Incidental Mutation 'R5201:Taf3'
ID |
400746 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taf3
|
Ensembl Gene |
ENSMUSG00000025782 |
Gene Name |
TATA-box binding protein associated factor 3 |
Synonyms |
4933439M23Rik, mTAFII140 |
MMRRC Submission |
042776-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.962)
|
Stock # |
R5201 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
9919363-10053407 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 9956995 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 391
(S391P)
|
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: S391P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026888 Gene: ENSMUSG00000025782 AA Change: S391P
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 damaging
Transcript: ENSMUST00000114909
AA Change: S238P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110559 Gene: ENSMUSG00000025782 AA Change: S238P
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.0%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
C |
A |
15: 81,946,745 (GRCm39) |
T214N |
probably benign |
Het |
Actn4 |
A |
T |
7: 28,615,680 (GRCm39) |
|
probably null |
Het |
Arap2 |
T |
C |
5: 62,840,832 (GRCm39) |
E678G |
probably damaging |
Het |
Atl2 |
T |
C |
17: 80,172,580 (GRCm39) |
N130S |
probably benign |
Het |
Cby2 |
A |
G |
14: 75,821,449 (GRCm39) |
V101A |
probably damaging |
Het |
Cyp2b10 |
A |
G |
7: 25,616,419 (GRCm39) |
D342G |
probably damaging |
Het |
Dnah6 |
A |
G |
6: 73,172,715 (GRCm39) |
Y248H |
possibly damaging |
Het |
Drd5 |
A |
T |
5: 38,477,366 (GRCm39) |
M120L |
probably damaging |
Het |
Duox1 |
A |
G |
2: 122,158,403 (GRCm39) |
R629G |
probably benign |
Het |
Dyrk1b |
A |
G |
7: 27,884,521 (GRCm39) |
Y279C |
probably damaging |
Het |
Efemp1 |
A |
T |
11: 28,864,590 (GRCm39) |
I215L |
probably benign |
Het |
Enpp6 |
C |
A |
8: 47,518,486 (GRCm39) |
Q205K |
probably damaging |
Het |
Fam170a |
A |
T |
18: 50,415,193 (GRCm39) |
T280S |
probably benign |
Het |
Fam222a |
G |
A |
5: 114,749,127 (GRCm39) |
A108T |
possibly damaging |
Het |
Fgd3 |
G |
T |
13: 49,449,854 (GRCm39) |
P132T |
probably benign |
Het |
Fzr1 |
A |
T |
10: 81,203,362 (GRCm39) |
L399H |
probably damaging |
Het |
Galnt15 |
G |
A |
14: 31,771,822 (GRCm39) |
R289Q |
probably damaging |
Het |
Hira |
T |
C |
16: 18,770,865 (GRCm39) |
V834A |
probably damaging |
Het |
Ilf3 |
T |
C |
9: 21,300,679 (GRCm39) |
L93P |
probably damaging |
Het |
Itgae |
G |
A |
11: 73,001,382 (GRCm39) |
R71Q |
probably benign |
Het |
Itprid1 |
T |
C |
6: 55,944,991 (GRCm39) |
S571P |
probably benign |
Het |
Kif14 |
T |
A |
1: 136,431,145 (GRCm39) |
S1181T |
probably benign |
Het |
Lrig3 |
C |
A |
10: 125,849,020 (GRCm39) |
P946Q |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,369,738 (GRCm39) |
C1674* |
probably null |
Het |
Malt1 |
A |
G |
18: 65,609,126 (GRCm39) |
K710R |
probably benign |
Het |
Man1a2 |
A |
T |
3: 100,524,328 (GRCm39) |
N373K |
probably benign |
Het |
Mpped2 |
A |
G |
2: 106,529,847 (GRCm39) |
N32S |
possibly damaging |
Het |
Mrtfb |
A |
C |
16: 13,219,456 (GRCm39) |
T701P |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,674,021 (GRCm39) |
T652S |
probably damaging |
Het |
Nfia |
A |
G |
4: 97,999,462 (GRCm39) |
Y485C |
probably damaging |
Het |
Olfml2b |
A |
T |
1: 170,496,433 (GRCm39) |
T355S |
probably benign |
Het |
Or10q3 |
A |
T |
19: 11,847,995 (GRCm39) |
I195K |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Pcdh1 |
A |
T |
18: 38,331,971 (GRCm39) |
V344D |
probably damaging |
Het |
Plekhn1 |
C |
A |
4: 156,314,984 (GRCm39) |
V558L |
probably benign |
Het |
Prr14l |
A |
G |
5: 32,987,591 (GRCm39) |
S635P |
possibly damaging |
Het |
Prss46 |
T |
A |
9: 110,680,543 (GRCm39) |
C229* |
probably null |
Het |
Rad50 |
A |
G |
11: 53,589,647 (GRCm39) |
|
probably null |
Het |
Slc27a3 |
A |
T |
3: 90,296,526 (GRCm39) |
L191Q |
probably benign |
Het |
Surf4 |
A |
G |
2: 26,823,778 (GRCm39) |
|
probably benign |
Het |
Tep1 |
A |
C |
14: 51,105,567 (GRCm39) |
L151R |
probably benign |
Het |
Tmprss11d |
A |
C |
5: 86,457,214 (GRCm39) |
N148K |
possibly damaging |
Het |
Tpd52l2 |
G |
A |
2: 181,156,879 (GRCm39) |
V172I |
probably benign |
Het |
Vmn2r77 |
A |
G |
7: 86,460,846 (GRCm39) |
D724G |
probably damaging |
Het |
Wdr75 |
T |
A |
1: 45,862,519 (GRCm39) |
D779E |
probably benign |
Het |
Zfp943 |
A |
T |
17: 22,211,794 (GRCm39) |
K293N |
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 |
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 |
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'- AACTTGAGGTTCCGCTGGAG -3'
(R):5'- TTGTAGCTCATGTTCCCCAAAC -3'
Sequencing Primer
(F):5'- TTCCGCTGGAGAGAGGCAG -3'
(R):5'- ATGTTCCCCAAACCCCTGTCAG -3'
|
Posted On |
2016-07-06 |