Incidental Mutation 'R5269:Taf6l'
| ID |
400142 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf6l
|
| Ensembl Gene |
ENSMUSG00000003680 |
| Gene Name |
TATA-box binding protein associated factor 6 like |
| Synonyms |
PAF65A, 2810417N14Rik, C530024J06Rik |
| MMRRC Submission |
042834-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R5269 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8751851-8763781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 8752326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 454
(E454G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003777]
[ENSMUST00000010241]
[ENSMUST00000010248]
[ENSMUST00000010249]
[ENSMUST00000176496]
[ENSMUST00000176610]
[ENSMUST00000189739]
[ENSMUST00000177056]
[ENSMUST00000177216]
[ENSMUST00000184970]
|
| AlphaFold |
Q8R2K4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003777
AA Change: E479G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000003777
Gene: ENSMUSG00000003680
AA Change: E479G
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
16 |
79 |
9.03e-28 |
SMART |
|
Pfam:DUF1546
|
248 |
339 |
4.5e-29 |
PFAM |
|
low complexity region
|
565 |
576 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010241
|
| SMART Domains |
Protein: ENSMUSP00000010241
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
Pfam:Tap-RNA_bind
|
115 |
198 |
7.6e-42 |
PFAM |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
LRRcap
|
333 |
351 |
1.44e0 |
SMART |
|
Pfam:NTF2
|
385 |
535 |
1.3e-29 |
PFAM |
|
TAP_C
|
555 |
618 |
1.85e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010248
|
| SMART Domains |
Protein: ENSMUSP00000010248
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM223
|
32 |
197 |
6.5e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010249
|
| SMART Domains |
Protein: ENSMUSP00000010249
Gene: ENSMUSG00000003680
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
62 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
86 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
182 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176080
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176496
AA Change: E455G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135090
Gene: ENSMUSG00000003680
AA Change: E455G
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
17 |
80 |
9.03e-28 |
SMART |
|
Pfam:DUF1546
|
224 |
315 |
4.3e-29 |
PFAM |
|
low complexity region
|
541 |
552 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000176610
AA Change: E480G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135193
Gene: ENSMUSG00000003680
AA Change: E480G
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
17 |
80 |
9.03e-28 |
SMART |
|
Pfam:TAF6_C
|
249 |
338 |
6.6e-22 |
PFAM |
|
low complexity region
|
566 |
577 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189739
AA Change: E454G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000140136
Gene: ENSMUSG00000003680
AA Change: E454G
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
16 |
79 |
3.8e-31 |
SMART |
|
Pfam:DUF1546
|
223 |
314 |
6.3e-26 |
PFAM |
|
low complexity region
|
540 |
551 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000177056
AA Change: E473G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000135028
Gene: ENSMUSG00000003680
AA Change: E473G
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
10 |
73 |
9.03e-28 |
SMART |
|
Pfam:DUF1546
|
242 |
333 |
4.5e-29 |
PFAM |
|
low complexity region
|
559 |
570 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177216
AA Change: E480G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000135220
Gene: ENSMUSG00000003680
AA Change: E480G
| Domain | Start | End | E-Value | Type |
|---|
|
TAF
|
17 |
80 |
9.03e-28 |
SMART |
|
Pfam:DUF1546
|
249 |
340 |
6.4e-29 |
PFAM |
|
low complexity region
|
566 |
577 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183898
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176719
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176747
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184808
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176688
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176991
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184970
|
| SMART Domains |
Protein: ENSMUSP00000139124
Gene: ENSMUSG00000010097
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
33 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
Pfam:Tap-RNA_bind
|
112 |
199 |
2.4e-45 |
PFAM |
|
low complexity region
|
258 |
274 |
N/A |
INTRINSIC |
|
Pfam:LRR_1
|
291 |
314 |
3.2e-2 |
PFAM |
|
| Meta Mutation Damage Score |
0.0866 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (71/71) |
| 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 protein that is a component of the PCAF histone acetylase complex and structurally similar to one of the histone-like TAFs, TAF6. The PCAF histone acetylase complex, which is composed of more than 20 polypeptides some of which are TAFs, is required for myogenic transcription and differentiation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
| Adam39 |
A |
G |
8: 41,279,018 (GRCm39) |
I470V |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,253,447 (GRCm39) |
C1708S |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,621,557 (GRCm39) |
I42T |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,186,626 (GRCm39) |
C1347R |
probably damaging |
Het |
| Antxr1 |
A |
G |
6: 87,157,165 (GRCm39) |
L452P |
probably damaging |
Het |
| Arhgef33 |
T |
A |
17: 80,677,704 (GRCm39) |
V417D |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,462,688 (GRCm39) |
I817M |
possibly damaging |
Het |
| Casp4 |
A |
T |
9: 5,321,521 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,861,882 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Cdr2 |
C |
T |
7: 120,557,557 (GRCm39) |
V323M |
possibly damaging |
Het |
| Cebpa |
G |
A |
7: 34,819,283 (GRCm39) |
R147H |
probably benign |
Het |
| Cetn4 |
C |
A |
3: 37,364,118 (GRCm39) |
E31* |
probably null |
Het |
| Cobll1 |
G |
A |
2: 64,964,115 (GRCm39) |
Q189* |
probably null |
Het |
| Colec12 |
A |
G |
18: 9,846,825 (GRCm39) |
T74A |
possibly damaging |
Het |
| Crisp4 |
A |
G |
1: 18,198,934 (GRCm39) |
S124P |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,178 (GRCm39) |
D55E |
probably damaging |
Het |
| Elmo1 |
C |
A |
13: 20,633,656 (GRCm39) |
N439K |
probably benign |
Het |
| Fabp12 |
T |
C |
3: 10,315,167 (GRCm39) |
N60S |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,178,704 (GRCm39) |
H1452L |
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,730,919 (GRCm39) |
S46P |
possibly damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,712 (GRCm39) |
V350A |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,889,301 (GRCm39) |
F626S |
probably damaging |
Het |
| Ghr |
T |
C |
15: 3,349,561 (GRCm39) |
Y539C |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,197,525 (GRCm39) |
T112A |
probably damaging |
Het |
| Gm7133 |
T |
A |
1: 97,110,848 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
A |
C |
3: 88,802,835 (GRCm39) |
I1149L |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,511,409 (GRCm39) |
D45N |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,215,989 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,818,618 (GRCm39) |
R2770* |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,683,553 (GRCm39) |
|
probably benign |
Het |
| Klb |
A |
G |
5: 65,506,140 (GRCm39) |
D129G |
probably damaging |
Het |
| Klf1 |
A |
G |
8: 85,629,969 (GRCm39) |
I265V |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,957 (GRCm39) |
E607G |
probably benign |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,757,639 (GRCm39) |
L457P |
probably damaging |
Het |
| Mrpl21 |
T |
A |
19: 3,337,012 (GRCm39) |
C128S |
probably damaging |
Het |
| Or51f23 |
T |
C |
7: 102,453,327 (GRCm39) |
V214A |
probably benign |
Het |
| Paqr4 |
G |
T |
17: 23,957,187 (GRCm39) |
H105Q |
probably damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,881,747 (GRCm39) |
I503V |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,821,271 (GRCm39) |
N151S |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,499,111 (GRCm39) |
T444A |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,031,064 (GRCm39) |
R851G |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ros1 |
T |
G |
10: 51,927,104 (GRCm39) |
Q2172P |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,309,984 (GRCm39) |
T86A |
probably benign |
Het |
| Rpl18a |
G |
A |
8: 71,348,932 (GRCm39) |
R15C |
possibly damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,108,684 (GRCm39) |
K258R |
probably benign |
Het |
| Ska3 |
T |
A |
14: 58,059,573 (GRCm39) |
E84V |
possibly damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,497,409 (GRCm39) |
|
probably null |
Het |
| Slf1 |
A |
T |
13: 77,252,700 (GRCm39) |
S274T |
probably benign |
Het |
| Spata21 |
A |
T |
4: 140,830,332 (GRCm39) |
Q267H |
probably damaging |
Het |
| Strbp |
A |
T |
2: 37,517,455 (GRCm39) |
W207R |
possibly damaging |
Het |
| Tcam1 |
C |
A |
11: 106,176,353 (GRCm39) |
L360I |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,922,582 (GRCm39) |
R2465H |
possibly damaging |
Het |
| Trim66 |
T |
A |
7: 109,056,797 (GRCm39) |
Y1120F |
probably benign |
Het |
| Trp53 |
T |
A |
11: 69,480,031 (GRCm39) |
M243K |
probably damaging |
Het |
| Ttl |
T |
A |
2: 128,910,831 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,240 (GRCm39) |
V34582A |
probably benign |
Het |
| Uqcrh |
T |
C |
4: 115,927,101 (GRCm39) |
T31A |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,923,504 (GRCm39) |
C256R |
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,839 (GRCm39) |
E232G |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,064,653 (GRCm39) |
I562F |
probably damaging |
Het |
| Wnt4 |
A |
G |
4: 137,005,061 (GRCm39) |
N24S |
probably benign |
Het |
|
| Other mutations in Taf6l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00467:Taf6l
|
APN |
19 |
8,760,752 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL00781:Taf6l
|
APN |
19 |
8,751,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01886:Taf6l
|
APN |
19 |
8,755,450 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02638:Taf6l
|
APN |
19 |
8,752,630 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02676:Taf6l
|
APN |
19 |
8,752,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Taf6l
|
UTSW |
19 |
8,755,881 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0110:Taf6l
|
UTSW |
19 |
8,755,885 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0469:Taf6l
|
UTSW |
19 |
8,755,885 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0510:Taf6l
|
UTSW |
19 |
8,755,885 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0676:Taf6l
|
UTSW |
19 |
8,750,733 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0711:Taf6l
|
UTSW |
19 |
8,755,881 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1804:Taf6l
|
UTSW |
19 |
8,750,998 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1971:Taf6l
|
UTSW |
19 |
8,752,866 (GRCm39) |
splice site |
probably null |
|
|
R2869:Taf6l
|
UTSW |
19 |
8,755,992 (GRCm39) |
unclassified |
probably benign |
|
|
R2870:Taf6l
|
UTSW |
19 |
8,755,992 (GRCm39) |
unclassified |
probably benign |
|
|
R3105:Taf6l
|
UTSW |
19 |
8,756,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4578:Taf6l
|
UTSW |
19 |
8,761,335 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4581:Taf6l
|
UTSW |
19 |
8,755,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4841:Taf6l
|
UTSW |
19 |
8,759,770 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4842:Taf6l
|
UTSW |
19 |
8,759,770 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5215:Taf6l
|
UTSW |
19 |
8,755,417 (GRCm39) |
intron |
probably benign |
|
|
R5571:Taf6l
|
UTSW |
19 |
8,761,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5687:Taf6l
|
UTSW |
19 |
8,750,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5799:Taf6l
|
UTSW |
19 |
8,759,995 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5814:Taf6l
|
UTSW |
19 |
8,752,210 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6008:Taf6l
|
UTSW |
19 |
8,755,530 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6091:Taf6l
|
UTSW |
19 |
8,755,920 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6228:Taf6l
|
UTSW |
19 |
8,756,030 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6569:Taf6l
|
UTSW |
19 |
8,750,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6768:Taf6l
|
UTSW |
19 |
8,751,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7586:Taf6l
|
UTSW |
19 |
8,761,210 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8282:Taf6l
|
UTSW |
19 |
8,750,714 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8959:Taf6l
|
UTSW |
19 |
8,750,690 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R8963:Taf6l
|
UTSW |
19 |
8,752,135 (GRCm39) |
missense |
probably benign |
|
|
R9225:Taf6l
|
UTSW |
19 |
8,751,688 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R9340:Taf6l
|
UTSW |
19 |
8,752,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9488:Taf6l
|
UTSW |
19 |
8,759,436 (GRCm39) |
missense |
probably benign |
0.44 |
|
Z1176:Taf6l
|
UTSW |
19 |
8,759,908 (GRCm39) |
missense |
probably null |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCGGCTCTTCTGGAAGAC -3'
(R):5'- CCGAAACAGGTTTTGGGTCTGG -3'
Sequencing Primer
(F):5'- GGCTCTTCTGGAAGACGTCTC -3'
(R):5'- AACAGGTTTTGGGTCTGGTCTCC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation