Incidental Mutation 'R1082:Taf6'
ID |
85863 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taf6
|
Ensembl Gene |
ENSMUSG00000036980 |
Gene Name |
TATA-box binding protein associated factor 6 |
Synonyms |
p80, 80kDa, Taf2e |
MMRRC Submission |
039168-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1082 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138176879-138185713 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 138180949 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 211
(R211C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122534
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019662]
[ENSMUST00000048698]
[ENSMUST00000110934]
[ENSMUST00000110936]
[ENSMUST00000110937]
[ENSMUST00000123415]
[ENSMUST00000153117]
[ENSMUST00000143241]
[ENSMUST00000139276]
|
AlphaFold |
Q62311 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019662
|
SMART Domains |
Protein: ENSMUSP00000019662 Gene: ENSMUSG00000019518
Domain | Start | End | E-Value | Type |
SCOP:d1gw5m2
|
1 |
142 |
2e-49 |
SMART |
Pfam:Adap_comp_sub
|
173 |
449 |
2.5e-63 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048698
AA Change: R211C
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000048016 Gene: ENSMUSG00000036980 AA Change: R211C
Domain | Start | End | E-Value | Type |
TAF
|
12 |
78 |
1.44e-35 |
SMART |
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
low complexity region
|
179 |
197 |
N/A |
INTRINSIC |
Pfam:DUF1546
|
308 |
399 |
1e-35 |
PFAM |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
low complexity region
|
542 |
578 |
N/A |
INTRINSIC |
low complexity region
|
586 |
602 |
N/A |
INTRINSIC |
low complexity region
|
615 |
646 |
N/A |
INTRINSIC |
low complexity region
|
665 |
676 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110934
|
SMART Domains |
Protein: ENSMUSP00000106559 Gene: ENSMUSG00000036968
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
27 |
N/A |
INTRINSIC |
Pfam:DUF3456
|
43 |
202 |
3.4e-51 |
PFAM |
low complexity region
|
218 |
230 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110936
AA Change: R211C
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106561 Gene: ENSMUSG00000036980 AA Change: R211C
Domain | Start | End | E-Value | Type |
TAF
|
12 |
78 |
1.44e-35 |
SMART |
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
low complexity region
|
179 |
197 |
N/A |
INTRINSIC |
Pfam:TAF6_C
|
308 |
397 |
1.1e-33 |
PFAM |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
low complexity region
|
542 |
578 |
N/A |
INTRINSIC |
low complexity region
|
586 |
602 |
N/A |
INTRINSIC |
low complexity region
|
615 |
646 |
N/A |
INTRINSIC |
low complexity region
|
665 |
676 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110937
AA Change: R211C
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000106562 Gene: ENSMUSG00000036980 AA Change: R211C
Domain | Start | End | E-Value | Type |
TAF
|
12 |
78 |
1.44e-35 |
SMART |
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
low complexity region
|
179 |
197 |
N/A |
INTRINSIC |
Pfam:DUF1546
|
308 |
399 |
1.9e-36 |
PFAM |
low complexity region
|
466 |
476 |
N/A |
INTRINSIC |
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
low complexity region
|
542 |
549 |
N/A |
INTRINSIC |
low complexity region
|
559 |
576 |
N/A |
INTRINSIC |
low complexity region
|
606 |
615 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000123415
AA Change: R211C
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000122534 Gene: ENSMUSG00000036980 AA Change: R211C
Domain | Start | End | E-Value | Type |
TAF
|
12 |
78 |
1.44e-35 |
SMART |
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
low complexity region
|
179 |
197 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200483
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134100
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130473
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153117
|
SMART Domains |
Protein: ENSMUSP00000138335 Gene: ENSMUSG00000036980
Domain | Start | End | E-Value | Type |
TAF
|
12 |
78 |
1.44e-35 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143241
|
SMART Domains |
Protein: ENSMUSP00000123770 Gene: ENSMUSG00000019518
Domain | Start | End | E-Value | Type |
SCOP:d1gw5m2
|
1 |
86 |
2e-25 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139276
|
SMART Domains |
Protein: ENSMUSP00000116512 Gene: ENSMUSG00000036980
Domain | Start | End | E-Value | Type |
Pfam:TAF
|
11 |
55 |
2.5e-22 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.1%
|
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 one of the smaller subunits of TFIID that binds weakly to TBP but strongly to TAF1, the largest subunit of TFIID. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2010] PHENOTYPE: Mice homozygous for a transgenic gene disruption may exhibit preimplantation lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
G |
A |
3: 137,879,332 (GRCm39) |
R239C |
possibly damaging |
Het |
Aass |
T |
A |
6: 23,093,907 (GRCm39) |
D138V |
probably damaging |
Het |
Adam30 |
T |
C |
3: 98,069,606 (GRCm39) |
S480P |
probably benign |
Het |
Bdkrb2 |
T |
A |
12: 105,558,851 (GRCm39) |
M364K |
probably benign |
Het |
Bnc2 |
T |
C |
4: 84,464,572 (GRCm39) |
D67G |
probably damaging |
Het |
Cfap52 |
A |
G |
11: 67,815,998 (GRCm39) |
I595T |
probably damaging |
Het |
Clspn |
A |
T |
4: 126,471,572 (GRCm39) |
N909Y |
possibly damaging |
Het |
Ddx46 |
T |
C |
13: 55,802,909 (GRCm39) |
V477A |
possibly damaging |
Het |
Dna2 |
C |
T |
10: 62,784,966 (GRCm39) |
R28W |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,677,668 (GRCm39) |
S419P |
probably damaging |
Het |
Fat3 |
A |
G |
9: 15,917,911 (GRCm39) |
F1504S |
probably damaging |
Het |
Guf1 |
G |
T |
5: 69,724,555 (GRCm39) |
V416L |
possibly damaging |
Het |
Hsd11b2 |
A |
G |
8: 106,249,783 (GRCm39) |
D298G |
probably damaging |
Het |
Mipol1 |
A |
T |
12: 57,372,402 (GRCm39) |
I154F |
probably damaging |
Het |
Myo18b |
A |
G |
5: 112,908,280 (GRCm39) |
S1998P |
probably damaging |
Het |
Myo6 |
C |
T |
9: 80,195,303 (GRCm39) |
T891M |
probably damaging |
Het |
Nbeal1 |
T |
A |
1: 60,351,385 (GRCm39) |
I2461K |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,806,364 (GRCm39) |
F1767S |
probably damaging |
Het |
Or7e178 |
A |
T |
9: 20,225,765 (GRCm39) |
H150Q |
possibly damaging |
Het |
Pi4ka |
A |
T |
16: 17,207,216 (GRCm39) |
S30T |
probably damaging |
Het |
Ppp1r26 |
A |
G |
2: 28,342,146 (GRCm39) |
D592G |
probably damaging |
Het |
Ptp4a2 |
T |
C |
4: 129,741,580 (GRCm39) |
F157L |
probably benign |
Het |
Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
Shank3 |
T |
C |
15: 89,433,574 (GRCm39) |
S1365P |
probably damaging |
Het |
Slc27a6 |
T |
A |
18: 58,689,632 (GRCm39) |
Y33N |
probably damaging |
Het |
Slco1a7 |
C |
T |
6: 141,657,859 (GRCm39) |
G560S |
probably damaging |
Het |
Speg |
T |
A |
1: 75,391,782 (GRCm39) |
S1572T |
possibly damaging |
Het |
Tyrobp |
T |
C |
7: 30,114,033 (GRCm39) |
S65P |
probably damaging |
Het |
|
Other mutations in Taf6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02208:Taf6
|
APN |
5 |
138,179,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02445:Taf6
|
APN |
5 |
138,182,756 (GRCm39) |
utr 5 prime |
probably benign |
|
IGL02734:Taf6
|
APN |
5 |
138,182,118 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02861:Taf6
|
APN |
5 |
138,182,147 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02983:Taf6
|
APN |
5 |
138,177,142 (GRCm39) |
missense |
probably benign |
|
PIT4515001:Taf6
|
UTSW |
5 |
138,180,504 (GRCm39) |
missense |
probably benign |
0.32 |
R0189:Taf6
|
UTSW |
5 |
138,180,975 (GRCm39) |
missense |
probably benign |
0.00 |
R0344:Taf6
|
UTSW |
5 |
138,179,409 (GRCm39) |
missense |
probably benign |
0.09 |
R0567:Taf6
|
UTSW |
5 |
138,181,988 (GRCm39) |
splice site |
probably null |
|
R2375:Taf6
|
UTSW |
5 |
138,180,463 (GRCm39) |
nonsense |
probably null |
|
R4466:Taf6
|
UTSW |
5 |
138,179,463 (GRCm39) |
splice site |
probably benign |
|
R4845:Taf6
|
UTSW |
5 |
138,180,909 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4959:Taf6
|
UTSW |
5 |
138,181,465 (GRCm39) |
nonsense |
probably null |
|
R4973:Taf6
|
UTSW |
5 |
138,181,465 (GRCm39) |
nonsense |
probably null |
|
R5059:Taf6
|
UTSW |
5 |
138,177,709 (GRCm39) |
missense |
probably benign |
0.15 |
R5232:Taf6
|
UTSW |
5 |
138,178,214 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7211:Taf6
|
UTSW |
5 |
138,177,088 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7505:Taf6
|
UTSW |
5 |
138,178,207 (GRCm39) |
nonsense |
probably null |
|
R7776:Taf6
|
UTSW |
5 |
138,180,282 (GRCm39) |
missense |
probably damaging |
1.00 |
R8163:Taf6
|
UTSW |
5 |
138,180,238 (GRCm39) |
missense |
possibly damaging |
0.83 |
R8278:Taf6
|
UTSW |
5 |
138,178,097 (GRCm39) |
missense |
probably benign |
0.12 |
R8464:Taf6
|
UTSW |
5 |
138,180,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R8910:Taf6
|
UTSW |
5 |
138,182,716 (GRCm39) |
missense |
probably benign |
0.06 |
R9074:Taf6
|
UTSW |
5 |
138,180,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R9157:Taf6
|
UTSW |
5 |
138,179,221 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9161:Taf6
|
UTSW |
5 |
138,178,160 (GRCm39) |
missense |
probably benign |
0.00 |
R9254:Taf6
|
UTSW |
5 |
138,181,952 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9379:Taf6
|
UTSW |
5 |
138,181,952 (GRCm39) |
missense |
possibly damaging |
0.59 |
R9447:Taf6
|
UTSW |
5 |
138,176,970 (GRCm39) |
makesense |
probably null |
|
X0019:Taf6
|
UTSW |
5 |
138,180,462 (GRCm39) |
critical splice donor site |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAGCCCTCAGATGAACCTACCTTG -3'
(R):5'- AGCCCAGACGCCTATAGAAGAGTTG -3'
Sequencing Primer
(F):5'- CCCTCTGAGATGAAGGTACTG -3'
(R):5'- tgtgtgtgtgtgtgtTAGCTATC -3'
|
Posted On |
2013-11-18 |