Incidental Mutation 'IGL02208:Taf6'
| ID |
284600 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taf6
|
| Ensembl Gene |
ENSMUSG00000036980 |
| Gene Name |
TATA-box binding protein associated factor 6 |
| Synonyms |
p80, 80kDa, Taf2e |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02208
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138176879-138185713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 138179169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 423
(V423E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019662]
[ENSMUST00000048698]
[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 |
probably damaging
Transcript: ENSMUST00000048698
AA Change: V423E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000048016
Gene: ENSMUSG00000036980
AA Change: V423E
| 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 damaging
Transcript: ENSMUST00000110936
AA Change: V423E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106561
Gene: ENSMUSG00000036980
AA Change: V423E
| 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 damaging
Transcript: ENSMUST00000110937
AA Change: V423E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106562
Gene: ENSMUSG00000036980
AA Change: V423E
| 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 |
probably benign
Transcript: ENSMUST00000123415
|
| SMART Domains |
Protein: ENSMUSP00000122534
Gene: ENSMUSG00000036980
| 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: ENSMUST00000130473
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134100
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142687
|
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,950,772 (GRCm39) |
Y898H |
probably damaging |
Het |
| Abr |
T |
C |
11: 76,346,471 (GRCm39) |
T484A |
probably damaging |
Het |
| Ahsg |
G |
A |
16: 22,711,060 (GRCm39) |
V66I |
possibly damaging |
Het |
| Arhgef5 |
T |
G |
6: 43,252,064 (GRCm39) |
D938E |
probably benign |
Het |
| Asap1 |
T |
A |
15: 63,993,882 (GRCm39) |
E731V |
probably damaging |
Het |
| Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,065,899 (GRCm39) |
I368T |
probably benign |
Het |
| Dse |
T |
A |
10: 34,028,433 (GRCm39) |
M886L |
probably benign |
Het |
| Efcab11 |
A |
G |
12: 99,820,861 (GRCm39) |
|
probably benign |
Het |
| Eri2 |
G |
A |
7: 119,385,158 (GRCm39) |
P448S |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,122,329 (GRCm39) |
D37G |
possibly damaging |
Het |
| Lrrc39 |
A |
T |
3: 116,371,923 (GRCm39) |
Q230L |
probably damaging |
Het |
| Macrod2 |
C |
A |
2: 142,216,196 (GRCm39) |
S443Y |
possibly damaging |
Het |
| Map4 |
T |
A |
9: 109,807,938 (GRCm39) |
M1K |
probably null |
Het |
| Misfa |
T |
C |
7: 46,633,572 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
G |
A |
11: 67,142,760 (GRCm39) |
A974T |
possibly damaging |
Het |
| Npm3 |
T |
C |
19: 45,737,299 (GRCm39) |
T72A |
probably benign |
Het |
| Or14j1 |
T |
C |
17: 38,146,415 (GRCm39) |
F175S |
probably damaging |
Het |
| P3h4 |
T |
C |
11: 100,304,901 (GRCm39) |
N162S |
probably damaging |
Het |
| Pcnx2 |
G |
T |
8: 126,478,894 (GRCm39) |
T2118N |
probably benign |
Het |
| Pla2r1 |
G |
T |
2: 60,258,932 (GRCm39) |
P1152Q |
possibly damaging |
Het |
| Pole2 |
C |
T |
12: 69,269,936 (GRCm39) |
E63K |
possibly damaging |
Het |
| Polr3e |
T |
A |
7: 120,531,363 (GRCm39) |
F151I |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,862,313 (GRCm39) |
T326A |
probably benign |
Het |
| Prdm8 |
G |
T |
5: 98,331,324 (GRCm39) |
A59S |
possibly damaging |
Het |
| Reps1 |
A |
G |
10: 17,994,770 (GRCm39) |
N538S |
probably damaging |
Het |
| Scube1 |
T |
C |
15: 83,587,741 (GRCm39) |
D76G |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,021,225 (GRCm39) |
F302L |
probably damaging |
Het |
| Skic2 |
A |
T |
17: 35,060,651 (GRCm39) |
I822N |
probably damaging |
Het |
| Slc17a7 |
T |
C |
7: 44,820,367 (GRCm39) |
I299T |
probably damaging |
Het |
| Slc25a26 |
T |
A |
6: 94,484,520 (GRCm39) |
V20E |
probably damaging |
Het |
| Spem2 |
T |
C |
11: 69,708,089 (GRCm39) |
|
probably null |
Het |
| Stat5b |
A |
C |
11: 100,695,739 (GRCm39) |
F81C |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,606,020 (GRCm39) |
Y551F |
probably damaging |
Het |
| Tgm6 |
A |
T |
2: 129,977,790 (GRCm39) |
D43V |
probably benign |
Het |
| Tubb3 |
G |
T |
8: 124,147,603 (GRCm39) |
V179L |
probably damaging |
Het |
| Ubr1 |
G |
A |
2: 120,776,830 (GRCm39) |
H304Y |
probably benign |
Het |
| Vmn2r56 |
T |
G |
7: 12,449,408 (GRCm39) |
M277L |
probably benign |
Het |
| Wdr72 |
G |
A |
9: 74,064,581 (GRCm39) |
V538M |
probably damaging |
Het |
|
| Other mutations in Taf6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R1082:Taf6
|
UTSW |
5 |
138,180,949 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation