Incidental Mutation 'R1609:Taf4b'
| ID |
176698 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf4b
|
| Ensembl Gene |
ENSMUSG00000054321 |
| Gene Name |
TATA-box binding protein associated factor 4b |
| Synonyms |
4932409F03Rik, TAFII105, Taf2c2, 2610524B04Rik, 105kDa |
| MMRRC Submission |
039646-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R1609 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14968938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 692
(K692E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169862]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169862
AA Change: K692E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: K692E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
23 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
196 |
N/A |
INTRINSIC |
|
Pfam:TAFH
|
257 |
348 |
5.3e-39 |
PFAM |
|
low complexity region
|
359 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
422 |
N/A |
INTRINSIC |
|
Pfam:TAF4
|
610 |
852 |
4e-72 |
PFAM |
|
| Meta Mutation Damage Score |
0.4035 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.1%
|
| Validation Efficiency |
96% (49/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TATA binding protein (TBP) and TBP-associated factors (TAFs) participate in the formation of the TFIID protein complex, which is involved in initiation of transcription of genes by RNA polymerase II. This gene encodes a cell type-specific TAF that may be responsible for mediating transcription by a subset of activators in B cells. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
PHENOTYPE: Homozygotes for a targeted null mutation are infertile due to a granulosa cell defect preventing normal follicle formation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot2 |
C |
T |
12: 84,039,630 (GRCm39) |
R380C |
possibly damaging |
Het |
| Allc |
A |
T |
12: 28,603,993 (GRCm39) |
D363E |
probably damaging |
Het |
| Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
| App |
C |
A |
16: 84,876,837 (GRCm39) |
V185L |
probably damaging |
Het |
| Atp5if1 |
T |
C |
4: 132,258,078 (GRCm39) |
D47G |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Cbr4 |
T |
A |
8: 61,956,192 (GRCm39) |
Y220N |
probably damaging |
Het |
| Ccdc6 |
C |
A |
10: 70,002,877 (GRCm39) |
Q203K |
probably damaging |
Het |
| Cntnap2 |
T |
C |
6: 45,992,264 (GRCm39) |
V397A |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,316,547 (GRCm39) |
I1613T |
possibly damaging |
Het |
| Dnah14 |
T |
C |
1: 181,577,742 (GRCm39) |
S3020P |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,392,126 (GRCm39) |
L3829P |
probably damaging |
Het |
| Fbxw25 |
C |
T |
9: 109,492,578 (GRCm39) |
C53Y |
probably benign |
Het |
| Fndc1 |
G |
T |
17: 7,991,598 (GRCm39) |
H699Q |
unknown |
Het |
| Gnaq |
G |
A |
19: 16,360,618 (GRCm39) |
V314M |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,788,104 (GRCm39) |
T582A |
possibly damaging |
Het |
| Mapk1 |
T |
C |
16: 16,856,170 (GRCm39) |
|
probably benign |
Het |
| Med1 |
T |
A |
11: 98,051,996 (GRCm39) |
H456L |
possibly damaging |
Het |
| Myo6 |
G |
A |
9: 80,195,499 (GRCm39) |
|
probably null |
Het |
| Nipbl |
A |
G |
15: 8,396,148 (GRCm39) |
Y142H |
probably damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,688 (GRCm39) |
F27L |
probably benign |
Het |
| Or8k24 |
A |
G |
2: 86,215,838 (GRCm39) |
I308T |
probably benign |
Het |
| Or8k33 |
A |
C |
2: 86,383,949 (GRCm39) |
V173G |
probably damaging |
Het |
| Pgbd5 |
T |
C |
8: 125,160,750 (GRCm39) |
D39G |
probably benign |
Het |
| Pnisr |
G |
T |
4: 21,871,440 (GRCm39) |
G387* |
probably null |
Het |
| Pnpla6 |
T |
C |
8: 3,567,135 (GRCm39) |
L61P |
probably damaging |
Het |
| Prkra |
A |
T |
2: 76,463,936 (GRCm39) |
I242N |
probably benign |
Het |
| Rp1 |
A |
G |
1: 4,419,424 (GRCm39) |
S563P |
probably damaging |
Het |
| Rtp3 |
A |
G |
9: 110,815,085 (GRCm39) |
|
probably benign |
Het |
| Sema3d |
A |
G |
5: 12,591,023 (GRCm39) |
T301A |
probably damaging |
Het |
| Setmar |
A |
G |
6: 108,053,076 (GRCm39) |
D190G |
probably benign |
Het |
| Sf3b2 |
A |
G |
19: 5,345,061 (GRCm39) |
|
probably benign |
Het |
| Tktl2 |
A |
G |
8: 66,965,504 (GRCm39) |
E354G |
probably benign |
Het |
| Tspan4 |
A |
G |
7: 141,071,557 (GRCm39) |
T135A |
probably damaging |
Het |
| Vmn1r22 |
G |
T |
6: 57,877,733 (GRCm39) |
Y81* |
probably null |
Het |
| Vmn2r31 |
T |
C |
7: 7,387,888 (GRCm39) |
E561G |
probably damaging |
Het |
| Xrn1 |
A |
T |
9: 95,856,946 (GRCm39) |
K389N |
probably benign |
Het |
| Zfp277 |
A |
T |
12: 40,378,719 (GRCm39) |
N379K |
probably damaging |
Het |
|
| Other mutations in Taf4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01658:Taf4b
|
APN |
18 |
14,977,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01755:Taf4b
|
APN |
18 |
15,031,043 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL01755:Taf4b
|
APN |
18 |
15,031,042 (GRCm39) |
missense |
probably benign |
|
|
IGL02049:Taf4b
|
APN |
18 |
14,963,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02650:Taf4b
|
APN |
18 |
14,975,040 (GRCm39) |
nonsense |
probably null |
|
|
IGL03078:Taf4b
|
APN |
18 |
14,946,611 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL03169:Taf4b
|
APN |
18 |
14,954,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03261:Taf4b
|
APN |
18 |
14,954,585 (GRCm39) |
missense |
probably benign |
|
|
adirondack
|
UTSW |
18 |
14,937,635 (GRCm39) |
missense |
probably null |
0.16 |
|
R0266:Taf4b
|
UTSW |
18 |
14,946,134 (GRCm39) |
splice site |
probably benign |
|
|
R0385:Taf4b
|
UTSW |
18 |
14,916,817 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1015:Taf4b
|
UTSW |
18 |
14,946,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1054:Taf4b
|
UTSW |
18 |
14,954,530 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1416:Taf4b
|
UTSW |
18 |
14,954,484 (GRCm39) |
splice site |
probably benign |
|
|
R1435:Taf4b
|
UTSW |
18 |
14,940,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1611:Taf4b
|
UTSW |
18 |
14,977,526 (GRCm39) |
missense |
probably null |
1.00 |
|
R1906:Taf4b
|
UTSW |
18 |
14,955,159 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2038:Taf4b
|
UTSW |
18 |
14,940,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2890:Taf4b
|
UTSW |
18 |
14,937,849 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4527:Taf4b
|
UTSW |
18 |
14,954,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4559:Taf4b
|
UTSW |
18 |
14,946,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Taf4b
|
UTSW |
18 |
14,937,577 (GRCm39) |
missense |
probably benign |
0.30 |
|
R4857:Taf4b
|
UTSW |
18 |
14,937,635 (GRCm39) |
missense |
probably null |
0.16 |
|
R4946:Taf4b
|
UTSW |
18 |
14,946,599 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4984:Taf4b
|
UTSW |
18 |
14,968,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4994:Taf4b
|
UTSW |
18 |
15,031,100 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5010:Taf4b
|
UTSW |
18 |
14,955,229 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5155:Taf4b
|
UTSW |
18 |
14,963,152 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5874:Taf4b
|
UTSW |
18 |
14,937,611 (GRCm39) |
missense |
probably benign |
|
|
R6079:Taf4b
|
UTSW |
18 |
14,955,255 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6303:Taf4b
|
UTSW |
18 |
14,940,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6304:Taf4b
|
UTSW |
18 |
14,940,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6372:Taf4b
|
UTSW |
18 |
14,937,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Taf4b
|
UTSW |
18 |
14,946,404 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7538:Taf4b
|
UTSW |
18 |
14,946,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7790:Taf4b
|
UTSW |
18 |
14,946,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8021:Taf4b
|
UTSW |
18 |
14,937,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8072:Taf4b
|
UTSW |
18 |
14,954,585 (GRCm39) |
missense |
probably benign |
|
|
R8075:Taf4b
|
UTSW |
18 |
14,916,749 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8145:Taf4b
|
UTSW |
18 |
14,963,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Taf4b
|
UTSW |
18 |
15,031,106 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8320:Taf4b
|
UTSW |
18 |
14,916,749 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8509:Taf4b
|
UTSW |
18 |
15,031,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8535:Taf4b
|
UTSW |
18 |
14,955,195 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8772:Taf4b
|
UTSW |
18 |
14,968,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Taf4b
|
UTSW |
18 |
14,946,485 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8874:Taf4b
|
UTSW |
18 |
14,963,127 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9155:Taf4b
|
UTSW |
18 |
14,946,296 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9254:Taf4b
|
UTSW |
18 |
14,946,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9338:Taf4b
|
UTSW |
18 |
14,954,555 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9379:Taf4b
|
UTSW |
18 |
14,946,431 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9630:Taf4b
|
UTSW |
18 |
14,930,077 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9686:Taf4b
|
UTSW |
18 |
14,932,215 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9801:Taf4b
|
UTSW |
18 |
14,932,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGGAACTGAATACCTGCTGTGC -3'
(R):5'- CAGTAATGCCTGACACCAGGGTC -3'
Sequencing Primer
(F):5'- TGAATACCTGCTGTGCTAATTATTTC -3'
(R):5'- GCAAGACAGGTGCATATTCC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation