Incidental Mutation 'IGL01620:Taf3'
| ID |
92545 |
| 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 # |
IGL01620
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
9919363-10053407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 9957472 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 232
(R232S)
|
| 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 benign
Transcript: ENSMUST00000026888
AA Change: R232S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: R232S
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114909
AA Change: R79S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110559
Gene: ENSMUSG00000025782
AA Change: R79S
| Domain | Start | End | E-Value | Type |
|---|
|
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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aaas |
A |
T |
15: 102,248,385 (GRCm39) |
V277D |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,010,218 (GRCm39) |
V325D |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,741,757 (GRCm39) |
|
probably null |
Het |
| Ano9 |
A |
G |
7: 140,690,352 (GRCm39) |
L94P |
probably damaging |
Het |
| Atad3a |
G |
T |
4: 155,830,535 (GRCm39) |
T521K |
probably damaging |
Het |
| Bckdk |
A |
G |
7: 127,504,948 (GRCm39) |
K126E |
possibly damaging |
Het |
| Bdp1 |
A |
T |
13: 100,220,713 (GRCm39) |
|
probably benign |
Het |
| Btbd17 |
T |
C |
11: 114,686,599 (GRCm39) |
T26A |
probably benign |
Het |
| Cadps2 |
G |
A |
6: 23,587,461 (GRCm39) |
S314L |
probably benign |
Het |
| Ccl8 |
A |
T |
11: 82,007,435 (GRCm39) |
Q90L |
probably damaging |
Het |
| Chit1 |
T |
C |
1: 134,078,257 (GRCm39) |
V355A |
probably damaging |
Het |
| Col17a1 |
A |
G |
19: 47,656,978 (GRCm39) |
I555T |
possibly damaging |
Het |
| Dmwd |
T |
A |
7: 18,815,159 (GRCm39) |
|
probably null |
Het |
| Dtna |
T |
C |
18: 23,758,144 (GRCm39) |
I483T |
probably damaging |
Het |
| Eloc |
T |
A |
1: 16,713,502 (GRCm39) |
|
probably benign |
Het |
| Emc7 |
T |
A |
2: 112,295,119 (GRCm39) |
L177H |
probably damaging |
Het |
| Emsy |
T |
A |
7: 98,275,831 (GRCm39) |
K352I |
probably damaging |
Het |
| Ermn |
T |
C |
2: 57,942,502 (GRCm39) |
E76G |
probably benign |
Het |
| Flot1 |
A |
T |
17: 36,140,763 (GRCm39) |
E203V |
possibly damaging |
Het |
| Hsd11b2 |
A |
G |
8: 106,249,529 (GRCm39) |
K266R |
probably benign |
Het |
| Iqck |
A |
T |
7: 118,476,901 (GRCm39) |
K154M |
probably damaging |
Het |
| Itgb5 |
T |
A |
16: 33,740,168 (GRCm39) |
V426E |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,839,384 (GRCm39) |
D359G |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 47,018,296 (GRCm39) |
K53R |
probably benign |
Het |
| Klhl2 |
A |
T |
8: 65,232,772 (GRCm39) |
H168Q |
probably damaging |
Het |
| Lpcat2b |
T |
C |
5: 107,581,759 (GRCm39) |
Y363H |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,488,225 (GRCm39) |
N290K |
probably damaging |
Het |
| Map2k3 |
T |
C |
11: 60,840,873 (GRCm39) |
F301L |
possibly damaging |
Het |
| Mns1 |
A |
G |
9: 72,364,195 (GRCm39) |
|
probably benign |
Het |
| Nos1 |
A |
G |
5: 118,043,374 (GRCm39) |
|
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,550 (GRCm39) |
C179S |
probably damaging |
Het |
| Or52h7 |
T |
A |
7: 104,214,220 (GRCm39) |
V264D |
probably damaging |
Het |
| Pask |
A |
T |
1: 93,237,844 (GRCm39) |
H1374Q |
possibly damaging |
Het |
| Pik3r1 |
G |
A |
13: 101,822,728 (GRCm39) |
A658V |
probably damaging |
Het |
| Ppp2r2a |
A |
T |
14: 67,307,726 (GRCm39) |
F14I |
probably damaging |
Het |
| Ptprc |
C |
T |
1: 137,996,148 (GRCm39) |
E904K |
possibly damaging |
Het |
| Rab11fip4 |
G |
T |
11: 79,582,705 (GRCm39) |
D591Y |
possibly damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,523 (GRCm39) |
T29A |
probably benign |
Het |
| Rgs19 |
A |
G |
2: 181,331,381 (GRCm39) |
V84A |
possibly damaging |
Het |
| Shisa6 |
T |
G |
11: 66,108,705 (GRCm39) |
M391L |
probably benign |
Het |
| Sipa1l1 |
G |
A |
12: 82,469,263 (GRCm39) |
G1254D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,895,059 (GRCm39) |
Y358* |
probably null |
Het |
| Terb2 |
T |
A |
2: 122,035,338 (GRCm39) |
H186Q |
possibly damaging |
Het |
| Trav13n-4 |
T |
C |
14: 53,601,473 (GRCm39) |
S81P |
probably damaging |
Het |
| Trim30d |
G |
T |
7: 104,121,333 (GRCm39) |
P321T |
possibly damaging |
Het |
| Tyrp1 |
G |
T |
4: 80,763,039 (GRCm39) |
G309* |
probably null |
Het |
| Vps13d |
C |
A |
4: 144,821,437 (GRCm39) |
G2979V |
possibly damaging |
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 |
|
IGL02084:Taf3
|
APN |
2 |
10,047,330 (GRCm39) |
missense |
probably benign |
0.08 |
|
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 |
2013-12-09 |
Incidental Mutation