Incidental Mutation 'R7637:Taf3'
| ID |
589994 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf3
|
| Ensembl Gene |
ENSMUSG00000025782 |
| Gene Name |
TATA-box binding protein associated factor 3 |
| Synonyms |
4933439M23Rik, mTAFII140 |
| MMRRC Submission |
045695-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.956)
|
| Stock # |
R7637 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
9919363-10053407 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 9945804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 600
(V600A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110559
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026888]
[ENSMUST00000114909]
|
| AlphaFold |
Q5HZG4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026888
AA Change: V753A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000026888
Gene: ENSMUSG00000025782
AA Change: V753A
| 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: V600A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000110559
Gene: ENSMUSG00000025782
AA Change: V600A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129720
|
| Meta Mutation Damage Score |
0.0610 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,109,778 (GRCm39) |
Q651L |
probably benign |
Het |
| Adam8 |
C |
T |
7: 139,565,343 (GRCm39) |
V624I |
probably damaging |
Het |
| Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
| Cmya5 |
T |
C |
13: 93,219,720 (GRCm39) |
K3243R |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,023,789 (GRCm39) |
T1124M |
possibly damaging |
Het |
| Fam8a1 |
A |
T |
13: 46,824,723 (GRCm39) |
M237L |
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,758 (GRCm39) |
K82N |
probably benign |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Gm57858 |
T |
A |
3: 36,101,025 (GRCm39) |
Q49L |
probably damaging |
Het |
| Gnat3 |
A |
G |
5: 18,208,770 (GRCm39) |
D158G |
|
Het |
| Grhl2 |
A |
C |
15: 37,328,574 (GRCm39) |
N400T |
probably damaging |
Het |
| Grin2c |
A |
T |
11: 115,147,085 (GRCm39) |
|
probably null |
Het |
| Hipk4 |
A |
G |
7: 27,222,973 (GRCm39) |
Y11C |
probably damaging |
Het |
| Hspa9 |
G |
T |
18: 35,071,740 (GRCm39) |
A620E |
not run |
Het |
| Igkv12-89 |
A |
G |
6: 68,812,083 (GRCm39) |
S29P |
probably benign |
Het |
| Itga8 |
A |
T |
2: 12,113,998 (GRCm39) |
D1039E |
probably damaging |
Het |
| Itgae |
A |
T |
11: 73,004,457 (GRCm39) |
D248V |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,520,093 (GRCm39) |
K2006E |
probably damaging |
Het |
| Litafd |
C |
T |
16: 8,501,510 (GRCm39) |
P59L |
unknown |
Het |
| Mdga1 |
C |
T |
17: 30,051,353 (GRCm39) |
G934R |
probably benign |
Het |
| Mov10 |
T |
C |
3: 104,703,201 (GRCm39) |
N896S |
probably benign |
Het |
| Ndufb6 |
A |
T |
4: 40,273,080 (GRCm39) |
|
probably null |
Het |
| Nlk |
T |
C |
11: 78,481,831 (GRCm39) |
|
probably null |
Het |
| Notch2 |
T |
A |
3: 98,053,939 (GRCm39) |
S2201T |
probably damaging |
Het |
| Or5i1 |
A |
T |
2: 87,613,778 (GRCm39) |
D298V |
probably damaging |
Het |
| Pank1 |
A |
C |
19: 34,799,388 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
C |
8: 46,362,102 (GRCm39) |
F126S |
probably damaging |
Het |
| Pds5a |
C |
A |
5: 65,795,947 (GRCm39) |
G648C |
probably benign |
Het |
| Plekhh3 |
T |
C |
11: 101,055,153 (GRCm39) |
I567V |
unknown |
Het |
| Ppfia2 |
T |
C |
10: 106,701,264 (GRCm39) |
|
probably null |
Het |
| Prl3d1 |
A |
G |
13: 27,284,052 (GRCm39) |
D207G |
probably damaging |
Het |
| Prss23 |
T |
A |
7: 89,159,454 (GRCm39) |
D205V |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,244,569 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
G |
2: 26,111,032 (GRCm39) |
F111S |
probably damaging |
Het |
| Sart3 |
T |
C |
5: 113,909,413 (GRCm39) |
N95S |
probably benign |
Het |
| Scpep1 |
A |
G |
11: 88,820,046 (GRCm39) |
F414S |
probably damaging |
Het |
| Selenbp1 |
C |
A |
3: 94,844,659 (GRCm39) |
Y105* |
probably null |
Het |
| Sirpa |
A |
G |
2: 129,458,365 (GRCm39) |
D327G |
probably benign |
Het |
| Sowahc |
G |
A |
10: 59,058,005 (GRCm39) |
R47H |
probably damaging |
Het |
| Szt2 |
T |
C |
4: 118,251,025 (GRCm39) |
Y361C |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,330,175 (GRCm39) |
I1042M |
probably damaging |
Het |
| Tmem132e |
T |
A |
11: 82,325,342 (GRCm39) |
L114Q |
probably damaging |
Het |
| Tmx3 |
A |
G |
18: 90,555,233 (GRCm39) |
T317A |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Tpr |
T |
C |
1: 150,299,267 (GRCm39) |
Y1156H |
probably damaging |
Het |
| Trank1 |
A |
C |
9: 111,194,364 (GRCm39) |
D796A |
possibly damaging |
Het |
| Tsc2 |
G |
A |
17: 24,826,466 (GRCm39) |
P928S |
probably benign |
Het |
| Unc80 |
G |
T |
1: 66,711,843 (GRCm39) |
V2722F |
possibly damaging |
Het |
| Vmn1r199 |
G |
T |
13: 22,566,845 (GRCm39) |
L46F |
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,727,513 (GRCm39) |
H196Q |
probably benign |
Het |
| Wnt10a |
T |
A |
1: 74,832,633 (GRCm39) |
C75* |
probably null |
Het |
| Zfp335 |
A |
G |
2: 164,734,459 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
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'- AACCTGATGGCAGAGAGTTCC -3'
(R):5'- GAGCTATTGAAAATCACAGAATGGC -3'
Sequencing Primer
(F):5'- ATGGCAGAGAGTTCCTGGCAC -3'
(R):5'- GATGTGCTTCAACCATAAGGACCTG -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation