Incidental Mutation 'IGL00791:Taf15'
| ID |
14352 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taf15
|
| Ensembl Gene |
ENSMUSG00000020680 |
| Gene Name |
TATA-box binding protein associated factor 15 |
| Synonyms |
Taf2n, 68kDa, 2610111C21Rik, TAFII68 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
IGL00791
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83363912-83397569 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 83379749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021018]
|
| AlphaFold |
Q8BQ46 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000021018
|
| SMART Domains |
Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
44 |
70 |
N/A |
INTRINSIC |
|
low complexity region
|
72 |
90 |
N/A |
INTRINSIC |
|
low complexity region
|
103 |
128 |
N/A |
INTRINSIC |
|
low complexity region
|
139 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
194 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
212 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
232 |
N/A |
INTRINSIC |
|
RRM
|
233 |
314 |
1.34e-15 |
SMART |
|
low complexity region
|
324 |
349 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
354 |
380 |
1.62e-5 |
SMART |
|
low complexity region
|
388 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126134
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133170
|
| SMART Domains |
Protein: ENSMUSP00000119836
Gene: ENSMUSG00000020680
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
30 |
39 |
N/A |
INTRINSIC |
|
RRM
|
40 |
121 |
1.34e-15 |
SMART |
|
low complexity region
|
131 |
156 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
161 |
187 |
1.62e-5 |
SMART |
|
low complexity region
|
195 |
312 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134185
|
| 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 a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap2 |
A |
T |
12: 21,289,649 (GRCm39) |
M519L |
possibly damaging |
Het |
| Bbs7 |
T |
C |
3: 36,629,436 (GRCm39) |
*674W |
probably null |
Het |
| Ceacam13 |
A |
G |
7: 17,747,278 (GRCm39) |
T244A |
possibly damaging |
Het |
| Cln8 |
T |
A |
8: 14,944,689 (GRCm39) |
M1K |
probably null |
Het |
| Cnot9 |
T |
C |
1: 74,561,533 (GRCm39) |
V126A |
probably benign |
Het |
| Enpep |
T |
C |
3: 129,125,731 (GRCm39) |
T134A |
possibly damaging |
Het |
| Fastkd5 |
C |
A |
2: 130,458,297 (GRCm39) |
A98S |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,676,284 (GRCm39) |
I53N |
possibly damaging |
Het |
| Hexd |
A |
G |
11: 121,111,986 (GRCm39) |
S427G |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,664,044 (GRCm39) |
L1927R |
probably damaging |
Het |
| Mia2 |
A |
G |
12: 59,155,085 (GRCm39) |
E267G |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,057,137 (GRCm39) |
S4132P |
probably damaging |
Het |
| Rtn3 |
A |
G |
19: 7,412,434 (GRCm39) |
L780P |
probably damaging |
Het |
| Serpinb9c |
A |
T |
13: 33,335,867 (GRCm39) |
V195E |
probably damaging |
Het |
| Slit2 |
T |
C |
5: 48,461,374 (GRCm39) |
Y1474H |
possibly damaging |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,737 (GRCm39) |
S194P |
probably benign |
Het |
| Tbc1d2b |
T |
C |
9: 90,109,481 (GRCm39) |
S332G |
probably benign |
Het |
| Tmpo |
A |
T |
10: 90,998,420 (GRCm39) |
S456T |
possibly damaging |
Het |
| Tubgcp2 |
A |
G |
7: 139,581,411 (GRCm39) |
L608P |
probably damaging |
Het |
| Zfp39 |
T |
A |
11: 58,783,885 (GRCm39) |
|
probably benign |
Het |
| Zfp935 |
A |
C |
13: 62,602,278 (GRCm39) |
N307K |
probably benign |
Het |
|
| Other mutations in Taf15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01151:Taf15
|
APN |
11 |
83,378,197 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0942:Taf15
|
UTSW |
11 |
83,389,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1530:Taf15
|
UTSW |
11 |
83,378,122 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2267:Taf15
|
UTSW |
11 |
83,388,088 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2437:Taf15
|
UTSW |
11 |
83,395,579 (GRCm39) |
intron |
probably benign |
|
|
R3123:Taf15
|
UTSW |
11 |
83,395,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3155:Taf15
|
UTSW |
11 |
83,393,599 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3784:Taf15
|
UTSW |
11 |
83,397,248 (GRCm39) |
missense |
unknown |
|
|
R4491:Taf15
|
UTSW |
11 |
83,375,520 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4951:Taf15
|
UTSW |
11 |
83,375,637 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5104:Taf15
|
UTSW |
11 |
83,378,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6814:Taf15
|
UTSW |
11 |
83,389,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6987:Taf15
|
UTSW |
11 |
83,375,521 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R7328:Taf15
|
UTSW |
11 |
83,375,658 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7431:Taf15
|
UTSW |
11 |
83,395,779 (GRCm39) |
missense |
unknown |
|
|
R7624:Taf15
|
UTSW |
11 |
83,395,849 (GRCm39) |
missense |
unknown |
|
|
R8432:Taf15
|
UTSW |
11 |
83,395,851 (GRCm39) |
small deletion |
probably benign |
|
|
R8523:Taf15
|
UTSW |
11 |
83,375,678 (GRCm39) |
nonsense |
probably null |
|
|
R8725:Taf15
|
UTSW |
11 |
83,389,964 (GRCm39) |
missense |
probably benign |
0.26 |
|
R9127:Taf15
|
UTSW |
11 |
83,395,085 (GRCm39) |
nonsense |
probably null |
|
|
R9571:Taf15
|
UTSW |
11 |
83,395,487 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Taf15
|
UTSW |
11 |
83,378,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2012-12-06 |
Incidental Mutation