Incidental Mutation 'R4242:Taf1'
ID 320273
Institutional Source Beutler Lab
Gene Symbol Taf1
Ensembl Gene ENSMUSG00000031314
Gene Name TATA-box binding protein associated factor 1
Synonyms Ccg1, B430306D02Rik, KAT4, Ccg-1, Taf2a
MMRRC Submission 041059-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R4242 (G1)
Quality Score 201
Status Validated
Chromosome X
Chromosomal Location 100576335-100644635 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100588109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 457 (I457T)
Ref Sequence ENSEMBL: ENSMUSP00000098895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101341] [ENSMUST00000118878] [ENSMUST00000143908] [ENSMUST00000149274]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000101341
AA Change: I457T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000098895
Gene: ENSMUSG00000031314
AA Change: I457T

DomainStartEndE-ValueType
Pfam:TBP-binding 23 86 3.1e-25 PFAM
low complexity region 138 153 N/A INTRINSIC
low complexity region 157 165 N/A INTRINSIC
low complexity region 183 191 N/A INTRINSIC
low complexity region 259 267 N/A INTRINSIC
low complexity region 549 565 N/A INTRINSIC
Pfam:DUF3591 592 1055 6.7e-171 PFAM
low complexity region 1111 1123 N/A INTRINSIC
coiled coil region 1132 1168 N/A INTRINSIC
coiled coil region 1244 1277 N/A INTRINSIC
Pfam:zf-CCHC_6 1293 1332 1e-18 PFAM
low complexity region 1373 1390 N/A INTRINSIC
BROMO 1410 1518 6.27e-32 SMART
BROMO 1532 1641 1.42e-39 SMART
low complexity region 1655 1666 N/A INTRINSIC
low complexity region 1668 1679 N/A INTRINSIC
low complexity region 1720 1734 N/A INTRINSIC
low complexity region 1751 1767 N/A INTRINSIC
low complexity region 1775 1789 N/A INTRINSIC
low complexity region 1856 1866 N/A INTRINSIC
low complexity region 1880 1888 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118878
SMART Domains Protein: ENSMUSP00000112772
Gene: ENSMUSG00000031314

DomainStartEndE-ValueType
Pfam:TBP-binding 22 87 1.4e-26 PFAM
low complexity region 138 153 N/A INTRINSIC
low complexity region 157 165 N/A INTRINSIC
low complexity region 183 191 N/A INTRINSIC
low complexity region 259 267 N/A INTRINSIC
low complexity region 522 538 N/A INTRINSIC
Pfam:DUF3591 565 1028 5.1e-158 PFAM
low complexity region 1084 1096 N/A INTRINSIC
coiled coil region 1105 1136 N/A INTRINSIC
coiled coil region 1212 1245 N/A INTRINSIC
Pfam:zf-CCHC_6 1261 1300 1.2e-17 PFAM
low complexity region 1341 1358 N/A INTRINSIC
BROMO 1378 1486 6.27e-32 SMART
BROMO 1500 1609 1.42e-39 SMART
low complexity region 1623 1634 N/A INTRINSIC
low complexity region 1636 1647 N/A INTRINSIC
low complexity region 1688 1702 N/A INTRINSIC
low complexity region 1719 1735 N/A INTRINSIC
low complexity region 1743 1757 N/A INTRINSIC
low complexity region 1824 1834 N/A INTRINSIC
low complexity region 1848 1856 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143908
SMART Domains Protein: ENSMUSP00000138159
Gene: ENSMUSG00000031314

DomainStartEndE-ValueType
Pfam:TBP-binding 22 87 3.1e-27 PFAM
low complexity region 138 153 N/A INTRINSIC
low complexity region 157 165 N/A INTRINSIC
low complexity region 185 212 N/A INTRINSIC
low complexity region 280 288 N/A INTRINSIC
low complexity region 543 559 N/A INTRINSIC
Pfam:DUF3591 586 1049 7.1e-159 PFAM
low complexity region 1105 1117 N/A INTRINSIC
coiled coil region 1126 1157 N/A INTRINSIC
coiled coil region 1233 1266 N/A INTRINSIC
Pfam:zf-CCHC_6 1282 1321 4.4e-18 PFAM
low complexity region 1362 1379 N/A INTRINSIC
BROMO 1399 1507 6.27e-32 SMART
BROMO 1521 1630 1.42e-39 SMART
low complexity region 1644 1655 N/A INTRINSIC
low complexity region 1657 1668 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149274
SMART Domains Protein: ENSMUSP00000114765
Gene: ENSMUSG00000031314

DomainStartEndE-ValueType
Pfam:TBP-binding 22 87 8.3e-28 PFAM
low complexity region 138 153 N/A INTRINSIC
low complexity region 157 165 N/A INTRINSIC
low complexity region 185 212 N/A INTRINSIC
low complexity region 280 288 N/A INTRINSIC
low complexity region 543 559 N/A INTRINSIC
Pfam:DUF3591 586 710 1.5e-28 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (35/35)
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 the basal transcription factor 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 the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 C T 5: 105,109,079 (GRCm39) R406H probably benign Het
Blcap T A 2: 157,402,343 (GRCm39) probably benign Het
Chd1 C T 17: 15,990,289 (GRCm39) R1614* probably null Het
Col6a2 C T 10: 76,443,940 (GRCm39) probably null Het
Csnk1e A G 15: 79,309,095 (GRCm39) F277S probably damaging Het
Dock5 T C 14: 68,065,939 (GRCm39) T355A probably benign Het
Dst G A 1: 34,045,297 (GRCm39) C148Y possibly damaging Het
Faim2 T A 15: 99,398,082 (GRCm39) I289F probably damaging Het
Gm4841 A G 18: 60,403,755 (GRCm39) S113P probably benign Het
Heatr5b A G 17: 79,064,351 (GRCm39) S1879P probably benign Het
Igll1 C A 16: 16,681,564 (GRCm39) G64C probably benign Het
Klhdc7a G A 4: 139,694,032 (GRCm39) P305L probably benign Het
Klhl13 T A X: 23,181,414 (GRCm39) D2V probably damaging Het
Kmt2e T C 5: 23,707,820 (GRCm39) probably benign Het
Lrmda C A 14: 22,077,303 (GRCm39) Y13* probably null Het
Mad2l1bp T C 17: 46,463,913 (GRCm39) E37G possibly damaging Het
Mphosph8 T C 14: 56,911,771 (GRCm39) S265P probably benign Het
Mpl T A 4: 118,313,968 (GRCm39) D99V probably damaging Het
Notch3 C T 17: 32,362,719 (GRCm39) G1302D possibly damaging Het
Odaph A G 5: 92,142,749 (GRCm39) I104V probably benign Het
Or10a48 A G 7: 108,424,666 (GRCm39) V180A probably benign Het
Or2a25 A T 6: 42,888,480 (GRCm39) I8F possibly damaging Het
Pde6c G A 19: 38,151,293 (GRCm39) G608S probably damaging Het
Phf20 A G 2: 156,149,374 (GRCm39) probably benign Het
Pkdrej C T 15: 85,702,345 (GRCm39) R1197Q probably damaging Het
Prex2 C T 1: 11,226,528 (GRCm39) H764Y probably benign Het
Rtel1 T C 2: 180,991,727 (GRCm39) F375S probably damaging Het
Spanxn4 T C 12: 62,734,983 (GRCm39) noncoding transcript Het
Tle3 A T 9: 61,314,705 (GRCm39) M233L probably benign Het
Trpv3 T C 11: 73,168,649 (GRCm39) I72T probably benign Het
Vmn1r237 A G 17: 21,534,925 (GRCm39) H216R possibly damaging Het
Xpnpep3 T A 15: 81,311,857 (GRCm39) F188I probably benign Het
Zfp69 G A 4: 120,791,672 (GRCm39) probably benign Het
Other mutations in Taf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00688:Taf1 APN X 100,606,545 (GRCm39) missense probably damaging 0.99
IGL01519:Taf1 APN X 100,606,412 (GRCm39) splice site probably benign
R1768:Taf1 UTSW X 100,584,500 (GRCm39) missense probably benign 0.37
R1867:Taf1 UTSW X 100,606,563 (GRCm39) missense probably damaging 1.00
R4491:Taf1 UTSW X 100,586,665 (GRCm39) missense possibly damaging 0.93
R4492:Taf1 UTSW X 100,586,665 (GRCm39) missense possibly damaging 0.93
R4582:Taf1 UTSW X 100,637,601 (GRCm39) missense possibly damaging 0.51
Z1176:Taf1 UTSW X 100,639,850 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TTCTGAGAGAAAGTGAAATGCTTC -3'
(R):5'- AACAGCATTGTAACACTGAACTTG -3'

Sequencing Primer
(F):5'- TGAGAGAAAGTGAAATGCTTCAAATC -3'
(R):5'- CCAGGTTAGCTTCAGTTACAGAGC -3'
Posted On 2015-06-12