Incidental Mutation 'R5124:Taf4'
| ID |
470603 |
| 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 |
042712-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5124 (G1)
|
| Quality Score |
58 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
179553945-179618439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 179573822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 682
(T682M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041618]
[ENSMUST00000227325]
|
| AlphaFold |
E9QAP7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041618
AA Change: T682M
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038610
Gene: ENSMUSG00000039117
AA Change: T682M
| 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 |
not run
Transcript: ENSMUST00000131358
AA Change: T319M
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154961
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000227325
AA Change: T682M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.2230 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,401,289 (GRCm39) |
I65N |
probably damaging |
Het |
| Adpgk |
A |
G |
9: 59,222,561 (GRCm39) |
D496G |
possibly damaging |
Het |
| Agbl4 |
A |
G |
4: 111,513,525 (GRCm39) |
M424V |
probably benign |
Het |
| Akap10 |
C |
T |
11: 61,807,015 (GRCm39) |
A72T |
probably damaging |
Het |
| Bpifa3 |
C |
T |
2: 153,980,057 (GRCm39) |
Q230* |
probably null |
Het |
| Cog4 |
G |
T |
8: 111,573,825 (GRCm39) |
R48L |
probably damaging |
Het |
| Cop1 |
A |
G |
1: 159,105,682 (GRCm39) |
Y33C |
probably damaging |
Het |
| Cyp26a1 |
A |
T |
19: 37,689,665 (GRCm39) |
I454L |
probably benign |
Het |
| Ddr1 |
T |
C |
17: 35,994,489 (GRCm39) |
H762R |
probably damaging |
Het |
| Dnajc2 |
A |
T |
5: 21,968,482 (GRCm39) |
S328T |
probably benign |
Het |
| Dppa2 |
G |
T |
16: 48,131,986 (GRCm39) |
V28F |
probably damaging |
Het |
| Dusp15 |
T |
A |
2: 152,793,275 (GRCm39) |
M1L |
possibly damaging |
Het |
| Eml5 |
G |
A |
12: 98,758,301 (GRCm39) |
T1875M |
probably damaging |
Het |
| Fam186a |
A |
G |
15: 99,840,977 (GRCm39) |
S1756P |
possibly damaging |
Het |
| Gm5431 |
T |
A |
11: 48,779,866 (GRCm39) |
Q630L |
probably benign |
Het |
| H6pd |
A |
G |
4: 150,066,512 (GRCm39) |
S625P |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnj6 |
G |
T |
16: 94,633,518 (GRCm39) |
P180T |
probably damaging |
Het |
| Lpin3 |
T |
A |
2: 160,738,981 (GRCm39) |
M263K |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,331,834 (GRCm39) |
D1640E |
probably damaging |
Het |
| Lypd2 |
C |
T |
15: 74,604,347 (GRCm39) |
A74T |
probably benign |
Het |
| Map4k1 |
T |
C |
7: 28,688,257 (GRCm39) |
L223P |
probably damaging |
Het |
| Myh7 |
A |
T |
14: 55,223,199 (GRCm39) |
Y715* |
probably null |
Het |
| Myo9b |
T |
C |
8: 71,808,483 (GRCm39) |
S1697P |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,171,510 (GRCm39) |
E1661G |
probably damaging |
Het |
| Nek8 |
A |
T |
11: 78,063,765 (GRCm39) |
M80K |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,220,947 (GRCm39) |
L979Q |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,431 (GRCm39) |
V113D |
probably damaging |
Het |
| P4htm |
T |
A |
9: 108,459,141 (GRCm39) |
S264C |
possibly damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,768 (GRCm39) |
T417A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,727,406 (GRCm39) |
|
probably benign |
Het |
| Prox1 |
T |
A |
1: 189,893,476 (GRCm39) |
N323I |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,177,274 (GRCm39) |
R222S |
probably damaging |
Het |
| Psmd2 |
C |
A |
16: 20,471,448 (GRCm39) |
R100S |
possibly damaging |
Het |
| Qrich2 |
A |
T |
11: 116,337,599 (GRCm39) |
M1963K |
probably damaging |
Het |
| Rbm39 |
C |
T |
2: 156,001,082 (GRCm39) |
G324D |
probably damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,105,731 (GRCm39) |
|
probably null |
Het |
| Rhov |
G |
T |
2: 119,101,568 (GRCm39) |
P13T |
unknown |
Het |
| Sec14l3 |
A |
G |
11: 4,025,209 (GRCm39) |
D273G |
possibly damaging |
Het |
| Sirpd |
T |
A |
3: 15,385,639 (GRCm39) |
R88* |
probably null |
Het |
| Slco2a1 |
T |
A |
9: 102,927,365 (GRCm39) |
I86N |
probably damaging |
Het |
| Smg1 |
A |
T |
7: 117,812,235 (GRCm39) |
S19T |
probably benign |
Het |
| Stk32a |
T |
C |
18: 43,438,082 (GRCm39) |
S194P |
probably benign |
Het |
| Syna |
G |
A |
5: 134,588,424 (GRCm39) |
S175L |
possibly damaging |
Het |
| Tmem151b |
T |
C |
17: 45,858,045 (GRCm39) |
Y67C |
probably damaging |
Het |
| Tshz1 |
C |
T |
18: 84,033,592 (GRCm39) |
R272Q |
probably damaging |
Het |
| Tti1 |
A |
G |
2: 157,850,115 (GRCm39) |
S375P |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,873,636 (GRCm39) |
K73E |
probably damaging |
Het |
| Vmn1r202 |
C |
T |
13: 22,685,920 (GRCm39) |
V166I |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,154,286 (GRCm39) |
V6A |
probably benign |
Het |
| Zfhx4 |
A |
G |
3: 5,307,107 (GRCm39) |
D111G |
probably damaging |
Het |
| Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
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 |
|
R1560:Taf4
|
UTSW |
2 |
179,577,746 (GRCm39) |
missense |
probably benign |
0.14 |
|
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 |
|
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'- ACCACACGTCTTTCCAGCAG -3'
(R):5'- TGTGCCTGACCCTACATGTCTG -3'
Sequencing Primer
(F):5'- GGAGCTTCCTTGCCTGC -3'
(R):5'- AGCTTACCTGCCTTGAGACAG -3'
|
| Posted On |
2017-03-23 |
Incidental Mutation