Incidental Mutation 'R1756:Taf4'
ID 266210
Institutional Source Beutler Lab
Gene Symbol Taf4
Ensembl Gene ENSMUSG00000039117
Gene Name TATA-box binding protein associated factor 4
Synonyms Taf4a, Taf2c1, TAFII130, TAFII135
MMRRC Submission 039788-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1756 (G1)
Quality Score 20.1
Status Validated
Chromosome 2
Chromosomal Location 179912152-179976646 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 179976531 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 39 (H39R)
Ref Sequence ENSEMBL: ENSMUSP00000153863 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041618] [ENSMUST00000227325]
AlphaFold E9QAP7
Predicted Effect unknown
Transcript: ENSMUST00000041618
AA Change: H39R
SMART Domains Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: H39R

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 noncoding transcript
Transcript: ENSMUST00000150145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153188
Predicted Effect unknown
Transcript: ENSMUST00000227325
AA Change: H39R
Meta Mutation Damage Score 0.1015 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.5%
  • 20x: 93.0%
Validation Efficiency 100% (96/96)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T A 13: 63,068,061 (GRCm38) H382Q possibly damaging Het
A330008L17Rik C A 8: 99,421,882 (GRCm38) noncoding transcript Het
Acin1 A G 14: 54,665,204 (GRCm38) V377A probably benign Het
Adam39 A T 8: 40,825,324 (GRCm38) I251F probably damaging Het
Adnp2 A T 18: 80,127,697 (GRCm38) *1166K probably null Het
Akap12 T A 10: 4,357,574 (GRCm38) D1461E probably benign Het
Apba1 A G 19: 23,893,692 (GRCm38) D296G possibly damaging Het
Apol7a G T 15: 77,393,471 (GRCm38) L26M possibly damaging Het
Bcl2 C T 1: 106,712,392 (GRCm38) M163I probably damaging Het
Cap2 T G 13: 46,531,013 (GRCm38) I53R probably benign Het
Ccdc105 T A 10: 78,747,197 (GRCm38) K451M probably damaging Het
Ccdc74a T C 16: 17,650,468 (GRCm38) V318A possibly damaging Het
Ccnb2 A G 9: 70,410,788 (GRCm38) V234A probably benign Het
Cd207 C T 6: 83,675,597 (GRCm38) V184I probably benign Het
Cdk12 C A 11: 98,241,761 (GRCm38) C1005* probably null Het
Cep83 T C 10: 94,750,267 (GRCm38) S344P probably damaging Het
Ces1g A T 8: 93,306,954 (GRCm38) Y447N probably benign Het
Cfap54 A T 10: 93,048,061 (GRCm38) L277Q probably damaging Het
Cfh A G 1: 140,100,877 (GRCm38) Y1027H probably damaging Het
Clcnkb T A 4: 141,415,214 (GRCm38) I28F possibly damaging Het
Clec4d A G 6: 123,267,109 (GRCm38) D59G probably damaging Het
Colq G A 14: 31,547,452 (GRCm38) P153S probably damaging Het
Crybg1 T A 10: 43,986,279 (GRCm38) T1500S probably damaging Het
Cyp2d34 T A 15: 82,617,524 (GRCm38) R262W probably damaging Het
Dennd4b C G 3: 90,271,605 (GRCm38) L559V probably damaging Het
Dhrs1 A G 14: 55,739,309 (GRCm38) V306A probably benign Het
Diaph1 A T 18: 37,854,573 (GRCm38) D1043E possibly damaging Het
Dis3 G T 14: 99,086,103 (GRCm38) D538E probably damaging Het
Dnaic2 T G 11: 114,750,380 (GRCm38) S344A probably benign Het
Dner C T 1: 84,445,590 (GRCm38) V431M probably damaging Het
Dnm1l A G 16: 16,342,695 (GRCm38) probably null Het
Eps15 T G 4: 109,312,918 (GRCm38) L139* probably null Het
Fam193a T A 5: 34,466,292 (GRCm38) I55N possibly damaging Het
Gm10308 T A 17: 91,088,957 (GRCm38) Y102* probably null Het
Gm10509 A G 17: 21,690,855 (GRCm38) K30E possibly damaging Het
Gm4778 A T 3: 94,266,218 (GRCm38) M174L probably benign Het
Gm9573 A T 17: 35,619,239 (GRCm38) probably benign Het
Gpr155 T C 2: 73,367,577 (GRCm38) M400V probably benign Het
H2-M10.2 T C 17: 36,286,123 (GRCm38) probably benign Het
Heatr1 G T 13: 12,396,460 (GRCm38) A61S probably benign Het
Helb G T 10: 120,094,242 (GRCm38) T744K probably damaging Het
Hmcn1 C A 1: 150,599,030 (GRCm38) W4702L probably damaging Het
Hmcn2 C T 2: 31,396,120 (GRCm38) R2095W probably damaging Het
Igfbp3 G C 11: 7,208,461 (GRCm38) D267E probably damaging Het
Ighmbp2 T A 19: 3,268,669 (GRCm38) H469L probably damaging Het
Kcnj3 A C 2: 55,437,220 (GRCm38) K7T probably damaging Het
Krtap5-5 T G 7: 142,229,621 (GRCm38) K97N unknown Het
Lcor T C 19: 41,559,266 (GRCm38) S430P probably benign Het
Lpin1 A G 12: 16,538,540 (GRCm38) V883A probably damaging Het
Lrp1b T C 2: 41,110,825 (GRCm38) Y2243C probably damaging Het
Lrrc46 G A 11: 97,034,730 (GRCm38) probably benign Het
Man1c1 G C 4: 134,703,438 (GRCm38) P11R probably damaging Het
Mpdz C T 4: 81,306,877 (GRCm38) V1438M possibly damaging Het
Ncbp1 T A 4: 46,169,131 (GRCm38) L635* probably null Het
Nipbl T C 15: 8,338,551 (GRCm38) N1202D possibly damaging Het
Nphs1 A G 7: 30,461,534 (GRCm38) D196G probably benign Het
Nupl1 A T 14: 60,244,670 (GRCm38) probably benign Het
Olfr1008 A G 2: 85,690,083 (GRCm38) Y218C probably damaging Het
Olfr1360 A G 13: 21,674,695 (GRCm38) I83T probably benign Het
Olfr901 A T 9: 38,430,995 (GRCm38) I238F probably benign Het
Pax8 A T 2: 24,435,821 (GRCm38) N350K probably damaging Het
Pik3cd T C 4: 149,658,750 (GRCm38) K298E probably benign Het
Pkd1 C T 17: 24,594,485 (GRCm38) R4000C probably damaging Het
Pkn2 A T 3: 142,810,727 (GRCm38) V546D possibly damaging Het
Plcg2 A G 8: 117,592,708 (GRCm38) K673E probably benign Het
Pld4 T G 12: 112,763,392 (GRCm38) probably null Het
Plek A T 11: 16,992,901 (GRCm38) N130K probably damaging Het
Prune2 G A 19: 17,123,704 (GRCm38) D2191N probably benign Het
Ptgis T C 2: 167,206,803 (GRCm38) Y431C probably damaging Het
Rhbdf2 T C 11: 116,607,266 (GRCm38) S36G probably benign Het
Rtn4ip1 C T 10: 43,910,830 (GRCm38) A178V probably damaging Het
Rxfp1 A G 3: 79,670,881 (GRCm38) S168P probably benign Het
Sec24a A G 11: 51,733,763 (GRCm38) probably benign Het
Shf G A 2: 122,368,682 (GRCm38) P51S probably damaging Het
Slitrk6 C T 14: 110,750,552 (GRCm38) M574I probably benign Het
Slk T C 19: 47,622,677 (GRCm38) F861L probably damaging Het
Smpd3 C A 8: 106,264,971 (GRCm38) A317S probably benign Het
Spz1 T A 13: 92,575,125 (GRCm38) Q281L probably damaging Het
Syde1 T A 10: 78,586,980 (GRCm38) R519S probably benign Het
Tbx5 A T 5: 119,845,113 (GRCm38) probably null Het
Tenm2 C T 11: 36,063,177 (GRCm38) G1236R possibly damaging Het
Th G A 7: 142,898,166 (GRCm38) Q19* probably null Het
Tmprss11a T A 5: 86,420,179 (GRCm38) I230F probably damaging Het
Tnfrsf14 T A 4: 154,925,322 (GRCm38) H50L possibly damaging Het
Tpp2 T A 1: 43,978,725 (GRCm38) probably null Het
Trappc9 G A 15: 73,025,967 (GRCm38) R377W probably damaging Het
Trim2 A G 3: 84,190,800 (GRCm38) I398T possibly damaging Het
Trpc5 A T X: 144,481,226 (GRCm38) S212T probably damaging Het
Ttn A G 2: 76,787,334 (GRCm38) probably benign Het
Unc80 A G 1: 66,639,248 (GRCm38) T2063A possibly damaging Het
Usp37 A T 1: 74,479,655 (GRCm38) S260T probably benign Het
Vcan A G 13: 89,691,681 (GRCm38) S1915P probably benign Het
Vmn1r33 T A 6: 66,612,298 (GRCm38) I91F possibly damaging Het
Zfp422 T C 6: 116,626,424 (GRCm38) T205A probably benign Het
Other mutations in Taf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Taf4 APN 2 179,976,625 (GRCm38) missense unknown
IGL00517:Taf4 APN 2 179,924,413 (GRCm38) splice site probably benign
IGL02159:Taf4 APN 2 179,938,470 (GRCm38) missense probably benign 0.24
IGL02254:Taf4 APN 2 179,921,184 (GRCm38) missense probably benign 0.25
IGL03366:Taf4 APN 2 179,935,054 (GRCm38) missense probably damaging 1.00
R0049:Taf4 UTSW 2 179,924,091 (GRCm38) missense probably damaging 0.98
R0049:Taf4 UTSW 2 179,924,091 (GRCm38) missense probably damaging 0.98
R1267:Taf4 UTSW 2 179,929,324 (GRCm38) missense possibly damaging 0.46
R1495:Taf4 UTSW 2 179,933,027 (GRCm38) missense probably damaging 1.00
R1560:Taf4 UTSW 2 179,935,953 (GRCm38) missense probably benign 0.14
R1893:Taf4 UTSW 2 179,933,030 (GRCm38) missense probably damaging 0.98
R1932:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R2213:Taf4 UTSW 2 179,935,890 (GRCm38) critical splice donor site probably null
R3896:Taf4 UTSW 2 179,932,014 (GRCm38) missense probably benign 0.45
R4050:Taf4 UTSW 2 179,932,012 (GRCm38) missense probably damaging 1.00
R4448:Taf4 UTSW 2 179,935,971 (GRCm38) missense possibly damaging 0.65
R4736:Taf4 UTSW 2 179,924,494 (GRCm38) missense probably damaging 1.00
R5124:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R6155:Taf4 UTSW 2 179,913,524 (GRCm38) missense probably damaging 1.00
R6238:Taf4 UTSW 2 179,932,039 (GRCm38) missense probably damaging 0.97
R6292:Taf4 UTSW 2 179,923,987 (GRCm38) missense probably damaging 1.00
R7749:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7751:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7752:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7754:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7835:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7879:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7880:Taf4 UTSW 2 179,935,933 (GRCm38) nonsense probably null
R7880:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7883:Taf4 UTSW 2 179,929,295 (GRCm38) missense probably damaging 1.00
R7899:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7902:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R7905:Taf4 UTSW 2 179,932,029 (GRCm38) missense probably damaging 1.00
R9743:Taf4 UTSW 2 179,939,799 (GRCm38) missense possibly damaging 0.79
Predicted Primers PCR Primer

Sequencing Primer
(R):5'- cccgcTGGAACCTCCTC -3'
Posted On 2015-02-06