Incidental Mutation 'IGL02084:Taf3'
| ID |
283449 |
| 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)
|
| Stock # |
IGL02084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
9919363-10053407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 10047330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 106
(V106D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026888]
|
| 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 benign
Transcript: ENSMUST00000026888
AA Change: V106D
PolyPhen 2
Score 0.083 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: V106D
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
G |
11: 110,021,423 (GRCm39) |
F1096L |
probably benign |
Het |
| Abcd2 |
T |
A |
15: 91,062,530 (GRCm39) |
|
probably null |
Het |
| Actr10 |
T |
C |
12: 71,001,423 (GRCm39) |
I210T |
probably damaging |
Het |
| Apoa5 |
A |
T |
9: 46,181,950 (GRCm39) |
D342V |
probably damaging |
Het |
| Bicra |
G |
A |
7: 15,721,663 (GRCm39) |
T618I |
probably benign |
Het |
| Birc6 |
C |
A |
17: 74,915,277 (GRCm39) |
Q1642K |
probably benign |
Het |
| Cenpn |
A |
G |
8: 117,667,634 (GRCm39) |
Y331C |
probably damaging |
Het |
| Clcn7 |
T |
A |
17: 25,376,899 (GRCm39) |
I624N |
probably benign |
Het |
| Eddm3b |
A |
T |
14: 51,354,087 (GRCm39) |
H25L |
unknown |
Het |
| Fam90a1a |
A |
G |
8: 22,449,313 (GRCm39) |
E19G |
probably benign |
Het |
| Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
| Fbxo41 |
A |
T |
6: 85,457,747 (GRCm39) |
|
probably null |
Het |
| Frem3 |
A |
G |
8: 81,339,072 (GRCm39) |
D455G |
possibly damaging |
Het |
| Gart |
T |
C |
16: 91,418,488 (GRCm39) |
Q86R |
probably benign |
Het |
| Gm45234 |
T |
C |
6: 124,724,658 (GRCm39) |
|
probably benign |
Het |
| Gm5431 |
C |
T |
11: 48,779,912 (GRCm39) |
D337N |
probably benign |
Het |
| Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
| Kcns3 |
C |
T |
12: 11,142,195 (GRCm39) |
R168Q |
probably damaging |
Het |
| Klra17 |
T |
A |
6: 129,808,556 (GRCm39) |
N226Y |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,326,396 (GRCm39) |
N2915D |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,353,167 (GRCm39) |
D1504G |
probably damaging |
Het |
| Mgat4d |
C |
T |
8: 84,095,610 (GRCm39) |
S295L |
possibly damaging |
Het |
| Mslnl |
T |
C |
17: 25,965,125 (GRCm39) |
V497A |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,555,137 (GRCm39) |
S920P |
probably damaging |
Het |
| Mynn |
C |
A |
3: 30,665,764 (GRCm39) |
H465Q |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,411,088 (GRCm39) |
E182G |
probably damaging |
Het |
| Ncln |
T |
C |
10: 81,324,430 (GRCm39) |
I417V |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,341,985 (GRCm39) |
C553* |
probably null |
Het |
| Or5k14 |
G |
A |
16: 58,693,399 (GRCm39) |
T38I |
probably damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,980 (GRCm39) |
Q24L |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,447,623 (GRCm39) |
I2257V |
probably damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,566,657 (GRCm39) |
S35T |
possibly damaging |
Het |
| Qrfprl |
T |
C |
6: 65,358,594 (GRCm39) |
V106A |
probably benign |
Het |
| Rnf213 |
T |
C |
11: 119,336,499 (GRCm39) |
V3291A |
probably benign |
Het |
| Runx2 |
C |
T |
17: 45,035,716 (GRCm39) |
A173T |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 11,807,648 (GRCm39) |
Y833* |
probably null |
Het |
| Setbp1 |
G |
A |
18: 78,900,625 (GRCm39) |
A1014V |
probably damaging |
Het |
| Slc25a38 |
A |
G |
9: 119,949,512 (GRCm39) |
|
probably benign |
Het |
| Stk4 |
A |
G |
2: 163,928,527 (GRCm39) |
T120A |
probably benign |
Het |
| Uchl5 |
A |
G |
1: 143,677,912 (GRCm39) |
I139V |
possibly damaging |
Het |
| Ung |
A |
G |
5: 114,268,637 (GRCm39) |
E25G |
probably benign |
Het |
| Wrn |
A |
G |
8: 33,775,207 (GRCm39) |
V619A |
probably benign |
Het |
|
| Other mutations in Taf3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL02229:Taf3
|
APN |
2 |
9,957,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
Incidental Mutation