Incidental Mutation 'R0942:Taf15'
ID |
82760 |
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 |
039081-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.946)
|
Stock # |
R0942 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
83363912-83397569 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83389932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 40
(I40T)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021018]
|
AlphaFold |
Q8BQ46 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000021018
AA Change: I234T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000021018 Gene: ENSMUSG00000020680 AA Change: I234T
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 |
probably damaging
Transcript: ENSMUST00000133170
AA Change: I40T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119836 Gene: ENSMUSG00000020680 AA Change: I40T
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 |
0.7010 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
95% (40/42) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
Aass |
C |
T |
6: 23,075,151 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
C |
A |
12: 118,869,933 (GRCm39) |
V742F |
possibly damaging |
Het |
Abcd4 |
A |
G |
12: 84,659,602 (GRCm39) |
I165T |
probably damaging |
Het |
Acer3 |
T |
C |
7: 97,906,949 (GRCm39) |
Y119C |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,568,789 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
T |
A |
11: 4,618,380 (GRCm39) |
I325N |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,074,591 (GRCm39) |
I1050N |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,912,742 (GRCm39) |
V245A |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,263,561 (GRCm39) |
D1270V |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,246,639 (GRCm39) |
M936K |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,792,666 (GRCm39) |
|
probably benign |
Het |
Dner |
T |
C |
1: 84,563,030 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
T |
A |
14: 119,124,609 (GRCm39) |
R555* |
probably null |
Het |
Enpp4 |
A |
T |
17: 44,412,772 (GRCm39) |
L254* |
probably null |
Het |
Erich3 |
T |
A |
3: 154,444,788 (GRCm39) |
D518E |
probably benign |
Het |
Gli2 |
G |
A |
1: 118,765,236 (GRCm39) |
R972C |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,344,634 (GRCm39) |
Y346H |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,581,173 (GRCm39) |
L1192P |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,312,349 (GRCm39) |
Q445L |
probably benign |
Het |
Il17d |
C |
T |
14: 57,779,777 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,520,301 (GRCm39) |
N1936K |
probably benign |
Het |
Lrrc45 |
T |
C |
11: 120,609,064 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mphosph9 |
T |
A |
5: 124,400,100 (GRCm39) |
R934* |
probably null |
Het |
Nek11 |
T |
A |
9: 105,172,570 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,329,537 (GRCm39) |
S634P |
probably benign |
Het |
Or14c40 |
T |
A |
7: 86,313,314 (GRCm39) |
M148K |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,396,355 (GRCm39) |
V1959A |
probably benign |
Het |
Pkp2 |
G |
T |
16: 16,043,894 (GRCm39) |
G216V |
probably benign |
Het |
Ppp1r16a |
T |
C |
15: 76,578,211 (GRCm39) |
L394P |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,996,139 (GRCm39) |
Q1070* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Rprd2 |
A |
T |
3: 95,672,730 (GRCm39) |
I891N |
probably damaging |
Het |
Speer1e |
A |
T |
5: 11,236,488 (GRCm39) |
T174S |
probably benign |
Het |
Tshz1 |
A |
G |
18: 84,031,178 (GRCm39) |
Y1077H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,693,833 (GRCm39) |
E223G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAATGGGAAACCAGCAATTCTGCTTG -3'
(R):5'- GCCTACAGACTTTGGGAAGTACATGC -3'
Sequencing Primer
(F):5'- AGAGTAACCTGCACTTTACCTG -3'
(R):5'- CTTTGGGAAGTACATGCATTAAAGG -3'
|
Posted On |
2013-11-08 |