Incidental Mutation 'R1804:Taf6l'
ID 203424
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 039834-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1804 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 8751851-8763781 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8750998 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 52 (L52Q)
Ref Sequence ENSEMBL: ENSMUSP00000010249 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003777] [ENSMUST00000010241] [ENSMUST00000010248] [ENSMUST00000010249] [ENSMUST00000176496] [ENSMUST00000177056] [ENSMUST00000177216] [ENSMUST00000176610] [ENSMUST00000184970] [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: 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 damaging
Transcript: ENSMUST00000010249
AA Change: L52Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000010249
Gene: ENSMUSG00000003680
AA Change: L52Q

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
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 noncoding transcript
Transcript: ENSMUST00000185056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183898
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176747
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176991
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176719
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: ENSMUST00000184826
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: 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 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: 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
Meta Mutation Damage Score 0.1275 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.7%
  • 10x: 94.5%
  • 20x: 89.8%
Validation Efficiency 96% (77/80)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik A G 1: 183,765,400 (GRCm39) Y220H probably benign Het
4930579C12Rik T C 9: 89,034,113 (GRCm39) noncoding transcript Het
Abcc8 T C 7: 45,769,903 (GRCm39) S871G probably benign Het
Acly T C 11: 100,406,731 (GRCm39) Y288C probably damaging Het
Adgrb1 T A 15: 74,401,389 (GRCm39) D128E probably damaging Het
Alms1 C T 6: 85,598,257 (GRCm39) Q1497* probably null Het
Bltp2 A G 11: 78,164,295 (GRCm39) H1165R probably damaging Het
Cacna1c G A 6: 118,664,007 (GRCm39) T688M probably damaging Het
Ccdc7a A T 8: 129,715,247 (GRCm39) L279* probably null Het
Cep135 A G 5: 76,784,779 (GRCm39) E958G probably benign Het
Clec4n G T 6: 123,206,981 (GRCm39) V2L possibly damaging Het
Col28a1 C T 6: 8,164,612 (GRCm39) probably null Het
Dcaf5 A G 12: 80,386,603 (GRCm39) S508P probably benign Het
Dlgap2 C A 8: 14,777,809 (GRCm39) N351K possibly damaging Het
Dnah8 T A 17: 30,927,381 (GRCm39) Y1346N probably benign Het
Dqx1 T C 6: 83,037,303 (GRCm39) V322A probably damaging Het
Ebf3 A C 7: 136,802,250 (GRCm39) L412V possibly damaging Het
Epha5 T C 5: 84,479,674 (GRCm39) N110S probably benign Het
Fcgbp T C 7: 27,785,564 (GRCm39) C334R probably benign Het
Glp1r T A 17: 31,149,687 (GRCm39) probably null Het
Gm4952 G T 19: 12,595,784 (GRCm39) R58L probably damaging Het
Gm7579 G A 7: 141,765,675 (GRCm39) C27Y unknown Het
Golm1 T A 13: 59,790,203 (GRCm39) probably null Het
Gucy2g T A 19: 55,198,741 (GRCm39) I801F probably benign Het
H2-D1 T C 17: 35,482,528 (GRCm39) Y83H probably damaging Het
Homez A T 14: 55,094,598 (GRCm39) I19N probably damaging Het
Hoxa5 T C 6: 52,179,628 (GRCm39) K249R probably damaging Het
Hsd17b4 A T 18: 50,311,051 (GRCm39) N550Y probably damaging Het
Ipo4 A T 14: 55,866,913 (GRCm39) N668K probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Klb A G 5: 65,537,196 (GRCm39) D842G probably damaging Het
Minar1 T A 9: 89,485,152 (GRCm39) M82L possibly damaging Het
Mmp21 G T 7: 133,280,611 (GRCm39) P120T probably benign Het
Mroh7 T A 4: 106,551,589 (GRCm39) I918F possibly damaging Het
Muc5b A G 7: 141,417,517 (GRCm39) T3488A possibly damaging Het
Npc1 C T 18: 12,356,145 (GRCm39) C42Y probably damaging Het
Ogdh A G 11: 6,288,565 (GRCm39) Y214C probably damaging Het
Or2q1 G A 6: 42,795,155 (GRCm39) C250Y possibly damaging Het
Or4k15c A T 14: 50,321,359 (GRCm39) W260R probably damaging Het
Or4k35 T C 2: 111,100,275 (GRCm39) M146V probably benign Het
Or5al1 G T 2: 85,990,417 (GRCm39) T99N probably benign Het
Or8d23 A G 9: 38,841,946 (GRCm39) T160A possibly damaging Het
Phtf1 A G 3: 103,894,883 (GRCm39) probably benign Het
Plb1 A G 5: 32,511,041 (GRCm39) N1302S possibly damaging Het
Prex2 A G 1: 11,202,566 (GRCm39) K492E probably damaging Het
Prkaa1 A G 15: 5,208,259 (GRCm39) D509G probably benign Het
Rims2 C T 15: 39,300,439 (GRCm39) Q57* probably null Het
Rnf40 T C 7: 127,195,120 (GRCm39) V411A possibly damaging Het
Rraga A G 4: 86,494,681 (GRCm39) I176V probably damaging Het
Rrm2 T C 12: 24,758,611 (GRCm39) I51T probably benign Het
Serpina3a T A 12: 104,084,675 (GRCm39) probably benign Het
Skint7 T C 4: 111,839,209 (GRCm39) W168R probably damaging Het
Slc27a4 A G 2: 29,701,279 (GRCm39) M357V probably benign Het
Slc4a3 A G 1: 75,528,361 (GRCm39) H452R probably damaging Het
Smc1b A T 15: 85,011,991 (GRCm39) I127K possibly damaging Het
Snap91 T A 9: 86,665,470 (GRCm39) M383L probably benign Het
Tas1r3 G A 4: 155,944,927 (GRCm39) R765C probably damaging Het
Tas2r124 A G 6: 132,732,488 (GRCm39) I266V probably benign Het
Tesk2 T C 4: 116,657,818 (GRCm39) probably benign Het
Tmem131l T G 3: 83,817,786 (GRCm39) Q1237P possibly damaging Het
Tmem67 A G 4: 12,045,789 (GRCm39) probably null Het
Tnfaip8 T A 18: 50,223,728 (GRCm39) C179S probably damaging Het
Ush2a G A 1: 188,365,926 (GRCm39) probably null Het
Vps13b A T 15: 35,917,283 (GRCm39) E3709V probably damaging Het
Wdr7 A T 18: 63,998,511 (GRCm39) S1153C probably damaging Het
Zc2hc1b A C 10: 13,047,012 (GRCm39) probably benign Het
Zfp438 A G 18: 5,213,689 (GRCm39) I423T probably damaging Het
Zfp592 C A 7: 80,673,443 (GRCm39) P136T probably damaging Het
Zfp783 T A 6: 47,922,819 (GRCm39) noncoding transcript Het
Zfp804b A T 5: 6,821,756 (GRCm39) S400T possibly 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
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
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'- TCGGAGCCCTATAGAACCTCTG -3'
(R):5'- CCAGCAGATCCATCAGTCTC -3'

Sequencing Primer
(F):5'- AACAAGCTTGGTGGCCG -3'
(R):5'- CCCCGTTCATCTCAACTTGTGAAC -3'
Posted On 2014-06-23