Incidental Mutation 'IGL02862:Taf8'
| ID |
362196 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taf8
|
| Ensembl Gene |
ENSMUSG00000023980 |
| Gene Name |
TATA-box binding protein associated factor 8 |
| Synonyms |
Taf8, Tbn |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02862
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
47794289-47813216 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 47805339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 187
(A187T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000063201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067103]
|
| AlphaFold |
Q9EQH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067103
AA Change: A187T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000063201
Gene: ENSMUSG00000023980
AA Change: A187T
| Domain | Start | End | E-Value | Type |
|---|
|
BTP
|
27 |
104 |
1.76e-32 |
SMART |
|
Pfam:TAF8_C
|
143 |
191 |
8.1e-24 |
PFAM |
|
low complexity region
|
236 |
250 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
286 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
305 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a gene trap mutation die at E4.0 and exhibit apoptosis of inner mass cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
A |
G |
7: 28,611,659 (GRCm39) |
|
probably benign |
Het |
| Adhfe1 |
T |
C |
1: 9,624,036 (GRCm39) |
L170P |
probably damaging |
Het |
| Adprh |
C |
T |
16: 38,266,396 (GRCm39) |
V249I |
probably benign |
Het |
| Akr1e1 |
T |
C |
13: 4,659,092 (GRCm39) |
T11A |
possibly damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,347,306 (GRCm39) |
E668G |
probably damaging |
Het |
| Ccdc163 |
G |
A |
4: 116,569,910 (GRCm39) |
|
probably null |
Het |
| Egfr |
A |
T |
11: 16,833,562 (GRCm39) |
Y610F |
probably benign |
Het |
| Ercc3 |
T |
C |
18: 32,376,255 (GRCm39) |
|
probably null |
Het |
| Fasn |
G |
T |
11: 120,709,805 (GRCm39) |
H417Q |
possibly damaging |
Het |
| Gjd2 |
A |
G |
2: 113,843,624 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
C |
T |
6: 91,765,085 (GRCm39) |
R59H |
probably damaging |
Het |
| H2bc11 |
C |
T |
13: 22,227,515 (GRCm39) |
S39L |
possibly damaging |
Het |
| Ighv1-43 |
A |
G |
12: 114,909,859 (GRCm39) |
V21A |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,697,466 (GRCm39) |
G1368D |
probably damaging |
Het |
| Mogs |
G |
T |
6: 83,092,871 (GRCm39) |
G104C |
probably damaging |
Het |
| Nfix |
T |
A |
8: 85,440,475 (GRCm39) |
T472S |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,648 (GRCm39) |
V274A |
probably benign |
Het |
| Ovch2 |
A |
T |
7: 107,394,138 (GRCm39) |
V105E |
probably damaging |
Het |
| Pex1 |
G |
T |
5: 3,655,424 (GRCm39) |
|
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Prl7a1 |
T |
C |
13: 27,823,872 (GRCm39) |
T70A |
probably benign |
Het |
| Shmt2 |
C |
T |
10: 127,354,743 (GRCm39) |
R311Q |
probably benign |
Het |
| St3gal4 |
A |
G |
9: 34,963,543 (GRCm39) |
I255T |
probably benign |
Het |
| Tm6sf1 |
T |
A |
7: 81,520,504 (GRCm39) |
V62D |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,636,262 (GRCm39) |
W537R |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,867 (GRCm39) |
L621H |
probably damaging |
Het |
|
| Other mutations in Taf8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02179:Taf8
|
APN |
17 |
47,813,158 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03068:Taf8
|
APN |
17 |
47,812,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03197:Taf8
|
APN |
17 |
47,809,127 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0153:Taf8
|
UTSW |
17 |
47,809,177 (GRCm39) |
splice site |
probably benign |
|
|
R0344:Taf8
|
UTSW |
17 |
47,804,505 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1782:Taf8
|
UTSW |
17 |
47,809,136 (GRCm39) |
missense |
probably benign |
0.13 |
|
R2046:Taf8
|
UTSW |
17 |
47,801,201 (GRCm39) |
missense |
probably benign |
|
|
R5536:Taf8
|
UTSW |
17 |
47,805,407 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5956:Taf8
|
UTSW |
17 |
47,809,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Taf8
|
UTSW |
17 |
47,807,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9679:Taf8
|
UTSW |
17 |
47,801,101 (GRCm39) |
missense |
unknown |
|
|
X0065:Taf8
|
UTSW |
17 |
47,812,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation