Incidental Mutation 'R5814:Taf6l'
ID 447709
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 043396-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R5814 (G1)
Quality Score 185
Status Validated
Chromosome 19
Chromosomal Location 8751851-8763781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 8752210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 493 (A493S)
Ref Sequence ENSEMBL: ENSMUSP00000140136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003777] [ENSMUST00000010241] [ENSMUST00000010248] [ENSMUST00000010249] [ENSMUST00000176496] [ENSMUST00000189739] [ENSMUST00000176610] [ENSMUST00000177056] [ENSMUST00000177216] [ENSMUST00000184970]
AlphaFold Q8R2K4
Predicted Effect probably benign
Transcript: ENSMUST00000003777
AA Change: A518S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000003777
Gene: ENSMUSG00000003680
AA Change: A518S

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: ENSMUST00000010241
SMART Domains Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
low complexity region 67 81 N/A INTRINSIC
Pfam:Tap-RNA_bind 115 198 7.6e-42 PFAM
low complexity region 258 274 N/A INTRINSIC
LRRcap 333 351 1.44e0 SMART
Pfam:NTF2 385 535 1.3e-29 PFAM
TAP_C 555 618 1.85e-33 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000010248
SMART Domains Protein: ENSMUSP00000010248
Gene: ENSMUSG00000010097

DomainStartEndE-ValueType
Pfam:TMEM223 32 197 6.5e-64 PFAM
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 probably benign
Transcript: ENSMUST00000176496
AA Change: A494S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000135090
Gene: ENSMUSG00000003680
AA Change: A494S

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: ENSMUST00000189739
AA Change: A493S

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000140136
Gene: ENSMUSG00000003680
AA Change: A493S

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
Predicted Effect probably benign
Transcript: ENSMUST00000176610
AA Change: A519S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000135193
Gene: ENSMUSG00000003680
AA Change: A519S

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 probably benign
Transcript: ENSMUST00000177056
AA Change: A512S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000135028
Gene: ENSMUSG00000003680
AA Change: A512S

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
AA Change: A519S

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000135220
Gene: ENSMUSG00000003680
AA Change: A519S

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 noncoding transcript
Transcript: ENSMUST00000183898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184808
Predicted Effect probably benign
Transcript: ENSMUST00000184970
SMART Domains Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097

DomainStartEndE-ValueType
low complexity region 33 50 N/A INTRINSIC
low complexity region 67 81 N/A INTRINSIC
Pfam:Tap-RNA_bind 112 199 2.4e-45 PFAM
low complexity region 258 274 N/A INTRINSIC
Pfam:LRR_1 291 314 3.2e-2 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000184826
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.8%
Validation Efficiency 91% (52/57)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik T C 7: 130,740,811 (GRCm39) D135G probably benign Het
Arrdc3 G T 13: 81,038,698 (GRCm39) R220L possibly damaging Het
Bace1 A G 9: 45,771,562 (GRCm39) D458G probably damaging Het
Cacna1s A G 1: 136,034,880 (GRCm39) Y1360C probably benign Het
Ccnb1-ps T C 7: 41,756,522 (GRCm39) noncoding transcript Het
Cd209b T C 8: 3,973,348 (GRCm39) E112G probably damaging Het
Cit T A 5: 116,117,478 (GRCm39) L1176Q probably damaging Het
Clcn3 T C 8: 61,387,607 (GRCm39) Y214C probably damaging Het
Clvs2 G T 10: 33,404,503 (GRCm39) Q238K probably benign Het
Creb3l3 C T 10: 80,921,496 (GRCm39) V350M probably benign Het
Crot A C 5: 9,023,996 (GRCm39) D373E probably damaging Het
Cyp4a12b T A 4: 115,289,694 (GRCm39) I187N probably damaging Het
Degs1l G A 1: 180,882,663 (GRCm39) V142I probably damaging Het
Dnhd1 C A 7: 105,369,102 (GRCm39) A4291D possibly damaging Het
Dnmt3b A T 2: 153,514,417 (GRCm39) E403D probably benign Het
Ect2l A T 10: 18,075,757 (GRCm39) I43K probably damaging Het
Efcab3 T A 11: 104,626,940 (GRCm39) probably benign Het
Ep400 C A 5: 110,843,444 (GRCm39) probably null Het
Erp27 A T 6: 136,888,564 (GRCm39) V138E possibly damaging Het
Gbp4 G A 5: 105,267,785 (GRCm39) A487V probably benign Het
Gm10142 C A 10: 77,551,957 (GRCm39) T106N probably damaging Het
Gxylt2 C A 6: 100,710,196 (GRCm39) H112Q probably damaging Het
Hexim2 G A 11: 103,029,209 (GRCm39) R87Q probably damaging Het
Hgf A G 5: 16,807,305 (GRCm39) N399S probably benign Het
Ikbke T A 1: 131,199,516 (GRCm39) I302F probably damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kdm1b A G 13: 47,216,622 (GRCm39) probably null Het
Krtap19-9a T C 16: 88,721,002 (GRCm39) noncoding transcript Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Mmp10 G A 9: 7,503,621 (GRCm39) A164T possibly damaging Het
Myrip G A 9: 120,253,734 (GRCm39) G269D probably benign Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Paxbp1 G T 16: 90,827,384 (GRCm39) R420S probably damaging Het
Pcbp2 T A 15: 102,391,597 (GRCm39) S38R probably damaging Het
Pcf11 A G 7: 92,306,922 (GRCm39) V1082A probably benign Het
Pkhd1 T C 1: 20,269,629 (GRCm39) E3305G probably damaging Het
Pla2g4c T A 7: 13,074,543 (GRCm39) W250R probably damaging Het
Prune2 A G 19: 16,993,725 (GRCm39) probably null Het
Rpsa A G 9: 119,957,551 (GRCm39) probably benign Het
Sema3e A G 5: 14,275,680 (GRCm39) I262V probably benign Het
Setd2 T A 9: 110,396,826 (GRCm39) L1663* probably null Het
Sh3d19 G A 3: 86,033,911 (GRCm39) V755I probably benign Het
Spag9 T A 11: 93,973,654 (GRCm39) V14E possibly damaging Het
Srsf11 C T 3: 157,728,981 (GRCm39) probably benign Het
Sspo A T 6: 48,428,818 (GRCm39) Q411L probably damaging Het
Sycp1 A C 3: 102,803,213 (GRCm39) S532R probably benign Het
Tsnaxip1 A G 8: 106,570,603 (GRCm39) D574G probably benign Het
Ttll10 T A 4: 156,132,084 (GRCm39) K117N possibly damaging Het
Uqcc5 A G 14: 30,846,477 (GRCm39) probably null Het
Utp4 T A 8: 107,638,907 (GRCm39) I405K probably damaging Het
Vmn2r45 T A 7: 8,474,475 (GRCm39) Y851F probably benign Het
Vps33a T C 5: 123,703,119 (GRCm39) D168G probably damaging 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
R5215:Taf6l UTSW 19 8,755,417 (GRCm39) intron probably benign
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
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'- GTGGCTTTATTCTCCGAGGC -3'
(R):5'- TTTGGTGACAGCTTGGCCAC -3'

Sequencing Primer
(F):5'- CAGTTTGAAAGAGGCGCCC -3'
(R):5'- ACTCGCTTTGGCACTGG -3'
Posted On 2016-12-15