Incidental Mutation 'R5480:Taf5l'
| ID |
434269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf5l
|
| Ensembl Gene |
ENSMUSG00000038697 |
| Gene Name |
TATA-box binding protein associated factor 5 like |
| Synonyms |
1110005N04Rik |
| MMRRC Submission |
043041-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R5480 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
124723057-124748136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 124736559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 4
(V4E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093039]
[ENSMUST00000127664]
[ENSMUST00000165628]
[ENSMUST00000212010]
|
| AlphaFold |
Q91WQ5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093039
AA Change: V4E
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000090726
Gene: ENSMUSG00000038697
AA Change: V4E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIID_NTD2
|
61 |
195 |
8.4e-35 |
PFAM |
|
WD40
|
257 |
296 |
6.66e-1 |
SMART |
|
WD40
|
331 |
370 |
3.19e-7 |
SMART |
|
WD40
|
373 |
412 |
5.95e-7 |
SMART |
|
WD40
|
415 |
454 |
2.2e-10 |
SMART |
|
WD40
|
457 |
496 |
1.2e-11 |
SMART |
|
WD40
|
499 |
538 |
5.3e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127664
|
| SMART Domains |
Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glycos_transf_2
|
104 |
287 |
7.4e-31 |
PFAM |
|
Pfam:Glyco_transf_7C
|
261 |
331 |
4.9e-8 |
PFAM |
|
RICIN
|
406 |
531 |
9.28e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165628
AA Change: V4E
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000128710
Gene: ENSMUSG00000038697
AA Change: V4E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TFIID_90kDa
|
55 |
196 |
1.2e-43 |
PFAM |
|
WD40
|
257 |
296 |
6.66e-1 |
SMART |
|
WD40
|
331 |
370 |
3.19e-7 |
SMART |
|
WD40
|
373 |
412 |
5.95e-7 |
SMART |
|
WD40
|
415 |
454 |
2.2e-10 |
SMART |
|
WD40
|
457 |
496 |
1.2e-11 |
SMART |
|
WD40
|
499 |
538 |
5.3e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211825
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000212010
AA Change: V4E
PolyPhen 2
Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213055
|
| Meta Mutation Damage Score |
0.1724 |
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.2%
- 20x: 90.7%
|
| Validation Efficiency |
97% (56/58) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the WD-repeat TAF5 family of proteins. This gene encodes a protein that is a component of the PCAF histone acetylase complex. 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. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors to facilitate complex assembly and transcription initiation. The encoded protein is structurally similar to one of the histone-like TAFs, TAF5. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh7 |
A |
G |
17: 57,306,131 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,482,979 (GRCm39) |
L343S |
probably damaging |
Het |
| Btbd10 |
T |
A |
7: 112,915,914 (GRCm39) |
R392W |
probably damaging |
Het |
| Camkv |
A |
G |
9: 107,824,074 (GRCm39) |
D216G |
probably damaging |
Het |
| Col22a1 |
T |
C |
15: 71,836,460 (GRCm39) |
D525G |
probably damaging |
Het |
| Dqx1 |
A |
T |
6: 83,041,784 (GRCm39) |
D542V |
probably damaging |
Het |
| Epha8 |
T |
C |
4: 136,662,441 (GRCm39) |
T539A |
probably benign |
Het |
| Faap100 |
T |
C |
11: 120,267,939 (GRCm39) |
E278G |
probably damaging |
Het |
| Fat2 |
A |
G |
11: 55,200,912 (GRCm39) |
S721P |
probably damaging |
Het |
| Fcgbpl1 |
T |
A |
7: 27,857,424 (GRCm39) |
C2257* |
probably null |
Het |
| Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
| Gfy |
C |
A |
7: 44,826,657 (GRCm39) |
V394F |
probably benign |
Het |
| Gipr |
A |
G |
7: 18,894,579 (GRCm39) |
L241P |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,552,100 (GRCm39) |
S445P |
probably damaging |
Het |
| Ift140 |
G |
T |
17: 25,239,550 (GRCm39) |
W69L |
probably damaging |
Het |
| Kat6a |
T |
A |
8: 23,428,323 (GRCm39) |
M1226K |
possibly damaging |
Het |
| Klk12 |
T |
G |
7: 43,420,482 (GRCm39) |
H140Q |
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,130,330 (GRCm39) |
F196L |
probably benign |
Het |
| Mblac2 |
T |
A |
13: 81,898,395 (GRCm39) |
V257E |
possibly damaging |
Het |
| Pcdha11 |
A |
G |
18: 37,138,935 (GRCm39) |
E188G |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,027,724 (GRCm39) |
N250S |
possibly damaging |
Het |
| Phkb |
A |
G |
8: 86,648,811 (GRCm39) |
D209G |
probably damaging |
Het |
| Pigs |
T |
G |
11: 78,219,901 (GRCm39) |
I92S |
possibly damaging |
Het |
| Pigz |
G |
T |
16: 31,763,439 (GRCm39) |
G166C |
probably damaging |
Het |
| Pkd1l2 |
C |
A |
8: 117,757,388 (GRCm39) |
R1550L |
probably damaging |
Het |
| Pkd2l1 |
A |
G |
19: 44,180,595 (GRCm39) |
V40A |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,301,616 (GRCm39) |
M1470K |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,833,652 (GRCm39) |
|
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,098,311 (GRCm39) |
T1272A |
possibly damaging |
Het |
| Rfwd3 |
A |
T |
8: 112,000,464 (GRCm39) |
D720E |
probably damaging |
Het |
| Rgs12 |
C |
G |
5: 35,123,455 (GRCm39) |
Q413E |
probably benign |
Het |
| Rhobtb1 |
T |
A |
10: 69,106,563 (GRCm39) |
V376D |
possibly damaging |
Het |
| Rrp8 |
C |
T |
7: 105,383,336 (GRCm39) |
S310N |
probably damaging |
Het |
| S100a3 |
C |
T |
3: 90,509,591 (GRCm39) |
L79F |
probably damaging |
Het |
| Setbp1 |
C |
A |
18: 78,901,278 (GRCm39) |
M796I |
probably damaging |
Het |
| Sipa1 |
A |
G |
19: 5,709,658 (GRCm39) |
L254P |
possibly damaging |
Het |
| Slc4a7 |
C |
G |
14: 14,782,138 (GRCm38) |
H964Q |
probably damaging |
Het |
| Strc |
G |
T |
2: 121,195,300 (GRCm39) |
P1661Q |
probably benign |
Het |
| Tbc1d15 |
T |
C |
10: 115,069,123 (GRCm39) |
E82G |
probably damaging |
Het |
| Thada |
A |
G |
17: 84,739,682 (GRCm39) |
S858P |
probably benign |
Het |
| Ticrr |
T |
C |
7: 79,310,557 (GRCm39) |
V157A |
probably damaging |
Het |
| Trim21 |
T |
C |
7: 102,208,463 (GRCm39) |
T419A |
probably benign |
Het |
| Vmn2r60 |
G |
T |
7: 41,785,154 (GRCm39) |
W122L |
probably damaging |
Het |
| Vwa3b |
C |
A |
1: 37,139,787 (GRCm39) |
Y369* |
probably null |
Het |
| Ythdf3 |
T |
C |
3: 16,237,664 (GRCm39) |
S2P |
possibly damaging |
Het |
|
| Other mutations in Taf5l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02850:Taf5l
|
APN |
8 |
124,730,197 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03371:Taf5l
|
APN |
8 |
124,724,725 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
Invalid
|
UTSW |
8 |
124,729,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0017:Taf5l
|
UTSW |
8 |
124,730,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1708:Taf5l
|
UTSW |
8 |
124,736,509 (GRCm39) |
nonsense |
probably null |
|
|
R1813:Taf5l
|
UTSW |
8 |
124,730,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Taf5l
|
UTSW |
8 |
124,724,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:Taf5l
|
UTSW |
8 |
124,730,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4570:Taf5l
|
UTSW |
8 |
124,724,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Taf5l
|
UTSW |
8 |
124,724,844 (GRCm39) |
missense |
probably benign |
|
|
R5294:Taf5l
|
UTSW |
8 |
124,734,957 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5335:Taf5l
|
UTSW |
8 |
124,730,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5905:Taf5l
|
UTSW |
8 |
124,729,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6028:Taf5l
|
UTSW |
8 |
124,729,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7105:Taf5l
|
UTSW |
8 |
124,729,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Taf5l
|
UTSW |
8 |
124,730,251 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8337:Taf5l
|
UTSW |
8 |
124,724,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8881:Taf5l
|
UTSW |
8 |
124,730,101 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R9128:Taf5l
|
UTSW |
8 |
124,730,014 (GRCm39) |
missense |
probably benign |
|
|
R9600:Taf5l
|
UTSW |
8 |
124,730,173 (GRCm39) |
missense |
|
|
|
X0024:Taf5l
|
UTSW |
8 |
124,724,760 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1088:Taf5l
|
UTSW |
8 |
124,724,077 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Taf5l
|
UTSW |
8 |
124,724,101 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1177:Taf5l
|
UTSW |
8 |
124,729,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGCTCACTGAAGCTTGGTAG -3'
(R):5'- CAAAGAAGCTGGCTCCATGG -3'
Sequencing Primer
(F):5'- GGTAGCCTACCCTTTGCTGAGAAC -3'
(R):5'- CTCCATGGCCTTTGGAAAAGTAG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation