm39) R205H probably damaging Het
Cdk5 T A 5: 24,624,459 (GRCm39) N265I probably benign Het
Cfap69 G T 5: 5,639,133 (GRCm39) N262K possibly damaging Het
Chd6 C T 2: 160,791,873 (GRCm39) V2495M probably damaging Het
Cps1 T A 1: 67,205,539 (GRCm39) F521I possibly damaging Het
Crb2 A G 2: 37,683,765 (GRCm39) E1089G probably benign Het
Decr1 T C 4: 15,929,795 (GRCm39) D166G probably damaging Het
Dhodh G A 8: 110,332,975 (GRCm39) probably benign Het
Dnaaf5 G A 5: 139,147,632 (GRCm39) V399I probably benign Het
Dnah11 T C 12: 118,121,096 (GRCm39) T526A probably benign Het
Drosha T C 15: 12,885,219 (GRCm39) probably benign Het
Elfn2 T A 15: 78,558,401 (GRCm39) I49F probably damaging Het
Gabra1 T C 11: 42,045,655 (GRCm39) T152A probably damaging Het
Gigyf2 C A 1: 87,292,988 (GRCm39) T85K probably damaging Het
Gimap8 A T 6: 48,628,017 (GRCm39) Y258F possibly damaging Het
Glmn A G 5: 107,709,752 (GRCm39) C351R probably benign Het
Gm10032 T C 14: 67,029,998 (GRCm39) noncoding transcript Het
Gorasp2 G A 2: 70,519,598 (GRCm39) A328T probably benign Het
Grin1 A T 2: 25,193,919 (GRCm39) H392Q probably benign Het
Gzmn A G 14: 56,405,319 (GRCm39) V55A probably damaging Het
Herc4 T A 10: 63,124,876 (GRCm39) S497T probably benign Het
Hrc A T 7: 44,985,515 (GRCm39) D222V probably damaging Het
Iars2 T C 1: 185,026,966 (GRCm39) H761R probably damaging Het
Jmjd1c T A 10: 67,076,480 (GRCm39) D2101E possibly damaging Het
Kcng1 C T 2: 168,105,053 (GRCm39) M264I probably benign Het
Klra14-ps C A 6: 130,134,646 (GRCm39) noncoding transcript Het
Krtap5-3 T A 7: 141,755,974 (GRCm39) C270* probably null Het
Lama3 A G 18: 12,710,957 (GRCm39) H3164R probably damaging Het
Lcor T C 19: 41,574,371 (GRCm39) I1042T probably damaging Het
Mdn1 T C 4: 32,741,418 (GRCm39) M3840T possibly damaging Het
Mtor A T 4: 148,538,440 (GRCm39) H166L probably benign Het
Mx1 T C 16: 97,249,560 (GRCm39) N556D possibly damaging Het
Oca2 A T 7: 55,945,246 (GRCm39) R285* probably null Het
Or12d13 T A 17: 37,647,704 (GRCm39) I140F probably benign Het
Or2at1 A G 7: 99,416,717 (GRCm39) E116G probably damaging Het
Or4k39 T C 2: 111,239,631 (GRCm39) noncoding transcript Het
Or56a3b G A 7: 104,775,771 (GRCm39) H246Y probably damaging Het
Or8g33 A T 9: 39,337,919 (GRCm39) Y149* probably null Het
Pan3 A G 5: 147,391,915 (GRCm39) probably null Het
Pard3 G A 8: 128,104,745 (GRCm39) V496M probably damaging Het
Pdcd2l A T 7: 33,892,314 (GRCm39) V185D possibly damaging Het
Pgghg T C 7: 140,526,477 (GRCm39) V623A possibly damaging Het
Pigu C A 2: 155,177,249 (GRCm39) probably benign Het
Pkmyt1 G A 17: 23,951,566 (GRCm39) R40Q probably benign Het
Prag1 G A 8: 36,567,043 (GRCm39) A65T probably benign Het
Prkdc C A 16: 15,589,985 (GRCm39) T2616N possibly damaging Het
Prpf8 G A 11: 75,391,030 (GRCm39) E1360K probably benign Het
Ptprt C T 2: 162,120,084 (GRCm39) V128M probably damaging Het
Rp1l1 C T 14: 64,267,462 (GRCm39) S1016L probably benign Het
Rprd1a G T 18: 24,621,257 (GRCm39) D307E probably damaging Het
Slc11a1 A T 1: 74,422,936 (GRCm39) probably benign Het
Slc22a16 T A 10: 40,457,386 (GRCm39) M209K probably damaging Het
Slf2 T G 19: 44,936,476 (GRCm39) L707R probably damaging Het
Son T A 16: 91,453,563 (GRCm39) M770K probably damaging Het
Tbc1d2 C A 4: 46,614,006 (GRCm39) V692L probably benign Het
Tnpo3 C T 6: 29,582,152 (GRCm39) probably benign Het
Txndc16 A T 14: 45,448,597 (GRCm39) probably benign Het
Ubr1 T C 2: 120,734,525 (GRCm39) K1125R probably benign Het
Vmn2r9 A G 5: 108,994,351 (GRCm39) S433P probably benign Het
Zc3h12a A G 4: 125,020,706 (GRCm39) S46P probably benign Het
Zwilch T G 9: 64,054,156 (GRCm39) I490L probably benign Het
Other mutations in Taf6l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00467:Taf6l APN 19 8,760,752 (GRCm39) missense probably benign 0.04
IGL00781:Taf6l APN 19 8,751,025 (GRCm39) missense probably damaging 1.00
IGL01886:Taf6l APN 19 8,755,450 (GRCm39) critical splice donor site probably null
IGL02638:Taf6l APN 19 8,752,630 (GRCm39) missense probably benign 0.03
IGL02676:Taf6l APN 19 8,752,413 (GRCm39) missense probably damaging 1.00
R0096:Taf6l UTSW 19 8,755,881 (GRCm39) missense probably benign 0.06
R0110:Taf6l UTSW 19 8,755,885 (GRCm39) missense probably benign 0.08
R0469:Taf6l UTSW 19 8,755,885 (GRCm39) missense probably benign 0.08
R0510:Taf6l UTSW 19 8,755,885 (GRCm39) missense probably benign 0.08
R0676:Taf6l UTSW 19 8,750,733 (GRCm39) missense probably benign 0.00
R0711:Taf6l UTSW 19 8,755,881 (GRCm39) missense probably benign 0.06
R1804:Taf6l UTSW 19 8,750,998 (GRCm39) missense probably damaging 0.99
R1971:Taf6l UTSW 19 8,752,866 (GRCm39) splice site probably null
R2869:Taf6l UTSW 19 8,755,992 (GRCm39) unclassified probably benign
R2870:Taf6l UTSW 19 8,755,992 (GRCm39) unclassified probably benign
R3105:Taf6l UTSW 19 8,756,219 (GRCm39) missense probably damaging 1.00
R4578:Taf6l UTSW 19 8,761,335 (GRCm39) missense possibly damaging 0.95
R4581:Taf6l UTSW 19 8,755,572 (GRCm39) missense probably damaging 0.99
R4841:Taf6l UTSW 19 8,759,770 (GRCm39) missense possibly damaging 0.77
R4842:Taf6l UTSW 19 8,759,770 (GRCm39) missense possibly damaging 0.77
R5269:Taf6l UTSW 19 8,752,326 (GRCm39) missense probably damaging 1.00
R5571:Taf6l UTSW 19 8,761,294 (GRCm39) missense probably damaging 1.00
R5687:Taf6l UTSW 19 8,750,676 (GRCm39) missense probably benign 0.01
R5799:Taf6l UTSW 19 8,759,995 (GRCm39) missense possibly damaging 0.93
R5814:Taf6l UTSW 19 8,752,210 (GRCm39) missense probably benign 0.13
R6008:Taf6l UTSW 19 8,755,530 (GRCm39) missense possibly damaging 0.65
R6091:Taf6l UTSW 19 8,755,920 (GRCm39) missense probably benign 0.04
R6228:Taf6l UTSW 19 8,756,030 (GRCm39) missense probably benign 0.01
R6569:Taf6l UTSW 19 8,750,074 (GRCm39) missense probably damaging 1.00
R6768:Taf6l UTSW 19 8,751,913 (GRCm39) missense probably damaging 1.00
R7586:Taf6l UTSW 19 8,761,210 (GRCm39) missense probably damaging 0.99
R8282:Taf6l UTSW 19 8,750,714 (GRCm39) missense possibly damaging 0.95
R8959:Taf6l UTSW 19 8,750,690 (GRCm39) missense possibly damaging 0.52
R8963:Taf6l UTSW 19 8,752,135 (GRCm39) missense probably benign
R9225:Taf6l UTSW 19 8,751,688 (GRCm39) critical splice donor site probably benign
R9340:Taf6l UTSW 19 8,752,636 (GRCm39) missense probably damaging 1.00
R9488:Taf6l UTSW 19 8,759,436 (GRCm39) missense probably benign 0.44
Z1176:Taf6l UTSW 19 8,759,908 (GRCm39) missense probably null 0.99
Predicted Primers PCR Primer
(F):5'- TCACAAACTGATGAAGGCCGG -3'
(R):5'- ACTGTTGCTTCCACAGGACG -3'

Sequencing Primer
(F):5'- GGGTTATATAACAAGCACTGCCTC -3'
(R):5'- CGCATGGAGACCTTGTAAGTG -3'
Posted On 2016-07-22