Incidental Mutation 'R6789:Taf11'
| ID |
532949 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf11
|
| Ensembl Gene |
ENSMUSG00000024218 |
| Gene Name |
TATA-box binding protein associated factor 11 |
| Synonyms |
TAF2I, PRO214, 28kDa, TAFII28, 1110038O14Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6789 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
28120096-28128723 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 28126492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 52
(A52S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110498
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025057]
[ENSMUST00000025058]
[ENSMUST00000088027]
[ENSMUST00000114842]
[ENSMUST00000114848]
|
| AlphaFold |
Q99JX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025057
AA Change: A52S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000025057
Gene: ENSMUSG00000024218
AA Change: A52S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
105 |
N/A |
INTRINSIC |
|
Pfam:TAFII28
|
106 |
194 |
1.7e-38 |
PFAM |
|
Pfam:CBFD_NFYB_HMF
|
127 |
191 |
8.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025058
|
| SMART Domains |
Protein: ENSMUSP00000025058
Gene: ENSMUSG00000024219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
165 |
194 |
1.88e-5 |
SMART |
|
ANK
|
198 |
227 |
1.93e-2 |
SMART |
|
ANK
|
231 |
260 |
1.64e-5 |
SMART |
|
ANK
|
263 |
292 |
7.71e-2 |
SMART |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
|
SAM
|
709 |
778 |
3.2e-16 |
SMART |
|
SAM
|
783 |
851 |
4.33e-13 |
SMART |
|
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
|
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
|
low complexity region
|
1126 |
1135 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088027
|
| SMART Domains |
Protein: ENSMUSP00000085344
Gene: ENSMUSG00000024219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
144 |
173 |
1.88e-5 |
SMART |
|
ANK
|
177 |
206 |
1.93e-2 |
SMART |
|
ANK
|
210 |
239 |
1.64e-5 |
SMART |
|
ANK
|
242 |
271 |
7.71e-2 |
SMART |
|
low complexity region
|
398 |
418 |
N/A |
INTRINSIC |
|
low complexity region
|
612 |
626 |
N/A |
INTRINSIC |
|
SAM
|
688 |
757 |
3.2e-16 |
SMART |
|
SAM
|
762 |
830 |
4.33e-13 |
SMART |
|
Blast:PTB
|
840 |
898 |
2e-22 |
BLAST |
|
PTB
|
932 |
1066 |
3.17e-43 |
SMART |
|
low complexity region
|
1105 |
1114 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114842
|
| SMART Domains |
Protein: ENSMUSP00000110491
Gene: ENSMUSG00000024219
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
62 |
N/A |
INTRINSIC |
|
ANK
|
75 |
104 |
1.08e-5 |
SMART |
|
ANK
|
108 |
137 |
7.42e-4 |
SMART |
|
ANK
|
165 |
194 |
1.88e-5 |
SMART |
|
ANK
|
198 |
227 |
1.93e-2 |
SMART |
|
ANK
|
231 |
260 |
1.64e-5 |
SMART |
|
ANK
|
263 |
292 |
7.71e-2 |
SMART |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
633 |
647 |
N/A |
INTRINSIC |
|
SAM
|
709 |
778 |
3.2e-16 |
SMART |
|
SAM
|
783 |
851 |
4.33e-13 |
SMART |
|
Blast:PTB
|
861 |
919 |
2e-22 |
BLAST |
|
PTB
|
953 |
1087 |
3.17e-43 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114848
AA Change: A52S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000110498
Gene: ENSMUSG00000024218
AA Change: A52S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
60 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
105 |
N/A |
INTRINSIC |
|
Pfam:TAFII28
|
108 |
193 |
3.1e-40 |
PFAM |
|
Pfam:CBFD_NFYB_HMF
|
127 |
191 |
6.8e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| 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 a small subunit of TFIID that is present in all TFIID complexes and interacts with TBP. This subunit also interacts with another small subunit, TAF13, to form a heterodimer with a structure similar to the histone core structure. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
T |
A |
1: 58,343,644 (GRCm39) |
D442E |
probably benign |
Het |
| Arl6ip4 |
G |
A |
5: 124,254,665 (GRCm39) |
G53R |
probably damaging |
Het |
| Asns |
T |
C |
6: 7,675,344 (GRCm39) |
T553A |
probably benign |
Het |
| Atp1a1 |
T |
A |
3: 101,493,614 (GRCm39) |
N497Y |
possibly damaging |
Het |
| Birc2 |
T |
C |
9: 7,836,966 (GRCm39) |
|
probably benign |
Het |
| Catsperd |
C |
A |
17: 56,961,426 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,406,210 (GRCm39) |
Q2341K |
possibly damaging |
Het |
| Dydc2 |
C |
A |
14: 40,771,296 (GRCm39) |
V128L |
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,923,284 (GRCm39) |
|
probably null |
Het |
| Efna3 |
C |
T |
3: 89,223,769 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
C |
T |
18: 58,143,686 (GRCm39) |
E2790K |
probably benign |
Het |
| Fhip1a |
A |
T |
3: 85,579,865 (GRCm39) |
L780* |
probably null |
Het |
| Gm11569 |
C |
A |
11: 99,689,657 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,507,412 (GRCm39) |
G39D |
probably damaging |
Het |
| Igkv6-17 |
A |
G |
6: 70,348,692 (GRCm39) |
D21G |
probably benign |
Het |
| Klra4 |
T |
C |
6: 130,039,182 (GRCm39) |
Q70R |
probably damaging |
Het |
| Krtap31-2 |
C |
T |
11: 99,827,549 (GRCm39) |
S127F |
possibly damaging |
Het |
| Lingo4 |
G |
T |
3: 94,306,662 (GRCm39) |
|
probably benign |
Het |
| Lrp2bp |
A |
G |
8: 46,466,151 (GRCm39) |
K87E |
possibly damaging |
Het |
| Macf1 |
A |
T |
4: 123,266,231 (GRCm39) |
M5333K |
probably damaging |
Het |
| Mmp13 |
A |
T |
9: 7,272,781 (GRCm39) |
Y47F |
probably benign |
Het |
| Muc16 |
G |
A |
9: 18,471,282 (GRCm39) |
P7261S |
probably benign |
Het |
| Nostrin |
G |
T |
2: 69,005,856 (GRCm39) |
M212I |
probably benign |
Het |
| Nr1h5 |
G |
A |
3: 102,865,677 (GRCm39) |
T8M |
possibly damaging |
Het |
| Nup153 |
A |
T |
13: 46,870,792 (GRCm39) |
L41H |
probably damaging |
Het |
| Or10b1 |
T |
C |
10: 78,355,802 (GRCm39) |
L120P |
noncoding transcript |
Het |
| Or5b97 |
T |
A |
19: 12,878,653 (GRCm39) |
I164L |
probably benign |
Het |
| Pappa |
A |
T |
4: 65,099,278 (GRCm39) |
D599V |
probably damaging |
Het |
| Pcdh18 |
G |
A |
3: 49,710,364 (GRCm39) |
T317I |
probably benign |
Het |
| Pcsk5 |
T |
A |
19: 17,434,150 (GRCm39) |
N1406I |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 115,961,419 (GRCm39) |
Y1027N |
probably damaging |
Het |
| Prpf6 |
T |
A |
2: 181,257,844 (GRCm39) |
Y105* |
probably null |
Het |
| Rab5a |
C |
T |
17: 53,804,650 (GRCm39) |
P87S |
probably damaging |
Het |
| Rnf8 |
T |
A |
17: 29,854,843 (GRCm39) |
W433R |
probably damaging |
Het |
| Slc18b1 |
T |
A |
10: 23,692,227 (GRCm39) |
V232D |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,665,555 (GRCm39) |
F26L |
probably benign |
Het |
| Trav9-2 |
T |
C |
14: 53,828,819 (GRCm39) |
L63P |
possibly damaging |
Het |
| Zfat |
T |
C |
15: 67,956,235 (GRCm39) |
Y1199C |
probably damaging |
Het |
|
| Other mutations in Taf11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0115:Taf11
|
UTSW |
17 |
28,126,635 (GRCm39) |
missense |
probably benign |
|
|
R1627:Taf11
|
UTSW |
17 |
28,124,253 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3782:Taf11
|
UTSW |
17 |
28,122,167 (GRCm39) |
unclassified |
probably benign |
|
|
R4126:Taf11
|
UTSW |
17 |
28,120,746 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5861:Taf11
|
UTSW |
17 |
28,120,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8500:Taf11
|
UTSW |
17 |
28,121,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9714:Taf11
|
UTSW |
17 |
28,122,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGAATAGGGCTCTAACAG -3'
(R):5'- CGTTTATATGAATCCCCTGGGC -3'
Sequencing Primer
(F):5'- AGCACCTACACCTTCCCGTTC -3'
(R):5'- ACCAACGCGCTTCTGGAAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation