Incidental Mutation 'R5937:Taf5'
| ID |
462351 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf5
|
| Ensembl Gene |
ENSMUSG00000025049 |
| Gene Name |
TATA-box binding protein associated factor 5 |
| Synonyms |
6330528C20Rik |
| MMRRC Submission |
043242-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R5937 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
47056187-47071918 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 47070334 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 640
(S640L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026027
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026027]
[ENSMUST00000096014]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026027
AA Change: S640L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026027
Gene: ENSMUSG00000025049
AA Change: S640L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
29 |
92 |
N/A |
INTRINSIC |
|
LisH
|
93 |
125 |
6.52e-2 |
SMART |
|
low complexity region
|
132 |
150 |
N/A |
INTRINSIC |
|
Pfam:TFIID_NTD2
|
206 |
338 |
4.5e-55 |
PFAM |
|
low complexity region
|
389 |
417 |
N/A |
INTRINSIC |
|
WD40
|
460 |
499 |
8.36e-2 |
SMART |
|
WD40
|
533 |
572 |
1.82e-11 |
SMART |
|
WD40
|
575 |
614 |
1.19e-6 |
SMART |
|
WD40
|
617 |
656 |
9.08e-12 |
SMART |
|
WD40
|
659 |
698 |
1.4e-12 |
SMART |
|
WD40
|
701 |
740 |
2.57e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096014
|
| SMART Domains |
Protein: ENSMUSP00000093713
Gene: ENSMUSG00000071528
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_synth_reg
|
1 |
51 |
7.6e-33 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.5%
|
| 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 an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
T |
15: 60,791,495 (GRCm39) |
W314R |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,255,194 (GRCm39) |
V6143E |
probably damaging |
Het |
| Agap3 |
C |
T |
5: 24,682,815 (GRCm39) |
T261I |
probably damaging |
Het |
| Ano6 |
T |
C |
15: 95,811,838 (GRCm39) |
I241T |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,076,051 (GRCm39) |
T1328A |
probably benign |
Het |
| Capn10 |
C |
T |
1: 92,867,105 (GRCm39) |
R112W |
probably damaging |
Het |
| Car5a |
A |
T |
8: 122,666,560 (GRCm39) |
W46R |
probably damaging |
Het |
| Cntn6 |
C |
A |
6: 104,810,064 (GRCm39) |
T582K |
possibly damaging |
Het |
| Ctsh |
T |
C |
9: 89,943,509 (GRCm39) |
V60A |
probably benign |
Het |
| Ctsll3 |
A |
G |
13: 60,947,410 (GRCm39) |
F259L |
probably damaging |
Het |
| Dennd2b |
A |
T |
7: 109,156,478 (GRCm39) |
C91S |
possibly damaging |
Het |
| Fam228a |
T |
C |
12: 4,787,725 (GRCm39) |
E16G |
probably damaging |
Het |
| G3bp2 |
A |
G |
5: 92,203,256 (GRCm39) |
I388T |
probably damaging |
Het |
| Galnt5 |
A |
T |
2: 57,928,949 (GRCm39) |
K926N |
probably benign |
Het |
| Gm10097 |
G |
A |
10: 5,019,485 (GRCm39) |
|
probably benign |
Het |
| Gm9978 |
T |
A |
10: 78,322,675 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
A |
G |
11: 57,080,559 (GRCm39) |
T112A |
probably benign |
Het |
| Hnrnpk |
A |
C |
13: 58,543,016 (GRCm39) |
V134G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,224,808 (GRCm39) |
V220A |
probably benign |
Het |
| Lhx4 |
A |
G |
1: 155,586,023 (GRCm39) |
I96T |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,419,745 (GRCm39) |
T955A |
possibly damaging |
Het |
| Lrtm1 |
T |
C |
14: 28,743,787 (GRCm39) |
V85A |
possibly damaging |
Het |
| Man2a2 |
T |
C |
7: 80,013,251 (GRCm39) |
Y514C |
probably damaging |
Het |
| Npas1 |
T |
A |
7: 16,197,187 (GRCm39) |
D226V |
probably benign |
Het |
| Nrcam |
G |
A |
12: 44,619,074 (GRCm39) |
V858I |
probably benign |
Het |
| Or14c40 |
G |
T |
7: 86,313,684 (GRCm39) |
L271F |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,675 (GRCm39) |
S215T |
probably damaging |
Het |
| Pde6b |
G |
T |
5: 108,572,193 (GRCm39) |
A478S |
probably benign |
Het |
| Pex1 |
T |
A |
5: 3,674,487 (GRCm39) |
N789K |
possibly damaging |
Het |
| Plekha6 |
A |
G |
1: 133,187,839 (GRCm39) |
D120G |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,011,110 (GRCm39) |
T220A |
probably benign |
Het |
| Sdr39u1 |
A |
T |
14: 56,135,364 (GRCm39) |
I193K |
probably damaging |
Het |
| Sec61a2 |
C |
A |
2: 5,891,368 (GRCm39) |
M54I |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,574,987 (GRCm39) |
Y365C |
probably damaging |
Het |
| Sra1 |
C |
T |
18: 36,804,652 (GRCm39) |
|
probably null |
Het |
| Tas2r140 |
T |
A |
6: 133,032,236 (GRCm39) |
H174L |
probably benign |
Het |
| Tmem63a |
T |
A |
1: 180,788,716 (GRCm39) |
V351D |
probably damaging |
Het |
| Ttll7 |
C |
T |
3: 146,649,847 (GRCm39) |
Q626* |
probably null |
Het |
| Ubn2 |
T |
A |
6: 38,440,917 (GRCm39) |
V263E |
possibly damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,505,667 (GRCm39) |
W9* |
probably null |
Het |
| Xrcc3 |
C |
G |
12: 111,774,406 (GRCm39) |
C141S |
probably null |
Het |
| Zfp516 |
T |
A |
18: 82,974,958 (GRCm39) |
D385E |
probably damaging |
Het |
|
| Other mutations in Taf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Taf5
|
APN |
19 |
47,070,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01115:Taf5
|
APN |
19 |
47,063,521 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02168:Taf5
|
APN |
19 |
47,070,917 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02638:Taf5
|
APN |
19 |
47,056,649 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02689:Taf5
|
APN |
19 |
47,065,704 (GRCm39) |
splice site |
probably benign |
|
|
R0008:Taf5
|
UTSW |
19 |
47,064,301 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0008:Taf5
|
UTSW |
19 |
47,064,301 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0220:Taf5
|
UTSW |
19 |
47,068,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Taf5
|
UTSW |
19 |
47,063,293 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1518:Taf5
|
UTSW |
19 |
47,070,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2329:Taf5
|
UTSW |
19 |
47,063,563 (GRCm39) |
missense |
probably benign |
0.07 |
|
R3431:Taf5
|
UTSW |
19 |
47,064,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3432:Taf5
|
UTSW |
19 |
47,064,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3689:Taf5
|
UTSW |
19 |
47,067,224 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4411:Taf5
|
UTSW |
19 |
47,059,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4413:Taf5
|
UTSW |
19 |
47,059,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4676:Taf5
|
UTSW |
19 |
47,063,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5370:Taf5
|
UTSW |
19 |
47,064,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5875:Taf5
|
UTSW |
19 |
47,064,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5883:Taf5
|
UTSW |
19 |
47,056,228 (GRCm39) |
missense |
unknown |
|
|
R6835:Taf5
|
UTSW |
19 |
47,065,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7007:Taf5
|
UTSW |
19 |
47,059,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8198:Taf5
|
UTSW |
19 |
47,064,212 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9151:Taf5
|
UTSW |
19 |
47,063,370 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9500:Taf5
|
UTSW |
19 |
47,065,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Taf5
|
UTSW |
19 |
47,059,434 (GRCm39) |
missense |
probably damaging |
0.96 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTAGAGGAACCATTTGGAATTG -3'
(R):5'- CGAGCAAAGTAGGGTTAAATCTATCTG -3'
Sequencing Primer
(F):5'- GGAATTGATCTTCACCTGGAAATACC -3'
(R):5'- TGACATACCTTGTGCCCA -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation