Incidental Mutation 'IGL01151:Taf15'
| ID |
52400 |
| 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 # |
IGL01151
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
83363912-83397569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83378197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 146
(S146P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021018]
|
| AlphaFold |
Q8BQ46 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000021018
AA Change: S146P
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: S146P
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152405
|
| 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: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,553,518 (GRCm39) |
Q5452R |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,254,408 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,816,027 (GRCm39) |
D157G |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,350,643 (GRCm39) |
V18E |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,507,673 (GRCm39) |
|
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,550,848 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,412,754 (GRCm39) |
T59A |
probably benign |
Het |
| Gbp5 |
T |
C |
3: 142,206,355 (GRCm39) |
L13P |
probably damaging |
Het |
| Gpr161 |
G |
T |
1: 165,149,078 (GRCm39) |
L482F |
probably damaging |
Het |
| Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,310,503 (GRCm39) |
F429V |
probably damaging |
Het |
| Kbtbd11 |
G |
T |
8: 15,079,176 (GRCm39) |
D592Y |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,958,690 (GRCm39) |
G465V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,435,601 (GRCm39) |
Y974F |
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,473,111 (GRCm39) |
Y169C |
probably damaging |
Het |
| Nos1ap |
A |
T |
1: 170,416,845 (GRCm39) |
I30N |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,492,516 (GRCm39) |
I157T |
possibly damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,323 (GRCm39) |
D197V |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,248 (GRCm39) |
I108N |
probably damaging |
Het |
| Pgf |
A |
G |
12: 85,218,510 (GRCm39) |
L80P |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 92,001,777 (GRCm39) |
L459P |
probably damaging |
Het |
| Slc9a1 |
A |
T |
4: 133,139,300 (GRCm39) |
I173F |
probably damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Thumpd1 |
C |
T |
7: 119,317,418 (GRCm39) |
R161Q |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,116,174 (GRCm39) |
I5T |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,442 (GRCm39) |
V108A |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,740,469 (GRCm39) |
S199R |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,086 (GRCm39) |
Y742F |
probably damaging |
Het |
|
| Other mutations in Taf15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00791:Taf15
|
APN |
11 |
83,379,749 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
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 |
2013-06-21 |
Incidental Mutation