Incidental Mutation 'R6008:Taf6l'
ID 479625
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 044185-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R6008 (G1)
Quality Score 220.009
Status Validated
Chromosome 19
Chromosomal Location 8751851-8763781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8755530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 275 (Q275R)
Ref Sequence ENSEMBL: ENSMUSP00000140136 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003777] [ENSMUST00000010249] [ENSMUST00000176496] [ENSMUST00000176610] [ENSMUST00000189739] [ENSMUST00000177056] [ENSMUST00000177216]
AlphaFold Q8R2K4
Predicted Effect possibly damaging
Transcript: ENSMUST00000003777
AA Change: Q300R

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000003777
Gene: ENSMUSG00000003680
AA Change: Q300R

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 possibly damaging
Transcript: ENSMUST00000176496
AA Change: Q276R

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000135090
Gene: ENSMUSG00000003680
AA Change: Q276R

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 possibly damaging
Transcript: ENSMUST00000176610
AA Change: Q301R

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135193
Gene: ENSMUSG00000003680
AA Change: Q301R

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 possibly damaging
Transcript: ENSMUST00000189739
AA Change: Q275R

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000140136
Gene: ENSMUSG00000003680
AA Change: Q275R

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: ENSMUST00000177056
AA Change: Q294R

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135028
Gene: ENSMUSG00000003680
AA Change: Q294R

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 possibly damaging
Transcript: ENSMUST00000177216
AA Change: Q301R

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000135220
Gene: ENSMUSG00000003680
AA Change: Q301R

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: ENSMUST00000176747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176719
Meta Mutation Damage Score 0.2301 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,727,978 (GRCm39) L1268P possibly damaging Het
Acot3 T A 12: 84,103,860 (GRCm39) V223E probably damaging Het
Afap1 T G 5: 36,154,895 (GRCm39) S680A probably damaging Het
Aox1 C T 1: 58,116,672 (GRCm39) A801V probably damaging Het
Atp8b1 G T 18: 64,710,687 (GRCm39) T155K probably damaging Het
Bard1 C A 1: 71,069,909 (GRCm39) V690F possibly damaging Het
Btnl9 C A 11: 49,073,792 (GRCm39) probably null Het
C1rl A G 6: 124,470,147 (GRCm39) N13S probably benign Het
Cad C A 5: 31,226,456 (GRCm39) T1166K probably damaging Het
Ckap5 T A 2: 91,393,334 (GRCm39) M405K probably damaging Het
Csn1s1 T C 5: 87,825,944 (GRCm39) probably null Het
Ctnna2 A G 6: 76,892,811 (GRCm39) L792P probably damaging Het
Dennd3 T A 15: 73,438,929 (GRCm39) V1099D possibly damaging Het
Dnai2 A G 11: 114,643,816 (GRCm39) N482S probably benign Het
Dock10 T C 1: 80,583,890 (GRCm39) T184A probably damaging Het
Ear2 T A 14: 44,340,546 (GRCm39) L68H probably damaging Het
Edn3 A G 2: 174,621,525 (GRCm39) T149A probably benign Het
Erf C T 7: 24,945,041 (GRCm39) V131M probably benign Het
Esp34 A G 17: 38,865,118 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golga1 A G 2: 38,937,099 (GRCm39) V161A probably benign Het
Gpr17 T A 18: 32,080,530 (GRCm39) T178S probably benign Het
Gsg1l2 T A 11: 67,665,537 (GRCm39) I35N possibly damaging Het
Hmgn3 T A 9: 82,994,284 (GRCm39) T46S probably damaging Het
Hydin A C 8: 111,325,717 (GRCm39) I4709L probably benign Het
Ifna9 A T 4: 88,510,600 (GRCm39) L8Q probably null Het
Iftap A T 2: 101,413,898 (GRCm39) M133K possibly damaging Het
Kpna4 T C 3: 69,034,066 (GRCm39) E125G probably null Het
Lrriq1 A G 10: 103,006,325 (GRCm39) S1267P probably damaging Het
Mab21l1 G T 3: 55,690,518 (GRCm39) C35F possibly damaging Het
Map3k2 A G 18: 32,336,104 (GRCm39) D97G probably damaging Het
Matcap2 G A 9: 22,335,422 (GRCm39) W13* probably null Het
Mdn1 T A 4: 32,741,073 (GRCm39) I3799N probably damaging Het
Mki67 G A 7: 135,299,158 (GRCm39) R1959C probably damaging Het
Mroh1 A T 15: 76,335,557 (GRCm39) H1400L possibly damaging Het
Mroh4 T A 15: 74,497,321 (GRCm39) K167* probably null Het
Mroh8 A G 2: 157,094,984 (GRCm39) I334T probably benign Het
Or51a25 T A 7: 102,373,574 (GRCm39) Y41F probably damaging Het
Phf11d T A 14: 59,602,898 (GRCm39) probably benign Het
Phf21a C T 2: 92,182,097 (GRCm39) T342I possibly damaging Het
Pira12 G T 7: 3,897,599 (GRCm39) H499N probably damaging Het
Plekhh3 T C 11: 101,055,591 (GRCm39) E483G possibly damaging Het
Ppp1r3b G A 8: 35,851,355 (GRCm39) A65T probably damaging Het
Pramel30 C T 4: 144,057,777 (GRCm39) T128I probably benign Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Pum1 T C 4: 130,496,158 (GRCm39) V961A probably damaging Het
Scgb2b27 T C 7: 33,711,561 (GRCm39) E96G probably benign Het
Sel1l2 T A 2: 140,086,025 (GRCm39) E522V probably damaging Het
Socs4 T G 14: 47,527,618 (GRCm39) C184W probably damaging Het
Spdye4c A T 2: 128,438,553 (GRCm39) I304F probably benign Het
Sptbn2 A G 19: 4,789,306 (GRCm39) I1249V possibly damaging Het
Sys1 T C 2: 164,306,507 (GRCm39) S154P probably benign Het
Tas2r107 A G 6: 131,636,875 (GRCm39) V58A possibly damaging Het
Thada T A 17: 84,744,062 (GRCm39) I749F probably damaging Het
Tubb1 T A 2: 174,299,567 (GRCm39) H416Q probably benign Het
Vmn2r109 G A 17: 20,760,981 (GRCm39) T792I probably damaging Het
Zfp988 A G 4: 147,416,259 (GRCm39) Q231R probably benign Het
Zmynd8 T C 2: 165,684,707 (GRCm39) I182V possibly damaging Het
Zzz3 T C 3: 152,133,788 (GRCm39) V282A 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
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
R5814:Taf6l UTSW 19 8,752,210 (GRCm39) missense probably benign 0.13
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'- AGGTCTCAACATGGCAGAATC -3'
(R):5'- CCTAGCTGACATGTCATGGTAC -3'

Sequencing Primer
(F):5'- GGTCTCAACATGGCAGAATCAAACAC -3'
(R):5'- GCAAGATATTAGTCTTTTGTCCCTTG -3'
Posted On 2017-06-26