Incidental Mutation 'R3155:Taf15'
| ID |
263471 |
| 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 |
040606-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R3155 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
83363912-83397569 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83393599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 307
(H307Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021018
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021018]
|
| AlphaFold |
Q8BQ46 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021018
AA Change: H307Q
PolyPhen 2
Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000021018
Gene: ENSMUSG00000020680
AA Change: H307Q
| 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: H113Q
|
| SMART Domains |
Protein: ENSMUSP00000119836
Gene: ENSMUSG00000020680
AA Change: H113Q
| 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 |
0.0969 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
T |
C |
1: 85,859,104 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
C |
4: 40,182,915 (GRCm39) |
V487A |
probably damaging |
Het |
| Adh1 |
A |
G |
3: 137,986,250 (GRCm39) |
E79G |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,821,425 (GRCm39) |
N608S |
probably benign |
Het |
| Ahctf1 |
G |
A |
1: 179,583,148 (GRCm39) |
R43C |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,987,541 (GRCm39) |
I2942L |
possibly damaging |
Het |
| Anxa9 |
A |
T |
3: 95,209,716 (GRCm39) |
D134E |
probably benign |
Het |
| Ccdc14 |
A |
G |
16: 34,544,222 (GRCm39) |
D860G |
probably damaging |
Het |
| Cdhr3 |
T |
A |
12: 33,099,152 (GRCm39) |
I480F |
possibly damaging |
Het |
| Cldn34a |
C |
T |
X: 151,346,840 (GRCm39) |
H171Y |
probably benign |
Het |
| Cyp2d9 |
T |
A |
15: 82,336,843 (GRCm39) |
|
probably null |
Het |
| Dmbt1 |
T |
A |
7: 130,651,887 (GRCm39) |
Y376* |
probably null |
Het |
| Fancm |
T |
C |
12: 65,163,195 (GRCm39) |
I1453T |
probably benign |
Het |
| Fbxw11 |
A |
G |
11: 32,689,244 (GRCm39) |
I456V |
possibly damaging |
Het |
| Fut2 |
A |
T |
7: 45,300,091 (GRCm39) |
L227Q |
probably damaging |
Het |
| Gbp5 |
T |
C |
3: 142,208,888 (GRCm39) |
|
probably null |
Het |
| Glrp1 |
C |
A |
1: 88,430,976 (GRCm39) |
Q131H |
unknown |
Het |
| Gm6871 |
T |
C |
7: 41,223,079 (GRCm39) |
N3S |
probably benign |
Het |
| H2-Eb1 |
C |
A |
17: 34,533,348 (GRCm39) |
T190K |
probably damaging |
Het |
| Kdr |
T |
A |
5: 76,129,065 (GRCm39) |
I194F |
probably benign |
Het |
| Klhdc7a |
A |
G |
4: 139,694,500 (GRCm39) |
V149A |
probably benign |
Het |
| Lrit3 |
A |
G |
3: 129,585,044 (GRCm39) |
F238S |
probably benign |
Het |
| Map10 |
A |
T |
8: 126,398,313 (GRCm39) |
I569F |
possibly damaging |
Het |
| Myh6 |
A |
G |
14: 55,182,125 (GRCm39) |
I1761T |
probably damaging |
Het |
| Npc1l1 |
A |
C |
11: 6,171,840 (GRCm39) |
D874E |
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,982 (GRCm39) |
D52G |
probably benign |
Het |
| Or8c17 |
T |
A |
9: 38,179,836 (GRCm39) |
M1K |
probably null |
Het |
| Pawr |
A |
G |
10: 108,245,370 (GRCm39) |
T193A |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,089,559 (GRCm39) |
K255E |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,679,071 (GRCm39) |
K1006N |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
A |
G |
2: 145,702,771 (GRCm39) |
K489R |
probably benign |
Het |
| Rlf |
A |
G |
4: 121,006,529 (GRCm39) |
V817A |
probably damaging |
Het |
| Rusc1 |
T |
C |
3: 88,999,038 (GRCm39) |
D248G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Stk4 |
T |
A |
2: 163,993,663 (GRCm39) |
M98K |
probably benign |
Het |
| Urgcp |
A |
T |
11: 5,666,327 (GRCm39) |
F670L |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,874,959 (GRCm39) |
T673A |
probably damaging |
Het |
| Zfp324 |
G |
A |
7: 12,702,817 (GRCm39) |
M60I |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAAGACAGTAATGGTTTTGTTG -3'
(R):5'- TATATGTAAGCAAGGACAAAACACA -3'
Sequencing Primer
(F):5'- CAGAGTGTCATTGCAGCATTC -3'
(R):5'- CAGACTTATTCAAACTCTGTGTAGC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation