Incidental Mutation 'IGL02850:Taf5l'
ID 361812
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf5l
Ensembl Gene ENSMUSG00000038697
Gene Name TATA-box binding protein associated factor 5 like
Synonyms 1110005N04Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.960) question?
Stock # IGL02850
Quality Score
Status
Chromosome 8
Chromosomal Location 124723057-124748136 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 124730197 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 129 (V129A)
Ref Sequence ENSEMBL: ENSMUSP00000148808 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093039] [ENSMUST00000127664] [ENSMUST00000165628] [ENSMUST00000212010]
AlphaFold Q91WQ5
Predicted Effect probably benign
Transcript: ENSMUST00000093039
AA Change: V164A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000090726
Gene: ENSMUSG00000038697
AA Change: V164A

DomainStartEndE-ValueType
Pfam:TFIID_NTD2 61 195 8.4e-35 PFAM
WD40 257 296 6.66e-1 SMART
WD40 331 370 3.19e-7 SMART
WD40 373 412 5.95e-7 SMART
WD40 415 454 2.2e-10 SMART
WD40 457 496 1.2e-11 SMART
WD40 499 538 5.3e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000165628
AA Change: V164A

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000128710
Gene: ENSMUSG00000038697
AA Change: V164A

DomainStartEndE-ValueType
Pfam:TFIID_90kDa 55 196 1.2e-43 PFAM
WD40 257 296 6.66e-1 SMART
WD40 331 370 3.19e-7 SMART
WD40 373 412 5.95e-7 SMART
WD40 415 454 2.2e-10 SMART
WD40 457 496 1.2e-11 SMART
WD40 499 538 5.3e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211825
Predicted Effect possibly damaging
Transcript: ENSMUST00000212010
AA Change: V129A

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. 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. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,843,993 (GRCm39) Y229C probably damaging Het
Adgrd1 A G 5: 129,192,119 (GRCm39) D63G probably damaging Het
Ahnak A G 19: 8,979,960 (GRCm39) T415A probably benign Het
Antxr2 A G 5: 98,151,937 (GRCm39) V178A probably damaging Het
Ap1s1 A G 5: 137,070,634 (GRCm39) Y127H possibly damaging Het
Bbs2 A T 8: 94,803,710 (GRCm39) M510K probably benign Het
Cbfa2t2 A G 2: 154,377,090 (GRCm39) N591S probably damaging Het
Chd6 T A 2: 160,861,536 (GRCm39) R504* probably null Het
Cnpy3 A G 17: 47,054,217 (GRCm39) probably benign Het
Cntn2 T G 1: 132,446,114 (GRCm39) K824T probably benign Het
Cntnap3 T C 13: 64,905,223 (GRCm39) T853A probably damaging Het
Cog4 G A 8: 111,593,221 (GRCm39) G444D possibly damaging Het
Col18a1 A T 10: 76,932,300 (GRCm39) I510N probably damaging Het
Cxcr5 G A 9: 44,425,403 (GRCm39) R85W probably damaging Het
Cyth3 C A 5: 143,672,259 (GRCm39) T58K probably damaging Het
Dio3 T C 12: 110,245,970 (GRCm39) V102A probably damaging Het
Dmbx1 G A 4: 115,775,204 (GRCm39) R359C probably damaging Het
Fam3d C T 14: 8,361,475 (GRCm38) probably null Het
Fras1 C A 5: 96,926,034 (GRCm39) P3746Q probably damaging Het
Glt1d1 T A 5: 127,721,409 (GRCm39) M32K probably benign Het
Hunk A G 16: 90,229,460 (GRCm39) N31S probably damaging Het
Ints11 T C 4: 155,959,761 (GRCm39) S123P probably benign Het
Izumo2 T C 7: 44,358,339 (GRCm39) L58S probably damaging Het
Izumo4 A G 10: 80,540,032 (GRCm39) probably benign Het
Kcnh7 T A 2: 62,618,029 (GRCm39) K487* probably null Het
Lrp12 T C 15: 39,741,971 (GRCm39) Y248C probably damaging Het
Maco1 T C 4: 134,555,697 (GRCm39) K259E probably benign Het
Map3k4 T C 17: 12,490,801 (GRCm39) D210G probably damaging Het
Mast4 T C 13: 102,890,740 (GRCm39) D1038G probably damaging Het
Noa1 T C 5: 77,442,338 (GRCm39) T651A probably benign Het
Nop2 A C 6: 125,121,048 (GRCm39) K610T possibly damaging Het
Nop2 G T 6: 125,121,033 (GRCm39) G605V probably benign Het
Npvf G A 6: 50,629,670 (GRCm39) R107W probably benign Het
Or10ad1b A G 15: 98,125,232 (GRCm39) V98A probably benign Het
Or2h2c T C 17: 37,422,865 (GRCm39) N3S probably benign Het
Oxr1 A G 15: 41,718,329 (GRCm39) T775A probably damaging Het
P2ry13 C T 3: 59,117,029 (GRCm39) A250T probably damaging Het
Pcsk9 A T 4: 106,316,062 (GRCm39) V127E probably damaging Het
Piezo2 G A 18: 63,153,704 (GRCm39) S2547F probably benign Het
Pinx1 A G 14: 64,156,609 (GRCm39) T179A probably damaging Het
Pjvk T C 2: 76,488,795 (GRCm39) V322A possibly damaging Het
Pla2r1 T A 2: 60,332,413 (GRCm39) R476S probably benign Het
Polb A G 8: 23,138,277 (GRCm39) probably benign Het
Polg2 C T 11: 106,659,293 (GRCm39) D407N probably damaging Het
Pou5f2 G A 13: 78,173,178 (GRCm39) R40Q probably benign Het
Sctr T C 1: 119,972,393 (GRCm39) M193T possibly damaging Het
Sctr T A 1: 119,949,909 (GRCm39) C33S probably damaging Het
Sema5b T C 16: 35,480,885 (GRCm39) S819P probably benign Het
Setd1b C T 5: 123,286,652 (GRCm39) T566I unknown Het
Sptbn4 G A 7: 27,126,258 (GRCm39) R222C possibly damaging Het
Tmem163 C T 1: 127,427,984 (GRCm39) V201I probably benign Het
Ube3b T C 5: 114,544,310 (GRCm39) L569P probably damaging Het
Vwa3a A G 7: 120,372,515 (GRCm39) E301G probably benign Het
Wnk1 T C 6: 119,914,823 (GRCm39) I1660V probably benign Het
Zbtb22 T A 17: 34,135,987 (GRCm39) L44Q probably damaging Het
Zfp691 T C 4: 119,027,389 (GRCm39) D281G probably damaging Het
Zfy2 C T Y: 2,106,894 (GRCm39) G580D probably benign Het
Zfy2 T A Y: 2,117,188 (GRCm39) H213L probably benign Het
Other mutations in Taf5l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03371:Taf5l APN 8 124,724,725 (GRCm39) missense possibly damaging 0.52
Invalid UTSW 8 124,729,714 (GRCm39) critical splice donor site probably null
R0017:Taf5l UTSW 8 124,730,383 (GRCm39) missense probably damaging 1.00
R1708:Taf5l UTSW 8 124,736,509 (GRCm39) nonsense probably null
R1813:Taf5l UTSW 8 124,730,152 (GRCm39) missense probably damaging 1.00
R1861:Taf5l UTSW 8 124,724,729 (GRCm39) missense probably damaging 1.00
R1896:Taf5l UTSW 8 124,730,152 (GRCm39) missense probably damaging 1.00
R4570:Taf5l UTSW 8 124,724,289 (GRCm39) missense probably damaging 1.00
R4656:Taf5l UTSW 8 124,724,844 (GRCm39) missense probably benign
R5294:Taf5l UTSW 8 124,734,957 (GRCm39) missense probably benign 0.11
R5335:Taf5l UTSW 8 124,730,390 (GRCm39) missense probably damaging 1.00
R5480:Taf5l UTSW 8 124,736,559 (GRCm39) missense possibly damaging 0.78
R5905:Taf5l UTSW 8 124,729,714 (GRCm39) critical splice donor site probably null
R6028:Taf5l UTSW 8 124,729,714 (GRCm39) critical splice donor site probably null
R7105:Taf5l UTSW 8 124,729,951 (GRCm39) missense probably damaging 1.00
R8304:Taf5l UTSW 8 124,730,251 (GRCm39) missense probably benign 0.03
R8337:Taf5l UTSW 8 124,724,841 (GRCm39) missense probably benign 0.00
R8881:Taf5l UTSW 8 124,730,101 (GRCm39) missense possibly damaging 0.51
R9128:Taf5l UTSW 8 124,730,014 (GRCm39) missense probably benign
R9600:Taf5l UTSW 8 124,730,173 (GRCm39) missense
X0024:Taf5l UTSW 8 124,724,760 (GRCm39) missense probably benign 0.04
Z1088:Taf5l UTSW 8 124,724,077 (GRCm39) nonsense probably null
Z1176:Taf5l UTSW 8 124,724,101 (GRCm39) missense probably benign 0.06
Z1177:Taf5l UTSW 8 124,729,738 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18