Incidental Mutation 'R3784:Taf15'
| ID |
272179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf15
|
| Ensembl Gene |
ENSMUSG00000020680 |
| Gene Name |
TATA-box binding protein associated factor 15 |
| Synonyms |
Taf2n, 68kDa, 2610111C21Rik, TAFII68 |
| MMRRC Submission |
040876-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R3784 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83363912-83397569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83397248 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 313
(D313N)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021018]
|
| AlphaFold |
Q8BQ46 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000021018
AA Change: D547N
|
| SMART Domains |
Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: D547N
| 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 |
unknown
Transcript: ENSMUST00000133170
AA Change: D313N
|
| SMART Domains |
Protein: ENSMUSP00000119836
Gene: ENSMUSG00000020680
AA Change: D313N
| 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 |
|
| Meta Mutation Damage Score |
0.0690 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
100% (44/44) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 3110082I17Rik |
G |
T |
5: 139,441,197 (GRCm39) |
P35Q |
probably damaging |
Het |
| Adam11 |
T |
C |
11: 102,665,193 (GRCm39) |
|
probably null |
Het |
| Ank2 |
A |
G |
3: 126,746,842 (GRCm39) |
L581P |
probably damaging |
Het |
| Armc2 |
T |
C |
10: 41,798,190 (GRCm39) |
I779V |
probably benign |
Het |
| Atp8a2 |
A |
T |
14: 60,011,415 (GRCm39) |
Y965N |
probably damaging |
Het |
| C3 |
A |
G |
17: 57,533,067 (GRCm39) |
V146A |
probably damaging |
Het |
| Cfap206 |
A |
T |
4: 34,716,445 (GRCm39) |
I340N |
probably damaging |
Het |
| Col3a1 |
A |
G |
1: 45,386,295 (GRCm39) |
D145G |
probably damaging |
Het |
| Drosha |
A |
G |
15: 12,890,615 (GRCm39) |
D954G |
possibly damaging |
Het |
| Fam161b |
A |
T |
12: 84,408,464 (GRCm39) |
|
probably null |
Het |
| Fat2 |
C |
T |
11: 55,147,012 (GRCm39) |
A3995T |
probably benign |
Het |
| Foxg1 |
A |
G |
12: 49,432,382 (GRCm39) |
T372A |
probably benign |
Het |
| Heatr1 |
G |
T |
13: 12,449,341 (GRCm39) |
L1946F |
probably damaging |
Het |
| Hook1 |
T |
C |
4: 95,877,888 (GRCm39) |
F55L |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,019,328 (GRCm39) |
K986R |
probably benign |
Het |
| Inpp5k |
T |
C |
11: 75,538,512 (GRCm39) |
L461P |
probably damaging |
Het |
| Klra8 |
T |
A |
6: 130,102,018 (GRCm39) |
D139V |
probably benign |
Het |
| Mical3 |
T |
C |
6: 120,998,298 (GRCm39) |
Y20C |
probably benign |
Het |
| Myo15a |
A |
T |
11: 60,368,398 (GRCm39) |
Y386F |
probably damaging |
Het |
| Ncoa6 |
G |
A |
2: 155,249,677 (GRCm39) |
T1209I |
probably damaging |
Het |
| Nsa2 |
G |
T |
13: 97,272,042 (GRCm39) |
Q60K |
possibly damaging |
Het |
| Olfml2b |
A |
G |
1: 170,509,551 (GRCm39) |
D633G |
probably damaging |
Het |
| Plekhg3 |
T |
C |
12: 76,607,294 (GRCm39) |
|
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,326,925 (GRCm39) |
D286E |
probably benign |
Het |
| Pmepa1 |
G |
A |
2: 173,069,926 (GRCm39) |
R210W |
probably damaging |
Het |
| Prmt7 |
C |
A |
8: 106,968,768 (GRCm39) |
Q361K |
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,537,238 (GRCm39) |
|
probably benign |
Het |
| Psg27 |
T |
A |
7: 18,294,279 (GRCm39) |
Q376L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Rad51b |
C |
T |
12: 79,347,419 (GRCm39) |
Q28* |
probably null |
Het |
| Rala |
T |
A |
13: 18,057,031 (GRCm39) |
E185V |
probably benign |
Het |
| Sall4 |
A |
G |
2: 168,598,043 (GRCm39) |
S266P |
probably damaging |
Het |
| Senp6 |
T |
G |
9: 79,999,568 (GRCm39) |
I74S |
probably benign |
Het |
| Spats2l |
A |
G |
1: 57,924,938 (GRCm39) |
E112G |
probably damaging |
Het |
| Synrg |
T |
C |
11: 83,892,746 (GRCm39) |
F613S |
probably damaging |
Het |
| Tekt1 |
A |
G |
11: 72,235,720 (GRCm39) |
I376T |
probably damaging |
Het |
| Thbs4 |
T |
C |
13: 92,909,672 (GRCm39) |
N375S |
probably benign |
Het |
| Tubb6 |
A |
G |
18: 67,526,063 (GRCm39) |
T72A |
possibly damaging |
Het |
| Txndc16 |
A |
T |
14: 45,403,343 (GRCm39) |
V32E |
probably damaging |
Het |
| Vmn1r200 |
A |
T |
13: 22,580,025 (GRCm39) |
Y276F |
possibly 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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGATGGGTAGCAAAGCCTC -3'
(R):5'- CGCACTTAGCTTTAAGGGTTAGG -3'
Sequencing Primer
(F):5'- AAAGCCTGCCTGGTCTACATAGTG -3'
(R):5'- GGACATTTCTAAAAAGAAAACTGCC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation