Incidental Mutation 'R1560:Taf4'
| ID |
170536 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf4
|
| Ensembl Gene |
ENSMUSG00000039117 |
| Gene Name |
TATA-box binding protein associated factor 4 |
| Synonyms |
TAFII130, Taf2c1, TAFII135, Taf4a |
| MMRRC Submission |
039599-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1560 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
179553945-179618439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 179577746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 525
(V525A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038610
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041618]
[ENSMUST00000227325]
|
| AlphaFold |
E9QAP7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041618
AA Change: V525A
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: V525A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
64 |
181 |
N/A |
INTRINSIC |
|
SCOP:d1hqva_
|
312 |
325 |
6e-3 |
SMART |
|
low complexity region
|
339 |
371 |
N/A |
INTRINSIC |
|
low complexity region
|
395 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
428 |
443 |
N/A |
INTRINSIC |
|
low complexity region
|
445 |
458 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
465 |
500 |
2.85e-5 |
PROSPERO |
|
low complexity region
|
537 |
547 |
N/A |
INTRINSIC |
|
TAFH
|
550 |
642 |
4.9e-54 |
SMART |
|
internal_repeat_1
|
692 |
727 |
2.85e-5 |
PROSPERO |
|
low complexity region
|
767 |
773 |
N/A |
INTRINSIC |
|
Pfam:TAF4
|
791 |
1039 |
3.5e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227325
AA Change: V525A
PolyPhen 2
Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that has been shown to potentiate transcriptional activation by retinoic acid, thyroid hormone and vitamin D3 receptors. In addition, this subunit interacts with the transcription factor CREB, which has a glutamine-rich activation domain, and binds to other proteins containing glutamine-rich regions. Aberrant binding to this subunit by proteins with expanded polyglutamine regions has been suggested as one of the pathogenetic mechanisms underlying a group of neurodegenerative disorders referred to as polyglutamine diseases. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for deletions of this marker die embryonically sometime around E9.5. Conditional expression of this allele in the epidermis causes skin barrier defects and defects in hair growth. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
A |
G |
7: 41,275,466 (GRCm39) |
T390A |
probably benign |
Het |
| Adamts8 |
T |
A |
9: 30,867,963 (GRCm39) |
C596S |
probably damaging |
Het |
| Avl9 |
T |
A |
6: 56,702,113 (GRCm39) |
Y89* |
probably null |
Het |
| Cacna1e |
G |
A |
1: 154,296,850 (GRCm39) |
R18* |
probably null |
Het |
| Cacng2 |
A |
G |
15: 77,897,518 (GRCm39) |
F97S |
probably benign |
Het |
| Calu |
A |
G |
6: 29,361,657 (GRCm39) |
D107G |
probably benign |
Het |
| Capns2 |
G |
A |
8: 93,628,771 (GRCm39) |
R220Q |
probably damaging |
Het |
| Catsperb |
C |
T |
12: 101,591,985 (GRCm39) |
T1105I |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,804,825 (GRCm39) |
N753D |
possibly damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dnah5 |
G |
T |
15: 28,420,149 (GRCm39) |
V3816F |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,771,903 (GRCm39) |
|
probably null |
Het |
| Ep400 |
A |
T |
5: 110,818,972 (GRCm39) |
|
probably null |
Het |
| Epb41l2 |
T |
A |
10: 25,371,334 (GRCm39) |
|
probably null |
Het |
| Fetub |
T |
C |
16: 22,758,117 (GRCm39) |
V300A |
probably benign |
Het |
| Gabrb3 |
A |
T |
7: 57,466,043 (GRCm39) |
M308L |
probably damaging |
Het |
| Galnt16 |
A |
T |
12: 80,648,566 (GRCm39) |
D546V |
possibly damaging |
Het |
| Gimap8 |
G |
T |
6: 48,633,068 (GRCm39) |
G296W |
probably damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,125 (GRCm39) |
K742E |
probably damaging |
Het |
| Hmbs |
T |
C |
9: 44,248,657 (GRCm39) |
H72R |
possibly damaging |
Het |
| Krt16 |
A |
G |
11: 100,137,475 (GRCm39) |
I410T |
probably damaging |
Het |
| Lamb3 |
G |
A |
1: 193,021,710 (GRCm39) |
A971T |
probably benign |
Het |
| Lilra6 |
A |
C |
7: 3,914,407 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
A |
T |
4: 106,568,451 (GRCm39) |
M418K |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,044,484 (GRCm39) |
K640* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,394,533 (GRCm39) |
C711* |
probably null |
Het |
| Or1j17 |
T |
A |
2: 36,578,155 (GRCm39) |
L47Q |
probably damaging |
Het |
| Or2ak5 |
A |
T |
11: 58,611,513 (GRCm39) |
Y120* |
probably null |
Het |
| Or3a10 |
A |
G |
11: 73,935,441 (GRCm39) |
S220P |
probably damaging |
Het |
| Or4c111 |
T |
C |
2: 88,843,550 (GRCm39) |
Y286C |
probably damaging |
Het |
| Otop3 |
A |
T |
11: 115,235,289 (GRCm39) |
H307L |
possibly damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,976,976 (GRCm39) |
T165A |
probably benign |
Het |
| Poldip3 |
G |
A |
15: 83,022,527 (GRCm39) |
R86W |
probably damaging |
Het |
| Rif1 |
A |
T |
2: 52,001,143 (GRCm39) |
R1532S |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Slc27a6 |
T |
A |
18: 58,712,904 (GRCm39) |
L242* |
probably null |
Het |
| Spata45 |
T |
C |
1: 190,772,017 (GRCm39) |
S80P |
probably benign |
Het |
| Tbck |
A |
G |
3: 132,543,809 (GRCm39) |
T887A |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,650,463 (GRCm39) |
T1571I |
probably damaging |
Het |
| Trim38 |
A |
G |
13: 23,966,685 (GRCm39) |
Y44C |
probably benign |
Het |
| Tsg101 |
A |
T |
7: 46,542,208 (GRCm39) |
|
probably null |
Het |
| Tsku |
T |
A |
7: 98,002,151 (GRCm39) |
D60V |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,373,543 (GRCm39) |
S962N |
probably damaging |
Het |
| Upf1 |
G |
A |
8: 70,791,092 (GRCm39) |
P550L |
probably damaging |
Het |
| Vipr2 |
A |
G |
12: 116,058,401 (GRCm39) |
D106G |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,843,745 (GRCm39) |
|
probably null |
Het |
| Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
| Wdr81 |
C |
T |
11: 75,342,449 (GRCm39) |
W939* |
probably null |
Het |
| Zfp512b |
T |
C |
2: 181,230,472 (GRCm39) |
T473A |
probably benign |
Het |
|
| Other mutations in Taf4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00334:Taf4
|
APN |
2 |
179,618,418 (GRCm39) |
missense |
unknown |
|
|
IGL00517:Taf4
|
APN |
2 |
179,566,206 (GRCm39) |
splice site |
probably benign |
|
|
IGL02159:Taf4
|
APN |
2 |
179,580,263 (GRCm39) |
missense |
probably benign |
0.24 |
|
IGL02254:Taf4
|
APN |
2 |
179,562,977 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL03366:Taf4
|
APN |
2 |
179,576,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Taf4
|
UTSW |
2 |
179,565,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0049:Taf4
|
UTSW |
2 |
179,565,884 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1267:Taf4
|
UTSW |
2 |
179,571,117 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1495:Taf4
|
UTSW |
2 |
179,574,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1756:Taf4
|
UTSW |
2 |
179,618,324 (GRCm39) |
missense |
unknown |
|
|
R1893:Taf4
|
UTSW |
2 |
179,574,823 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1932:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2213:Taf4
|
UTSW |
2 |
179,577,683 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3896:Taf4
|
UTSW |
2 |
179,573,807 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4050:Taf4
|
UTSW |
2 |
179,573,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4448:Taf4
|
UTSW |
2 |
179,577,764 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R4736:Taf4
|
UTSW |
2 |
179,566,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6155:Taf4
|
UTSW |
2 |
179,555,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6238:Taf4
|
UTSW |
2 |
179,573,832 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6292:Taf4
|
UTSW |
2 |
179,565,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7749:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7751:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7754:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7835:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7879:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7880:Taf4
|
UTSW |
2 |
179,577,726 (GRCm39) |
nonsense |
probably null |
|
|
R7880:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7883:Taf4
|
UTSW |
2 |
179,571,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7899:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7902:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7905:Taf4
|
UTSW |
2 |
179,573,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9743:Taf4
|
UTSW |
2 |
179,581,592 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGATCCCAAGTAGGACGCTCAGG -3'
(R):5'- GGTAGCCGTTAGTCAGTGTGACAG -3'
Sequencing Primer
(F):5'- TGTGCAGGTCACCCCATAAG -3'
(R):5'- AAGCCCCTCAGGTTTATTGTAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation