Incidental Mutation 'R6372:Taf4b'
| ID |
513607 |
| 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 |
044522-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R6372 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 14937790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 258
(V258G)
|
| 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: V258G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: V258G
| 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 |
0.8042 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (59/61) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
A |
10: 87,066,088 (GRCm39) |
H136Q |
possibly damaging |
Het |
| Aim2 |
T |
A |
1: 173,282,802 (GRCm39) |
|
probably null |
Het |
| Atp13a3 |
T |
C |
16: 30,162,273 (GRCm39) |
H696R |
probably damaging |
Het |
| Atrnl1 |
T |
C |
19: 57,638,764 (GRCm39) |
S301P |
probably benign |
Het |
| Atxn1 |
T |
A |
13: 45,710,932 (GRCm39) |
I667F |
probably damaging |
Het |
| Cacnb4 |
T |
A |
2: 52,324,679 (GRCm39) |
Y415F |
probably benign |
Het |
| Ccdc183 |
T |
C |
2: 25,506,176 (GRCm39) |
D140G |
probably benign |
Het |
| Clec2g |
A |
C |
6: 128,925,726 (GRCm39) |
H45P |
probably benign |
Het |
| Col5a3 |
A |
G |
9: 20,696,882 (GRCm39) |
V917A |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,204 (GRCm39) |
Y63C |
probably damaging |
Het |
| Dnajc28 |
T |
C |
16: 91,414,176 (GRCm39) |
I23V |
probably benign |
Het |
| Elovl6 |
T |
C |
3: 129,426,751 (GRCm39) |
F139S |
probably damaging |
Het |
| Fcgbp |
A |
G |
7: 27,806,433 (GRCm39) |
T2134A |
probably damaging |
Het |
| Fcrl5 |
C |
T |
3: 87,351,501 (GRCm39) |
Q250* |
probably null |
Het |
| Gimap1 |
T |
A |
6: 48,720,290 (GRCm39) |
*301K |
probably null |
Het |
| Gm17472 |
T |
C |
6: 42,957,823 (GRCm39) |
S31P |
possibly damaging |
Het |
| Gm2381 |
G |
A |
7: 42,470,010 (GRCm39) |
A38V |
probably benign |
Het |
| Gnl1 |
T |
C |
17: 36,293,427 (GRCm39) |
F204S |
probably damaging |
Het |
| Helz2 |
C |
T |
2: 180,875,260 (GRCm39) |
E1745K |
probably damaging |
Het |
| Hk1 |
T |
C |
10: 62,127,757 (GRCm39) |
H370R |
probably benign |
Het |
| Ighv7-2 |
G |
A |
12: 113,876,075 (GRCm39) |
T10I |
probably benign |
Het |
| Itga9 |
A |
G |
9: 118,726,389 (GRCm39) |
K448E |
probably damaging |
Het |
| Lama4 |
C |
A |
10: 38,943,948 (GRCm39) |
N750K |
probably benign |
Het |
| Megf11 |
T |
C |
9: 64,613,907 (GRCm39) |
Y1077H |
probably damaging |
Het |
| Mrpl45 |
T |
C |
11: 97,212,388 (GRCm39) |
|
probably benign |
Het |
| Nbeal2 |
T |
C |
9: 110,457,812 (GRCm39) |
D2185G |
possibly damaging |
Het |
| Ncoa3 |
C |
T |
2: 165,901,267 (GRCm39) |
S953F |
possibly damaging |
Het |
| Nlrc5 |
T |
C |
8: 95,206,378 (GRCm39) |
L743P |
probably damaging |
Het |
| Nol4 |
A |
G |
18: 23,171,613 (GRCm39) |
|
probably null |
Het |
| Nol9 |
T |
C |
4: 152,130,452 (GRCm39) |
S329P |
probably damaging |
Het |
| Ntrk1 |
T |
C |
3: 87,693,355 (GRCm39) |
D259G |
probably benign |
Het |
| Or2y11 |
A |
G |
11: 49,442,757 (GRCm39) |
Y61C |
probably damaging |
Het |
| Or4k40 |
T |
A |
2: 111,251,147 (GRCm39) |
I50F |
probably benign |
Het |
| Or5al5 |
T |
C |
2: 85,961,198 (GRCm39) |
T270A |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8h8 |
T |
A |
2: 86,753,499 (GRCm39) |
I126F |
probably damaging |
Het |
| Pbx4 |
C |
A |
8: 70,324,694 (GRCm39) |
A365E |
possibly damaging |
Het |
| Pcdhb19 |
T |
A |
18: 37,630,419 (GRCm39) |
N71K |
probably benign |
Het |
| Pde2a |
G |
A |
7: 101,130,599 (GRCm39) |
A80T |
probably benign |
Het |
| Psmb5 |
C |
A |
14: 54,854,130 (GRCm39) |
R116L |
probably damaging |
Het |
| Recql |
A |
G |
6: 142,322,566 (GRCm39) |
V112A |
probably damaging |
Het |
| Rhbdl3 |
C |
A |
11: 80,221,482 (GRCm39) |
L207I |
probably damaging |
Het |
| Rtkn |
A |
G |
6: 83,128,882 (GRCm39) |
D459G |
possibly damaging |
Het |
| Rubcnl |
C |
A |
14: 75,285,009 (GRCm39) |
S509R |
probably damaging |
Het |
| Slc26a8 |
T |
C |
17: 28,863,777 (GRCm39) |
T661A |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,449,475 (GRCm39) |
D2472V |
probably damaging |
Het |
| Tbc1d19 |
T |
G |
5: 54,014,252 (GRCm39) |
S293R |
possibly damaging |
Het |
| Tecpr1 |
C |
T |
5: 144,153,776 (GRCm39) |
R159Q |
probably damaging |
Het |
| Tlr3 |
A |
G |
8: 45,850,048 (GRCm39) |
S874P |
probably damaging |
Het |
| Tnk2 |
T |
A |
16: 32,498,603 (GRCm39) |
W639R |
probably damaging |
Het |
| Tpmt |
C |
T |
13: 47,189,370 (GRCm39) |
|
probably null |
Het |
| Trappc9 |
T |
A |
15: 72,461,923 (GRCm39) |
D935V |
possibly damaging |
Het |
| Trav13d-4 |
T |
C |
14: 53,995,118 (GRCm39) |
V4A |
probably damaging |
Het |
| Ubn1 |
C |
T |
16: 4,899,502 (GRCm39) |
T1082I |
possibly damaging |
Het |
| Usf2 |
G |
A |
7: 30,654,738 (GRCm39) |
Q35* |
probably null |
Het |
| Vmn1r57 |
T |
C |
7: 5,223,826 (GRCm39) |
M117T |
possibly damaging |
Het |
| Vmn2r65 |
G |
T |
7: 84,589,861 (GRCm39) |
A685E |
probably damaging |
Het |
| Vxn |
G |
A |
1: 9,683,546 (GRCm39) |
E45K |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,892,551 (GRCm39) |
E166G |
probably damaging |
Het |
| Zfp808 |
T |
C |
13: 62,320,291 (GRCm39) |
S507P |
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 |
|
R1609:Taf4b
|
UTSW |
18 |
14,968,938 (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 |
|
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'- CCTCAAATGACGCACGTCTC -3'
(R):5'- TGTTGGTCTGAGATAAACAGGTC -3'
Sequencing Primer
(F):5'- TGACGCACGTCTCAAAGCTG -3'
(R):5'- TGGTCTGAGATAAACAGGTCATAAAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation