Incidental Mutation 'R5383:Taf2'
| ID |
424873 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf2
|
| Ensembl Gene |
ENSMUSG00000037343 |
| Gene Name |
TATA-box binding protein associated factor 2 |
| Synonyms |
150kDa, TAFII150, CIF150, 4732460C16Rik, TAF2B |
| MMRRC Submission |
042958-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5383 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
54878527-54935548 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54912815 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 515
(I515T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041733]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041733
AA Change: I515T
PolyPhen 2
Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000043733
Gene: ENSMUSG00000037343
AA Change: I515T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Peptidase_M1
|
21 |
406 |
5.6e-17 |
PFAM |
|
SCOP:d1gw5a_
|
606 |
973 |
6e-7 |
SMART |
|
low complexity region
|
987 |
998 |
N/A |
INTRINSIC |
|
low complexity region
|
1142 |
1175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226864
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227254
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228360
|
| Meta Mutation Damage Score |
0.7287 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
97% (61/63) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the larger subunits of TFIID that is stably associated with the TFIID complex. It contributes to interactions at and downstream of the transcription initiation site, interactions that help determine transcription complex response to activators. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
A |
T |
17: 9,211,532 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Aadac |
T |
C |
3: 59,943,496 (GRCm39) |
|
probably benign |
Het |
| Abl2 |
G |
A |
1: 156,469,802 (GRCm39) |
G918E |
possibly damaging |
Het |
| Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,373 (GRCm39) |
V328A |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,813,918 (GRCm39) |
I279V |
probably benign |
Het |
| AW551984 |
T |
A |
9: 39,501,994 (GRCm39) |
Y704F |
probably benign |
Het |
| C1s1 |
T |
C |
6: 124,511,360 (GRCm39) |
D321G |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,767,236 (GRCm39) |
D1910V |
possibly damaging |
Het |
| Cdh5 |
A |
G |
8: 104,864,479 (GRCm39) |
Q480R |
probably benign |
Het |
| Cdhr1 |
C |
T |
14: 36,810,964 (GRCm39) |
V266M |
possibly damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,192,755 (GRCm39) |
V414D |
possibly damaging |
Het |
| Ctdnep1 |
T |
A |
11: 69,875,222 (GRCm39) |
|
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,168,918 (GRCm39) |
M212V |
possibly damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,041,397 (GRCm39) |
S273N |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,163 (GRCm39) |
S250P |
probably damaging |
Het |
| Dennd1b |
A |
G |
1: 139,095,409 (GRCm39) |
T486A |
probably benign |
Het |
| Disc1 |
A |
G |
8: 125,862,196 (GRCm39) |
T523A |
probably damaging |
Het |
| Dmbx1 |
A |
G |
4: 115,775,342 (GRCm39) |
S313P |
probably damaging |
Het |
| Dmpk |
C |
G |
7: 18,821,944 (GRCm39) |
L301V |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,049,432 (GRCm39) |
E1664G |
probably damaging |
Het |
| Dpysl3 |
A |
T |
18: 43,571,103 (GRCm39) |
V57E |
probably damaging |
Het |
| Fam98a |
C |
T |
17: 75,845,576 (GRCm39) |
G390E |
unknown |
Het |
| Hook3 |
C |
A |
8: 26,609,017 (GRCm39) |
R9L |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Impg2 |
A |
G |
16: 56,063,989 (GRCm39) |
D298G |
probably benign |
Het |
| Inf2 |
T |
A |
12: 112,566,579 (GRCm39) |
V48D |
probably damaging |
Het |
| Itprid1 |
T |
A |
6: 55,955,275 (GRCm39) |
L961H |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 192,187,999 (GRCm39) |
G820D |
probably benign |
Het |
| Lsm14a |
C |
T |
7: 34,088,789 (GRCm39) |
A39T |
possibly damaging |
Het |
| Muc2 |
T |
C |
7: 141,307,456 (GRCm39) |
C804R |
probably damaging |
Het |
| Nim1k |
C |
T |
13: 120,189,335 (GRCm39) |
V25M |
probably benign |
Het |
| Or11g25 |
T |
A |
14: 50,723,509 (GRCm39) |
L198* |
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,421,457 (GRCm39) |
M1V |
probably null |
Het |
| Or5b122 |
T |
A |
19: 13,563,439 (GRCm39) |
M257K |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,158,205 (GRCm39) |
T238A |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Phf8-ps |
T |
C |
17: 33,284,231 (GRCm39) |
D857G |
probably benign |
Het |
| Pitrm1 |
T |
A |
13: 6,627,468 (GRCm39) |
H856Q |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,793,349 (GRCm39) |
C1679R |
probably benign |
Het |
| Pkp4 |
T |
A |
2: 59,140,617 (GRCm39) |
L441* |
probably null |
Het |
| Ppp4r4 |
T |
C |
12: 103,550,427 (GRCm39) |
F284L |
probably benign |
Het |
| Ptprt |
T |
A |
2: 161,539,969 (GRCm39) |
K769M |
probably damaging |
Het |
| Rbm12 |
G |
T |
2: 155,945,285 (GRCm39) |
|
probably benign |
Het |
| Rpf1 |
T |
C |
3: 146,225,146 (GRCm39) |
D94G |
possibly damaging |
Het |
| Scap |
G |
T |
9: 110,203,597 (GRCm39) |
K310N |
probably damaging |
Het |
| Smpd2 |
C |
T |
10: 41,364,698 (GRCm39) |
|
probably benign |
Het |
| Sp110 |
TC |
TCC |
1: 85,519,290 (GRCm39) |
|
probably null |
Het |
| Specc1l |
T |
A |
10: 75,082,539 (GRCm39) |
I662N |
possibly damaging |
Het |
| Sptan1 |
T |
A |
2: 29,901,340 (GRCm39) |
V1496D |
probably damaging |
Het |
| Srrm4 |
T |
C |
5: 116,609,319 (GRCm39) |
|
probably benign |
Het |
| Tdrd3 |
C |
T |
14: 87,718,227 (GRCm39) |
Q203* |
probably null |
Het |
| Tfap2b |
A |
T |
1: 19,296,722 (GRCm39) |
M222L |
probably benign |
Het |
| Tmem43 |
G |
A |
6: 91,450,872 (GRCm39) |
A2T |
probably benign |
Het |
| Trav9-1 |
T |
A |
14: 53,725,833 (GRCm39) |
I49N |
probably benign |
Het |
| Trim23 |
T |
G |
13: 104,335,205 (GRCm39) |
N410K |
probably damaging |
Het |
| Ttbk1 |
T |
C |
17: 46,778,342 (GRCm39) |
T567A |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,070,886 (GRCm39) |
N1081S |
possibly damaging |
Het |
| Zfp451 |
A |
C |
1: 33,852,887 (GRCm39) |
I9R |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,323,681 (GRCm39) |
M92K |
probably benign |
Het |
| Zfp618 |
G |
A |
4: 63,013,729 (GRCm39) |
G198D |
probably benign |
Het |
| Zfp637 |
G |
T |
6: 117,820,270 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Taf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Taf2
|
APN |
15 |
54,934,845 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00475:Taf2
|
APN |
15 |
54,919,246 (GRCm39) |
nonsense |
probably null |
|
|
IGL00549:Taf2
|
APN |
15 |
54,894,511 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00839:Taf2
|
APN |
15 |
54,909,174 (GRCm39) |
nonsense |
probably null |
|
|
IGL01089:Taf2
|
APN |
15 |
54,879,977 (GRCm39) |
missense |
probably benign |
|
|
IGL01305:Taf2
|
APN |
15 |
54,911,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01532:Taf2
|
APN |
15 |
54,912,882 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01903:Taf2
|
APN |
15 |
54,923,412 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02324:Taf2
|
APN |
15 |
54,891,772 (GRCm39) |
missense |
probably benign |
|
|
IGL02328:Taf2
|
APN |
15 |
54,891,772 (GRCm39) |
missense |
probably benign |
|
|
IGL02405:Taf2
|
APN |
15 |
54,897,551 (GRCm39) |
splice site |
probably benign |
|
|
IGL02671:Taf2
|
APN |
15 |
54,897,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02832:Taf2
|
APN |
15 |
54,879,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03105:Taf2
|
APN |
15 |
54,909,195 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL03118:Taf2
|
APN |
15 |
54,915,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
ANU22:Taf2
|
UTSW |
15 |
54,911,670 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0104:Taf2
|
UTSW |
15 |
54,901,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0104:Taf2
|
UTSW |
15 |
54,901,734 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0183:Taf2
|
UTSW |
15 |
54,919,186 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0326:Taf2
|
UTSW |
15 |
54,910,856 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0362:Taf2
|
UTSW |
15 |
54,909,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0423:Taf2
|
UTSW |
15 |
54,928,078 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0562:Taf2
|
UTSW |
15 |
54,885,584 (GRCm39) |
splice site |
probably benign |
|
|
R0609:Taf2
|
UTSW |
15 |
54,923,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Taf2
|
UTSW |
15 |
54,901,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Taf2
|
UTSW |
15 |
54,926,461 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0743:Taf2
|
UTSW |
15 |
54,879,857 (GRCm39) |
small deletion |
probably benign |
|
|
R0898:Taf2
|
UTSW |
15 |
54,923,480 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0969:Taf2
|
UTSW |
15 |
54,894,553 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0974:Taf2
|
UTSW |
15 |
54,879,857 (GRCm39) |
small deletion |
probably benign |
|
|
R1145:Taf2
|
UTSW |
15 |
54,879,857 (GRCm39) |
small deletion |
probably benign |
|
|
R1145:Taf2
|
UTSW |
15 |
54,879,857 (GRCm39) |
small deletion |
probably benign |
|
|
R1160:Taf2
|
UTSW |
15 |
54,934,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1376:Taf2
|
UTSW |
15 |
54,879,857 (GRCm39) |
small deletion |
probably benign |
|
|
R1388:Taf2
|
UTSW |
15 |
54,900,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1416:Taf2
|
UTSW |
15 |
54,901,806 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1458:Taf2
|
UTSW |
15 |
54,923,311 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1477:Taf2
|
UTSW |
15 |
54,925,568 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1755:Taf2
|
UTSW |
15 |
54,879,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1766:Taf2
|
UTSW |
15 |
54,934,793 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2090:Taf2
|
UTSW |
15 |
54,879,882 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2228:Taf2
|
UTSW |
15 |
54,928,042 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2519:Taf2
|
UTSW |
15 |
54,915,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4073:Taf2
|
UTSW |
15 |
54,915,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4470:Taf2
|
UTSW |
15 |
54,922,276 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4471:Taf2
|
UTSW |
15 |
54,922,276 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4472:Taf2
|
UTSW |
15 |
54,922,276 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4716:Taf2
|
UTSW |
15 |
54,929,364 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4937:Taf2
|
UTSW |
15 |
54,890,619 (GRCm39) |
nonsense |
probably null |
|
|
R5082:Taf2
|
UTSW |
15 |
54,923,441 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5335:Taf2
|
UTSW |
15 |
54,909,136 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5771:Taf2
|
UTSW |
15 |
54,923,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5862:Taf2
|
UTSW |
15 |
54,911,719 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5873:Taf2
|
UTSW |
15 |
54,901,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5908:Taf2
|
UTSW |
15 |
54,935,402 (GRCm39) |
unclassified |
probably benign |
|
|
R6033:Taf2
|
UTSW |
15 |
54,922,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Taf2
|
UTSW |
15 |
54,922,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6159:Taf2
|
UTSW |
15 |
54,926,440 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R6568:Taf2
|
UTSW |
15 |
54,928,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7094:Taf2
|
UTSW |
15 |
54,923,482 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7174:Taf2
|
UTSW |
15 |
54,912,135 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7241:Taf2
|
UTSW |
15 |
54,925,537 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7561:Taf2
|
UTSW |
15 |
54,919,229 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7583:Taf2
|
UTSW |
15 |
54,928,072 (GRCm39) |
nonsense |
probably null |
|
|
R7818:Taf2
|
UTSW |
15 |
54,929,326 (GRCm39) |
missense |
probably benign |
|
|
R7905:Taf2
|
UTSW |
15 |
54,910,828 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8006:Taf2
|
UTSW |
15 |
54,912,097 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8017:Taf2
|
UTSW |
15 |
54,928,013 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8019:Taf2
|
UTSW |
15 |
54,928,013 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8119:Taf2
|
UTSW |
15 |
54,894,526 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8127:Taf2
|
UTSW |
15 |
54,923,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8128:Taf2
|
UTSW |
15 |
54,923,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8129:Taf2
|
UTSW |
15 |
54,923,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8278:Taf2
|
UTSW |
15 |
54,929,361 (GRCm39) |
nonsense |
probably null |
|
|
R8290:Taf2
|
UTSW |
15 |
54,926,416 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8762:Taf2
|
UTSW |
15 |
54,910,849 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8832:Taf2
|
UTSW |
15 |
54,928,001 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8916:Taf2
|
UTSW |
15 |
54,899,931 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8937:Taf2
|
UTSW |
15 |
54,910,849 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9006:Taf2
|
UTSW |
15 |
54,909,301 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9138:Taf2
|
UTSW |
15 |
54,879,857 (GRCm39) |
small deletion |
probably benign |
|
|
R9240:Taf2
|
UTSW |
15 |
54,926,464 (GRCm39) |
missense |
probably null |
1.00 |
|
R9257:Taf2
|
UTSW |
15 |
54,929,409 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9485:Taf2
|
UTSW |
15 |
54,911,667 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9762:Taf2
|
UTSW |
15 |
54,894,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9766:Taf2
|
UTSW |
15 |
54,910,881 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9796:Taf2
|
UTSW |
15 |
54,910,832 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGGAAGGCGCGTCAGAAG -3'
(R):5'- GTAAATGATCGAATGATGCGCC -3'
Sequencing Primer
(F):5'- CGCGTCAGAAGATATAAGTCACAGC -3'
(R):5'- ATCGAATGATGCGCCAGTGC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation