Incidental Mutation 'IGL02983:Taf6'
ID 406623
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf6
Ensembl Gene ENSMUSG00000036980
Gene Name TATA-box binding protein associated factor 6
Synonyms Taf2e, p80, 80kDa
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02983
Quality Score
Status
Chromosome 5
Chromosomal Location 138178617-138187451 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 138178880 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 642 (T642A)
Ref Sequence ENSEMBL: ENSMUSP00000106561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019662] [ENSMUST00000048698] [ENSMUST00000110936] [ENSMUST00000110937] [ENSMUST00000123415] [ENSMUST00000143241] [ENSMUST00000151318] [ENSMUST00000153117]
AlphaFold Q62311
Predicted Effect probably benign
Transcript: ENSMUST00000019662
SMART Domains Protein: ENSMUSP00000019662
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 142 2e-49 SMART
Pfam:Adap_comp_sub 173 449 2.5e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048698
AA Change: T642A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
AA Change: T642A

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
low complexity region 142 161 N/A INTRINSIC
low complexity region 179 197 N/A INTRINSIC
Pfam:DUF1546 308 399 1e-35 PFAM
low complexity region 466 476 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 542 578 N/A INTRINSIC
low complexity region 586 602 N/A INTRINSIC
low complexity region 615 646 N/A INTRINSIC
low complexity region 665 676 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110936
AA Change: T642A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
AA Change: T642A

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
low complexity region 142 161 N/A INTRINSIC
low complexity region 179 197 N/A INTRINSIC
Pfam:TAF6_C 308 397 1.1e-33 PFAM
low complexity region 466 476 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 542 578 N/A INTRINSIC
low complexity region 586 602 N/A INTRINSIC
low complexity region 615 646 N/A INTRINSIC
low complexity region 665 676 N/A INTRINSIC
Predicted Effect silent
Transcript: ENSMUST00000110937
SMART Domains Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
low complexity region 142 161 N/A INTRINSIC
low complexity region 179 197 N/A INTRINSIC
Pfam:DUF1546 308 399 1.9e-36 PFAM
low complexity region 466 476 N/A INTRINSIC
low complexity region 523 535 N/A INTRINSIC
low complexity region 542 549 N/A INTRINSIC
low complexity region 559 576 N/A INTRINSIC
low complexity region 606 615 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123415
SMART Domains Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
low complexity region 142 161 N/A INTRINSIC
low complexity region 179 197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130473
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134100
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142687
Predicted Effect probably benign
Transcript: ENSMUST00000143241
SMART Domains Protein: ENSMUSP00000123770
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
SCOP:d1gw5m2 1 86 2e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151318
SMART Domains Protein: ENSMUSP00000121338
Gene: ENSMUSG00000019518

DomainStartEndE-ValueType
Pfam:Clat_adaptor_s 47 153 3.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153117
SMART Domains Protein: ENSMUSP00000138335
Gene: ENSMUSG00000036980

DomainStartEndE-ValueType
TAF 12 78 1.44e-35 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155745
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157031
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 smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010]
PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik A G 19: 5,503,181 F191L possibly damaging Het
Abca13 A G 11: 9,290,663 N842S probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Brip1 T C 11: 86,139,124 I565V probably benign Het
Camta2 C T 11: 70,672,022 R959Q probably damaging Het
Cbln2 A G 18: 86,713,379 E104G probably benign Het
Cdc42ep4 T C 11: 113,729,169 K132R probably benign Het
Clcnka T A 4: 141,390,131 I452F probably damaging Het
Clec4a3 T A 6: 122,967,567 probably null Het
Crat A C 2: 30,404,526 probably null Het
Cspp1 A G 1: 10,127,525 K227R probably benign Het
Ddx1 A T 12: 13,223,862 I588N probably damaging Het
Dip2b G T 15: 100,132,022 R98L possibly damaging Het
Dock5 G A 14: 67,764,670 P1617L probably damaging Het
Fa2h C T 8: 111,346,522 probably null Het
Fezf1 T A 6: 23,247,872 N68I probably damaging Het
Gabrb2 A T 11: 42,421,400 L17F probably benign Het
Gm17078 T C 14: 51,611,190 K30R probably benign Het
Gramd4 G A 15: 86,127,018 V249M probably damaging Het
Kcnd2 A C 6: 21,216,555 D86A probably damaging Het
Lrp1 T C 10: 127,550,199 E3486G probably damaging Het
Ltb A G 17: 35,194,670 D50G probably benign Het
Med18 A T 4: 132,459,686 Y167* probably null Het
Nat14 G A 7: 4,924,128 A100T probably damaging Het
Nxph2 T C 2: 23,400,362 V242A probably damaging Het
Olfr338 T A 2: 36,377,637 I287N probably damaging Het
Olfr443-ps1 T C 6: 43,094,648 noncoding transcript Het
Olfr54 T C 11: 51,027,380 V126A probably damaging Het
Olfr818 T A 10: 129,945,189 N291I probably damaging Het
Pramef20 T C 4: 144,373,127 E356G probably benign Het
Rad21l A G 2: 151,655,120 L358S probably damaging Het
Rasgef1c A G 11: 49,957,049 T4A possibly damaging Het
Spata31d1a A G 13: 59,703,694 S207P possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Szt2 T C 4: 118,365,779 probably benign Het
Tmem30a A T 9: 79,771,443 M277K possibly damaging Het
Vmn1r86 T C 7: 13,102,814 D45G probably damaging Het
Xkr5 T C 8: 18,933,832 I565V probably benign Het
Zfp526 C T 7: 25,224,415 A33V probably benign Het
Other mutations in Taf6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02208:Taf6 APN 5 138180907 missense probably damaging 1.00
IGL02445:Taf6 APN 5 138184494 utr 5 prime probably benign
IGL02734:Taf6 APN 5 138183856 missense possibly damaging 0.82
IGL02861:Taf6 APN 5 138183885 missense probably damaging 1.00
PIT4515001:Taf6 UTSW 5 138182242 missense probably benign 0.32
R0189:Taf6 UTSW 5 138182713 missense probably benign 0.00
R0344:Taf6 UTSW 5 138181147 missense probably benign 0.09
R0567:Taf6 UTSW 5 138183726 splice site probably null
R1082:Taf6 UTSW 5 138182687 missense possibly damaging 0.92
R2375:Taf6 UTSW 5 138182201 nonsense probably null
R4466:Taf6 UTSW 5 138181201 splice site probably benign
R4845:Taf6 UTSW 5 138182647 missense possibly damaging 0.83
R4959:Taf6 UTSW 5 138183203 nonsense probably null
R4973:Taf6 UTSW 5 138183203 nonsense probably null
R5059:Taf6 UTSW 5 138179447 missense probably benign 0.15
R5232:Taf6 UTSW 5 138179952 missense possibly damaging 0.80
R7211:Taf6 UTSW 5 138178826 missense possibly damaging 0.53
R7505:Taf6 UTSW 5 138179945 nonsense probably null
R7776:Taf6 UTSW 5 138182020 missense probably damaging 1.00
R8163:Taf6 UTSW 5 138181976 missense possibly damaging 0.83
R8278:Taf6 UTSW 5 138179835 missense probably benign 0.12
R8464:Taf6 UTSW 5 138182662 missense probably damaging 1.00
R8910:Taf6 UTSW 5 138184454 missense probably benign 0.06
R9074:Taf6 UTSW 5 138182203 missense probably damaging 1.00
R9157:Taf6 UTSW 5 138180959 missense possibly damaging 0.73
R9161:Taf6 UTSW 5 138179898 missense probably benign 0.00
R9254:Taf6 UTSW 5 138183690 missense possibly damaging 0.59
R9379:Taf6 UTSW 5 138183690 missense possibly damaging 0.59
X0019:Taf6 UTSW 5 138182200 critical splice donor site probably null
Posted On 2016-08-02