Incidental Mutation 'R3739:Taf3'
| ID |
270270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf3
|
| Ensembl Gene |
ENSMUSG00000025782 |
| Gene Name |
TATA-box binding protein associated factor 3 |
| Synonyms |
4933439M23Rik, mTAFII140 |
| MMRRC Submission |
040725-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R3739 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
9919363-10053407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9956469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 566
(E566G)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026888
AA Change: E566G
PolyPhen 2
Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: E566G
| 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 |
possibly damaging
Transcript: ENSMUST00000114909
AA Change: E413G
PolyPhen 2
Score 0.525 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110559
Gene: ENSMUSG00000025782
AA Change: E413G
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (49/50) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,108 (GRCm39) |
L775* |
probably null |
Het |
| Abcb8 |
A |
G |
5: 24,605,619 (GRCm39) |
S168G |
probably benign |
Het |
| Ahnak2 |
T |
C |
12: 112,740,992 (GRCm39) |
I1027V |
probably benign |
Het |
| Alox12e |
A |
G |
11: 70,210,668 (GRCm39) |
L318P |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,623,454 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
T |
A |
10: 89,869,078 (GRCm39) |
I46N |
probably damaging |
Het |
| Apoa5 |
G |
C |
9: 46,180,415 (GRCm39) |
W7S |
probably damaging |
Het |
| Arnt2 |
T |
C |
7: 83,993,009 (GRCm39) |
H177R |
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,718,913 (GRCm39) |
D220G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,307,975 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
C |
A |
11: 29,753,137 (GRCm39) |
V925L |
probably benign |
Het |
| Fbll1 |
G |
A |
11: 35,688,505 (GRCm39) |
H253Y |
possibly damaging |
Het |
| Galnt1 |
A |
G |
18: 24,404,712 (GRCm39) |
T350A |
probably benign |
Het |
| Gbp10 |
T |
A |
5: 105,372,324 (GRCm39) |
E145D |
possibly damaging |
Het |
| Gfm1 |
T |
C |
3: 67,364,033 (GRCm39) |
I503T |
probably damaging |
Het |
| Hmcn2 |
A |
T |
2: 31,226,624 (GRCm39) |
K200* |
probably null |
Het |
| Ifi203 |
T |
A |
1: 173,757,040 (GRCm39) |
|
probably benign |
Het |
| Itgbl1 |
T |
C |
14: 124,204,090 (GRCm39) |
F394L |
probably damaging |
Het |
| Itpkc |
T |
A |
7: 26,927,029 (GRCm39) |
D295V |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,850,328 (GRCm39) |
I41F |
probably benign |
Het |
| Lcorl |
A |
T |
5: 45,891,383 (GRCm39) |
N323K |
possibly damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,851,248 (GRCm39) |
C836S |
probably damaging |
Het |
| Mfsd2b |
A |
G |
12: 4,920,578 (GRCm39) |
S80P |
probably damaging |
Het |
| Ms4a18 |
A |
T |
19: 10,988,863 (GRCm39) |
H164Q |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,339,563 (GRCm39) |
H882R |
possibly damaging |
Het |
| Myh9 |
G |
A |
15: 77,651,012 (GRCm39) |
R1612C |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,736,441 (GRCm39) |
D1514G |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,777,757 (GRCm39) |
I441T |
probably benign |
Het |
| Ntng1 |
A |
T |
3: 109,842,007 (GRCm39) |
D255E |
probably damaging |
Het |
| Or2y1 |
A |
G |
11: 49,386,287 (GRCm39) |
D309G |
possibly damaging |
Het |
| Osbpl2 |
G |
A |
2: 179,803,353 (GRCm39) |
R475H |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,730,913 (GRCm39) |
K3138N |
unknown |
Het |
| Pcsk7 |
A |
G |
9: 45,838,057 (GRCm39) |
T572A |
possibly damaging |
Het |
| Pex11a |
C |
T |
7: 79,389,918 (GRCm39) |
R56H |
possibly damaging |
Het |
| Pnma8b |
C |
T |
7: 16,680,521 (GRCm39) |
H502Y |
probably benign |
Het |
| Saa4 |
T |
A |
7: 46,379,053 (GRCm39) |
N96Y |
possibly damaging |
Het |
| Serpinb6d |
T |
A |
13: 33,851,663 (GRCm39) |
V140E |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,627,413 (GRCm39) |
|
probably benign |
Het |
| St18 |
G |
A |
1: 6,925,697 (GRCm39) |
|
probably null |
Het |
| Tnr |
T |
C |
1: 159,750,983 (GRCm39) |
S1315P |
possibly damaging |
Het |
| Trappc11 |
T |
C |
8: 47,967,138 (GRCm39) |
E412G |
probably damaging |
Het |
| Trpc2 |
G |
A |
7: 101,733,711 (GRCm39) |
S220N |
probably damaging |
Het |
| Trpm7 |
A |
G |
2: 126,693,441 (GRCm39) |
V48A |
probably damaging |
Het |
| Tubb6 |
A |
G |
18: 67,535,121 (GRCm39) |
Y340C |
probably damaging |
Het |
| Vmn1r197 |
C |
A |
13: 22,512,746 (GRCm39) |
Y222* |
probably null |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,413 (GRCm39) |
S103P |
probably damaging |
Het |
| Zfp362 |
C |
G |
4: 128,680,682 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
A |
G |
8: 88,507,972 (GRCm39) |
C666R |
probably 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 |
|
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACTGCTGAAGGGCTGAAC -3'
(R):5'- TCCTGAGCCTCTACACAAGG -3'
Sequencing Primer
(F):5'- CATTTCTTTTGGGGGCAACAC -3'
(R):5'- CTCTACACAAGGGGTATGAGGAG -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation