Incidental Mutation 'IGL00688:Taf1'
| ID |
14350 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taf1
|
| Ensembl Gene |
ENSMUSG00000031314 |
| Gene Name |
TATA-box binding protein associated factor 1 |
| Synonyms |
Ccg1, B430306D02Rik, KAT4, Ccg-1, Taf2a |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
IGL00688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
100576335-100644635 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100606545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1248
(E1248G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101341]
[ENSMUST00000118878]
[ENSMUST00000143908]
[ENSMUST00000149274]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101341
AA Change: E1280G
PolyPhen 2
Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000098895
Gene: ENSMUSG00000031314
AA Change: E1280G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TBP-binding
|
23 |
86 |
3.1e-25 |
PFAM |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
549 |
565 |
N/A |
INTRINSIC |
|
Pfam:DUF3591
|
592 |
1055 |
6.7e-171 |
PFAM |
|
low complexity region
|
1111 |
1123 |
N/A |
INTRINSIC |
|
coiled coil region
|
1132 |
1168 |
N/A |
INTRINSIC |
|
coiled coil region
|
1244 |
1277 |
N/A |
INTRINSIC |
|
Pfam:zf-CCHC_6
|
1293 |
1332 |
1e-18 |
PFAM |
|
low complexity region
|
1373 |
1390 |
N/A |
INTRINSIC |
|
BROMO
|
1410 |
1518 |
6.27e-32 |
SMART |
|
BROMO
|
1532 |
1641 |
1.42e-39 |
SMART |
|
low complexity region
|
1655 |
1666 |
N/A |
INTRINSIC |
|
low complexity region
|
1668 |
1679 |
N/A |
INTRINSIC |
|
low complexity region
|
1720 |
1734 |
N/A |
INTRINSIC |
|
low complexity region
|
1751 |
1767 |
N/A |
INTRINSIC |
|
low complexity region
|
1775 |
1789 |
N/A |
INTRINSIC |
|
low complexity region
|
1856 |
1866 |
N/A |
INTRINSIC |
|
low complexity region
|
1880 |
1888 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118878
AA Change: E1248G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112772
Gene: ENSMUSG00000031314
AA Change: E1248G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TBP-binding
|
22 |
87 |
1.4e-26 |
PFAM |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
183 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
538 |
N/A |
INTRINSIC |
|
Pfam:DUF3591
|
565 |
1028 |
5.1e-158 |
PFAM |
|
low complexity region
|
1084 |
1096 |
N/A |
INTRINSIC |
|
coiled coil region
|
1105 |
1136 |
N/A |
INTRINSIC |
|
coiled coil region
|
1212 |
1245 |
N/A |
INTRINSIC |
|
Pfam:zf-CCHC_6
|
1261 |
1300 |
1.2e-17 |
PFAM |
|
low complexity region
|
1341 |
1358 |
N/A |
INTRINSIC |
|
BROMO
|
1378 |
1486 |
6.27e-32 |
SMART |
|
BROMO
|
1500 |
1609 |
1.42e-39 |
SMART |
|
low complexity region
|
1623 |
1634 |
N/A |
INTRINSIC |
|
low complexity region
|
1636 |
1647 |
N/A |
INTRINSIC |
|
low complexity region
|
1688 |
1702 |
N/A |
INTRINSIC |
|
low complexity region
|
1719 |
1735 |
N/A |
INTRINSIC |
|
low complexity region
|
1743 |
1757 |
N/A |
INTRINSIC |
|
low complexity region
|
1824 |
1834 |
N/A |
INTRINSIC |
|
low complexity region
|
1848 |
1856 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129487
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000143908
AA Change: E1269G
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000138159
Gene: ENSMUSG00000031314
AA Change: E1269G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TBP-binding
|
22 |
87 |
3.1e-27 |
PFAM |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
|
Pfam:DUF3591
|
586 |
1049 |
7.1e-159 |
PFAM |
|
low complexity region
|
1105 |
1117 |
N/A |
INTRINSIC |
|
coiled coil region
|
1126 |
1157 |
N/A |
INTRINSIC |
|
coiled coil region
|
1233 |
1266 |
N/A |
INTRINSIC |
|
Pfam:zf-CCHC_6
|
1282 |
1321 |
4.4e-18 |
PFAM |
|
low complexity region
|
1362 |
1379 |
N/A |
INTRINSIC |
|
BROMO
|
1399 |
1507 |
6.27e-32 |
SMART |
|
BROMO
|
1521 |
1630 |
1.42e-39 |
SMART |
|
low complexity region
|
1644 |
1655 |
N/A |
INTRINSIC |
|
low complexity region
|
1657 |
1668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000149274
AA Change: E1269G
PolyPhen 2
Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000114765
Gene: ENSMUSG00000031314
AA Change: E1269G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TBP-binding
|
22 |
87 |
8.3e-28 |
PFAM |
|
low complexity region
|
138 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
288 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
|
Pfam:DUF3591
|
586 |
710 |
1.5e-28 |
PFAM |
|
| Coding Region Coverage |
|
| 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 the basal transcription factor 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 the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700009N14Rik |
A |
T |
4: 39,451,443 (GRCm39) |
L216F |
probably benign |
Het |
| Atg13 |
A |
T |
2: 91,516,842 (GRCm39) |
|
probably benign |
Het |
| Fgf7 |
A |
G |
2: 125,931,365 (GRCm39) |
T157A |
probably damaging |
Het |
| Irak4 |
A |
G |
15: 94,464,744 (GRCm39) |
H438R |
possibly damaging |
Het |
| Kansl1 |
T |
C |
11: 104,315,892 (GRCm39) |
T49A |
probably damaging |
Het |
| Kcnh5 |
T |
C |
12: 74,945,171 (GRCm39) |
K693E |
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,300,345 (GRCm39) |
D45E |
probably damaging |
Het |
| Pramel28 |
G |
T |
4: 143,692,392 (GRCm39) |
P203Q |
possibly damaging |
Het |
| Prlr |
T |
C |
15: 10,322,467 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
A |
G |
15: 99,214,012 (GRCm39) |
K789E |
probably benign |
Het |
| Reep5 |
A |
T |
18: 34,482,746 (GRCm39) |
S154R |
probably benign |
Het |
| Setx |
T |
A |
2: 29,038,457 (GRCm39) |
S1647R |
possibly damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,775,966 (GRCm39) |
E174G |
probably damaging |
Het |
| Tanc1 |
T |
G |
2: 59,645,735 (GRCm39) |
L929R |
probably damaging |
Het |
| Tanc2 |
A |
G |
11: 105,689,516 (GRCm39) |
Y226C |
probably damaging |
Het |
| Tmem69 |
T |
C |
4: 116,410,671 (GRCm39) |
I100V |
probably benign |
Het |
|
| Other mutations in Taf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01519:Taf1
|
APN |
X |
100,606,412 (GRCm39) |
splice site |
probably benign |
|
|
R1768:Taf1
|
UTSW |
X |
100,584,500 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1867:Taf1
|
UTSW |
X |
100,606,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4242:Taf1
|
UTSW |
X |
100,588,109 (GRCm39) |
missense |
probably benign |
|
|
R4491:Taf1
|
UTSW |
X |
100,586,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4492:Taf1
|
UTSW |
X |
100,586,665 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4582:Taf1
|
UTSW |
X |
100,637,601 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
Z1176:Taf1
|
UTSW |
X |
100,639,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation