Incidental Mutation 'R8535:Taf4b'
| ID |
659221 |
| 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 |
068504-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.439)
|
| Stock # |
R8535 (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 A
at 14955195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 583
(S583T)
|
| 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: S583T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: S583T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (34/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,229,328 (GRCm39) |
I362F |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,784,493 (GRCm39) |
S1154T |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,859,211 (GRCm39) |
S2434T |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,808,514 (GRCm39) |
S1372P |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,031,425 (GRCm39) |
Y1002H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,225,082 (GRCm39) |
S1163P |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,250,305 (GRCm39) |
S14T |
probably benign |
Het |
| Gcnt7 |
T |
C |
2: 172,296,466 (GRCm39) |
I119M |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,274 (GRCm39) |
L37F |
probably damaging |
Het |
| Gm10750 |
A |
G |
2: 148,857,888 (GRCm39) |
V121A |
unknown |
Het |
| Klhl25 |
G |
A |
7: 75,515,843 (GRCm39) |
V250I |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,730,812 (GRCm39) |
S200R |
possibly damaging |
Het |
| Map1b |
T |
A |
13: 99,571,662 (GRCm39) |
D353V |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,169,741 (GRCm39) |
R20Q |
probably damaging |
Het |
| Or4c127 |
G |
A |
2: 89,833,511 (GRCm39) |
V254M |
probably benign |
Het |
| Or6c200-ps1 |
T |
C |
10: 128,869,892 (GRCm39) |
Y273C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Pkn3 |
A |
T |
2: 29,969,936 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
T |
A |
12: 98,646,285 (GRCm39) |
T1058S |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,779,433 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
A |
2: 27,129,657 (GRCm39) |
I263F |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,804,634 (GRCm39) |
V546M |
probably benign |
Het |
| Sh3bp5 |
A |
G |
14: 31,139,375 (GRCm39) |
V66A |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,928,730 (GRCm39) |
D294G |
probably benign |
Het |
| Tbcb |
G |
A |
7: 29,926,421 (GRCm39) |
P132L |
probably benign |
Het |
| Tcirg1 |
A |
G |
19: 3,946,324 (GRCm39) |
I791T |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,220,985 (GRCm39) |
V320D |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 61,208,417 (GRCm39) |
E368G |
probably benign |
Het |
| Trdv2-1 |
T |
A |
14: 54,183,972 (GRCm39) |
I67N |
probably damaging |
Het |
| Unc13c |
G |
A |
9: 73,447,653 (GRCm39) |
T1849I |
probably benign |
Het |
| Vav2 |
G |
A |
2: 27,161,841 (GRCm39) |
T655I |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,565,612 (GRCm39) |
Y517H |
possibly damaging |
Het |
| Wdr27 |
G |
A |
17: 15,123,799 (GRCm39) |
T558I |
possibly damaging |
Het |
| Yeats2 |
C |
T |
16: 19,977,926 (GRCm39) |
R137W |
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 |
|
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 |
|
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'- CATAGTTCTGGGCAGCTTAAGAC -3'
(R):5'- AGCATGTACAATTTGTGTCTGC -3'
Sequencing Primer
(F):5'- TTGGGAAGAGGTATTCTACT -3'
(R):5'- AGGTTATGAACTGCCACGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation