Incidental Mutation 'IGL02229:Taf3'
ID 285416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Taf3
Ensembl Gene ENSMUSG00000025782
Gene Name TATA-box binding protein associated factor 3
Synonyms 4933439M23Rik, mTAFII140
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # IGL02229
Quality Score
Status
Chromosome 2
Chromosomal Location 9919363-10053407 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9957645 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 174 (N174S)
Ref Sequence ENSEMBL: ENSMUSP00000026888 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026888] [ENSMUST00000114909]
AlphaFold Q5HZG4
PDB Structure Solution structure of the free TAF3 PHD domain [SOLUTION NMR]
Solution structure of the TAF3 PHD domain in complex with a H3K4me3 peptide [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000026888
AA Change: N174S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: N174S

DomainStartEndE-ValueType
BTP 3 79 1.94e-34 SMART
low complexity region 159 173 N/A INTRINSIC
low complexity region 237 253 N/A INTRINSIC
low complexity region 306 325 N/A INTRINSIC
low complexity region 404 423 N/A INTRINSIC
low complexity region 447 461 N/A INTRINSIC
low complexity region 487 505 N/A INTRINSIC
coiled coil region 519 572 N/A INTRINSIC
coiled coil region 611 651 N/A INTRINSIC
coiled coil region 692 751 N/A INTRINSIC
low complexity region 779 790 N/A INTRINSIC
low complexity region 795 821 N/A INTRINSIC
low complexity region 826 837 N/A INTRINSIC
PHD 869 915 4.77e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000114909
AA Change: N21S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110559
Gene: ENSMUSG00000025782
AA Change: N21S

DomainStartEndE-ValueType
low complexity region 6 20 N/A INTRINSIC
low complexity region 84 100 N/A INTRINSIC
low complexity region 153 172 N/A INTRINSIC
low complexity region 251 270 N/A INTRINSIC
low complexity region 294 308 N/A INTRINSIC
low complexity region 334 352 N/A INTRINSIC
coiled coil region 366 419 N/A INTRINSIC
coiled coil region 458 498 N/A INTRINSIC
coiled coil region 539 598 N/A INTRINSIC
low complexity region 626 637 N/A INTRINSIC
low complexity region 642 668 N/A INTRINSIC
low complexity region 673 684 N/A INTRINSIC
PHD 716 762 4.77e-11 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).[supplied by OMIM, May 2009]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik A G 5: 64,055,696 (GRCm39) D144G probably damaging Het
Adgrg1 G T 8: 95,730,139 (GRCm39) D114Y probably damaging Het
Ago4 T A 4: 126,405,325 (GRCm39) N416I probably benign Het
Aoc1 C T 6: 48,882,843 (GRCm39) Q240* probably null Het
Atl1 G A 12: 69,972,799 (GRCm39) V40I probably benign Het
Cdh2 T C 18: 16,757,810 (GRCm39) I591V probably benign Het
Cic C A 7: 24,990,375 (GRCm39) Q1959K probably damaging Het
Cmya5 C T 13: 93,229,194 (GRCm39) E1965K possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Cspp1 T C 1: 10,153,781 (GRCm39) S397P probably damaging Het
D130043K22Rik T C 13: 25,059,907 (GRCm39) Y593H probably damaging Het
Dck A G 5: 88,921,964 (GRCm39) Y142C probably damaging Het
Eea1 A T 10: 95,854,046 (GRCm39) E568V probably damaging Het
Gabra3 A G X: 71,544,683 (GRCm39) probably null Het
Gucy2f A G X: 140,962,984 (GRCm39) S342P probably benign Het
Hbb-bh1 T A 7: 103,492,032 (GRCm39) I61F possibly damaging Het
Hook1 T C 4: 95,889,488 (GRCm39) S235P possibly damaging Het
Hoxd12 G A 2: 74,506,278 (GRCm39) R230H probably damaging Het
Iglc2 C T 16: 19,017,483 (GRCm39) A41T probably benign Het
Il1r1 A G 1: 40,352,518 (GRCm39) K566E probably damaging Het
Kcns3 A T 12: 11,142,093 (GRCm39) M202K probably damaging Het
Krt7 C A 15: 101,325,497 (GRCm39) A442D probably benign Het
Ltk C T 2: 119,589,054 (GRCm39) R200H probably benign Het
Macf1 G T 4: 123,403,619 (GRCm39) D582E probably damaging Het
Mbnl3 A T X: 50,228,218 (GRCm39) Y69N probably damaging Het
Mpp1 T C X: 74,165,034 (GRCm39) probably benign Het
Myo18b A G 5: 113,025,976 (GRCm39) S25P unknown Het
Nsd3 A G 8: 26,200,775 (GRCm39) N1289S probably damaging Het
Or8d1 T A 9: 38,766,712 (GRCm39) M118K possibly damaging Het
Pacs2 A G 12: 113,020,420 (GRCm39) probably benign Het
Rab3gap2 A G 1: 184,991,580 (GRCm39) K689E possibly damaging Het
Sva T A 6: 42,019,156 (GRCm39) C109S probably damaging Het
Tbc1d5 A T 17: 51,159,628 (GRCm39) M393K probably damaging Het
Tmem242 A T 17: 5,461,682 (GRCm39) S129T probably benign Het
Ttn A T 2: 76,701,513 (GRCm39) probably benign Het
Other mutations in Taf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00839:Taf3 APN 2 9,957,728 (GRCm39) missense probably damaging 1.00
IGL01620:Taf3 APN 2 9,957,472 (GRCm39) missense probably benign 0.00
IGL02084:Taf3 APN 2 10,047,330 (GRCm39) missense probably benign 0.08
IGL02891:Taf3 APN 2 9,926,038 (GRCm39) missense probably damaging 1.00
IGL03173:Taf3 APN 2 9,957,738 (GRCm39) missense probably damaging 0.99
IGL03302:Taf3 APN 2 9,956,942 (GRCm39) missense probably damaging 1.00
Bathtub UTSW 2 9,956,469 (GRCm39) missense possibly damaging 0.89
Howard UTSW 2 9,955,971 (GRCm39) missense probably damaging 0.99
President UTSW 2 9,956,164 (GRCm39) missense probably damaging 0.98
R0344:Taf3 UTSW 2 9,956,709 (GRCm39) missense probably benign 0.05
R0348:Taf3 UTSW 2 10,047,455 (GRCm39) missense probably benign 0.05
R0506:Taf3 UTSW 2 9,945,804 (GRCm39) missense probably benign 0.00
R1724:Taf3 UTSW 2 9,957,177 (GRCm39) missense probably benign 0.01
R2151:Taf3 UTSW 2 9,956,377 (GRCm39) missense possibly damaging 0.82
R2154:Taf3 UTSW 2 9,956,377 (GRCm39) missense possibly damaging 0.82
R2495:Taf3 UTSW 2 9,957,644 (GRCm39) missense probably damaging 1.00
R3702:Taf3 UTSW 2 9,957,372 (GRCm39) missense possibly damaging 0.74
R3739:Taf3 UTSW 2 9,956,469 (GRCm39) missense possibly damaging 0.89
R3921:Taf3 UTSW 2 10,053,109 (GRCm39) missense probably benign 0.06
R4097:Taf3 UTSW 2 9,957,178 (GRCm39) missense possibly damaging 0.54
R4602:Taf3 UTSW 2 9,957,468 (GRCm39) missense probably damaging 0.96
R4615:Taf3 UTSW 2 9,956,901 (GRCm39) missense probably damaging 1.00
R4679:Taf3 UTSW 2 10,053,375 (GRCm39) utr 5 prime probably benign
R4789:Taf3 UTSW 2 9,956,770 (GRCm39) missense probably damaging 1.00
R4801:Taf3 UTSW 2 9,955,934 (GRCm39) missense possibly damaging 0.72
R4802:Taf3 UTSW 2 9,955,934 (GRCm39) missense possibly damaging 0.72
R5201:Taf3 UTSW 2 9,956,995 (GRCm39) missense probably damaging 1.00
R5522:Taf3 UTSW 2 9,945,816 (GRCm39) missense probably damaging 1.00
R5629:Taf3 UTSW 2 9,922,989 (GRCm39) missense probably damaging 1.00
R6427:Taf3 UTSW 2 9,956,164 (GRCm39) missense probably damaging 0.98
R6492:Taf3 UTSW 2 9,955,971 (GRCm39) missense probably damaging 0.99
R6804:Taf3 UTSW 2 9,923,028 (GRCm39) missense possibly damaging 0.91
R7282:Taf3 UTSW 2 9,956,253 (GRCm39) missense probably damaging 0.96
R7293:Taf3 UTSW 2 9,956,901 (GRCm39) missense probably damaging 0.98
R7368:Taf3 UTSW 2 9,921,188 (GRCm39) missense unknown
R7637:Taf3 UTSW 2 9,945,804 (GRCm39) missense probably benign 0.00
R7686:Taf3 UTSW 2 9,956,299 (GRCm39) missense probably damaging 1.00
R8251:Taf3 UTSW 2 9,922,962 (GRCm39) missense possibly damaging 0.92
R9167:Taf3 UTSW 2 9,945,804 (GRCm39) missense probably benign 0.00
R9402:Taf3 UTSW 2 9,955,923 (GRCm39) critical splice donor site probably null
R9621:Taf3 UTSW 2 9,923,070 (GRCm39) missense unknown
Posted On 2015-04-16