Incidental Mutation 'IGL03366:Taf4'
ID 420101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf4
Ensembl Gene ENSMUSG00000039117
Gene Name TATA-box binding protein associated factor 4
Synonyms TAFII130, Taf2c1, TAFII135, Taf4a
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03366
Quality Score
Status
Chromosome 2
Chromosomal Location 179553945-179618439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 179576847 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 578 (V578A)
Ref Sequence ENSEMBL: ENSMUSP00000153863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041618] [ENSMUST00000227325]
AlphaFold E9QAP7
Predicted Effect probably damaging
Transcript: ENSMUST00000041618
AA Change: V578A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: V578A

DomainStartEndE-ValueType
low complexity region 28 44 N/A INTRINSIC
low complexity region 64 181 N/A INTRINSIC
SCOP:d1hqva_ 312 325 6e-3 SMART
low complexity region 339 371 N/A INTRINSIC
low complexity region 395 408 N/A INTRINSIC
low complexity region 428 443 N/A INTRINSIC
low complexity region 445 458 N/A INTRINSIC
internal_repeat_1 465 500 2.85e-5 PROSPERO
low complexity region 537 547 N/A INTRINSIC
TAFH 550 642 4.9e-54 SMART
internal_repeat_1 692 727 2.85e-5 PROSPERO
low complexity region 767 773 N/A INTRINSIC
Pfam:TAF4 791 1039 3.5e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000227325
AA Change: V578A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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 larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for deletions of this marker die embryonically sometime around E9.5. Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 T A 7: 141,209,186 (GRCm39) S793T probably benign Het
Btnl6 T C 17: 34,727,153 (GRCm39) D459G probably damaging Het
Cacna1g C A 11: 94,347,977 (GRCm39) D704Y probably damaging Het
Cby2 A G 14: 75,820,829 (GRCm39) S299P probably benign Het
Cry2 A G 2: 92,244,060 (GRCm39) I371T probably damaging Het
Dock3 A T 9: 106,882,632 (GRCm39) F384I probably benign Het
Dpp4 T C 2: 62,187,301 (GRCm39) probably null Het
Hecw1 G T 13: 14,552,382 (GRCm39) D72E probably damaging Het
Htt T A 5: 35,064,924 (GRCm39) W3046R probably damaging Het
Hydin A T 8: 110,993,995 (GRCm39) N10Y unknown Het
Ighv8-8 T A 12: 115,257,760 (GRCm39) T94S probably benign Het
Igkv4-58 A G 6: 69,477,538 (GRCm39) S20P probably damaging Het
Il4i1 T C 7: 44,486,919 (GRCm39) probably benign Het
Kif13a A T 13: 46,918,099 (GRCm39) S403T probably benign Het
Klhl40 T C 9: 121,612,446 (GRCm39) L616P probably damaging Het
Krt7 T C 15: 101,325,491 (GRCm39) L440P possibly damaging Het
Lpin1 A G 12: 16,594,678 (GRCm39) L755P probably damaging Het
Magee2 C A X: 103,899,134 (GRCm39) E506* probably null Het
Mast3 G A 8: 71,234,207 (GRCm39) R143* probably null Het
Med12 T A X: 100,321,695 (GRCm39) H459Q probably benign Het
Mmp3 T C 9: 7,450,149 (GRCm39) S294P probably benign Het
Muc6 T C 7: 141,234,349 (GRCm39) Y714C probably damaging Het
Myh2 T C 11: 67,074,349 (GRCm39) L662S probably damaging Het
Notch4 G T 17: 34,791,542 (GRCm39) C567F probably damaging Het
Nprl3 A G 11: 32,200,256 (GRCm39) I20T probably damaging Het
Or10ag2 A T 2: 87,248,587 (GRCm39) D65V possibly damaging Het
Pcdhb19 A G 18: 37,631,665 (GRCm39) T487A possibly damaging Het
Phlpp2 A G 8: 110,667,467 (GRCm39) E1332G probably benign Het
Pick1 T C 15: 79,125,481 (GRCm39) S113P probably damaging Het
Ptpru T C 4: 131,507,178 (GRCm39) E1023G probably damaging Het
Rspry1 A C 8: 95,376,962 (GRCm39) I382L probably benign Het
Sf3b3 A C 8: 111,566,586 (GRCm39) V248G probably damaging Het
Smg5 T A 3: 88,253,759 (GRCm39) Y126* probably null Het
Spin1 T C 13: 51,281,973 (GRCm39) V22A probably benign Het
Stab1 C T 14: 30,872,220 (GRCm39) R1189Q possibly damaging Het
Sytl5 A G X: 9,829,939 (GRCm39) D538G probably damaging Het
Taar7e T A 10: 23,913,813 (GRCm39) M101K probably damaging Het
Tmem266 G T 9: 55,344,517 (GRCm39) C383F probably benign Het
Trim34a T C 7: 103,910,140 (GRCm39) probably null Het
Vmn2r104 T C 17: 20,249,866 (GRCm39) T802A probably damaging Het
Vmn2r32 A C 7: 7,467,029 (GRCm39) I833S probably damaging Het
Vmn2r85 T C 10: 130,262,328 (GRCm39) D137G probably benign Het
Vps13c C T 9: 67,853,308 (GRCm39) S2467L probably benign Het
Other mutations in Taf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Taf4 APN 2 179,618,418 (GRCm39) missense unknown
IGL00517:Taf4 APN 2 179,566,206 (GRCm39) splice site probably benign
IGL02159:Taf4 APN 2 179,580,263 (GRCm39) missense probably benign 0.24
IGL02254:Taf4 APN 2 179,562,977 (GRCm39) missense probably benign 0.25
R0049:Taf4 UTSW 2 179,565,884 (GRCm39) missense probably damaging 0.98
R0049:Taf4 UTSW 2 179,565,884 (GRCm39) missense probably damaging 0.98
R1267:Taf4 UTSW 2 179,571,117 (GRCm39) missense possibly damaging 0.46
R1495:Taf4 UTSW 2 179,574,820 (GRCm39) missense probably damaging 1.00
R1560:Taf4 UTSW 2 179,577,746 (GRCm39) missense probably benign 0.14
R1756:Taf4 UTSW 2 179,618,324 (GRCm39) missense unknown
R1893:Taf4 UTSW 2 179,574,823 (GRCm39) missense probably damaging 0.98
R1932:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R2213:Taf4 UTSW 2 179,577,683 (GRCm39) critical splice donor site probably null
R3896:Taf4 UTSW 2 179,573,807 (GRCm39) missense probably benign 0.45
R4050:Taf4 UTSW 2 179,573,805 (GRCm39) missense probably damaging 1.00
R4448:Taf4 UTSW 2 179,577,764 (GRCm39) missense possibly damaging 0.65
R4736:Taf4 UTSW 2 179,566,287 (GRCm39) missense probably damaging 1.00
R5124:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R6155:Taf4 UTSW 2 179,555,317 (GRCm39) missense probably damaging 1.00
R6238:Taf4 UTSW 2 179,573,832 (GRCm39) missense probably damaging 0.97
R6292:Taf4 UTSW 2 179,565,780 (GRCm39) missense probably damaging 1.00
R7749:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7751:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7752:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7754:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7835:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7879:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7880:Taf4 UTSW 2 179,577,726 (GRCm39) nonsense probably null
R7880:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7883:Taf4 UTSW 2 179,571,088 (GRCm39) missense probably damaging 1.00
R7899:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7902:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R7905:Taf4 UTSW 2 179,573,822 (GRCm39) missense probably damaging 1.00
R9743:Taf4 UTSW 2 179,581,592 (GRCm39) missense possibly damaging 0.79
Posted On 2016-08-02