Incidental Mutation 'R0385:Taf4b'
| ID |
65502 |
| 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 |
038591-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R0385 (G1)
|
| Quality Score |
140 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14916817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 56
(S56P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169862]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169862
AA Change: S56P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: S56P
| 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: 99.2%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,122,574 (GRCm39) |
N331S |
probably benign |
Het |
| Adk |
A |
G |
14: 21,368,142 (GRCm39) |
N189S |
probably benign |
Het |
| Apc |
T |
A |
18: 34,448,997 (GRCm39) |
N1930K |
probably damaging |
Het |
| Arhgap28 |
T |
C |
17: 68,171,601 (GRCm39) |
D391G |
probably damaging |
Het |
| Atn1 |
G |
T |
6: 124,720,334 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,987,216 (GRCm39) |
E471G |
probably damaging |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Cap2 |
T |
C |
13: 46,714,023 (GRCm39) |
L34P |
probably damaging |
Het |
| Cdc42ep2 |
T |
A |
19: 5,968,553 (GRCm39) |
M51L |
probably benign |
Het |
| Cntn5 |
C |
T |
9: 9,972,875 (GRCm39) |
A254T |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,670,433 (GRCm39) |
L1044H |
probably damaging |
Het |
| Dkk3 |
A |
C |
7: 111,757,430 (GRCm39) |
M58R |
probably damaging |
Het |
| Dpy19l3 |
G |
A |
7: 35,452,130 (GRCm39) |
R5W |
probably damaging |
Het |
| Dsg1c |
C |
T |
18: 20,416,711 (GRCm39) |
P871S |
probably damaging |
Het |
| Dusp1 |
A |
T |
17: 26,726,670 (GRCm39) |
S131T |
probably benign |
Het |
| Enpp2 |
C |
T |
15: 54,745,555 (GRCm39) |
G314R |
probably damaging |
Het |
| Entr1 |
T |
C |
2: 26,277,671 (GRCm39) |
E41G |
possibly damaging |
Het |
| Fam222b |
C |
A |
11: 78,045,756 (GRCm39) |
P439Q |
probably benign |
Het |
| Fastkd2 |
A |
T |
1: 63,776,970 (GRCm39) |
I369F |
probably benign |
Het |
| Fdps |
G |
A |
3: 89,002,201 (GRCm39) |
S205F |
probably damaging |
Het |
| Fmo1 |
A |
T |
1: 162,663,773 (GRCm39) |
V252E |
possibly damaging |
Het |
| Frmd5 |
A |
G |
2: 121,386,055 (GRCm39) |
Y230H |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,461,171 (GRCm39) |
V88I |
probably benign |
Het |
| Gnptab |
T |
C |
10: 88,272,387 (GRCm39) |
I1009T |
probably damaging |
Het |
| Idh2 |
C |
T |
7: 79,748,005 (GRCm39) |
A232T |
probably damaging |
Het |
| Klhdc7a |
A |
T |
4: 139,694,016 (GRCm39) |
D310E |
probably benign |
Het |
| Klk4 |
T |
C |
7: 43,533,432 (GRCm39) |
M97T |
probably benign |
Het |
| Krt82 |
C |
T |
15: 101,454,028 (GRCm39) |
V227M |
probably damaging |
Het |
| Lpp |
T |
C |
16: 24,580,587 (GRCm39) |
V226A |
probably damaging |
Het |
| Mbd1 |
AGCTGACTCGGTAC |
A |
18: 74,406,312 (GRCm39) |
|
probably null |
Het |
| Mcm10 |
T |
C |
2: 5,008,965 (GRCm39) |
K335E |
possibly damaging |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,218,313 (GRCm39) |
S2120F |
possibly damaging |
Het |
| Myb |
T |
C |
10: 21,030,611 (GRCm39) |
D62G |
possibly damaging |
Het |
| Nasp |
A |
T |
4: 116,467,892 (GRCm39) |
N364K |
probably benign |
Het |
| Npsr1 |
A |
G |
9: 24,224,573 (GRCm39) |
N317D |
probably damaging |
Het |
| Nup210 |
A |
G |
6: 91,005,777 (GRCm39) |
V619A |
possibly damaging |
Het |
| Oser1 |
C |
T |
2: 163,253,316 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
T |
C |
18: 37,442,268 (GRCm39) |
F526S |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,055,967 (GRCm39) |
N444S |
probably damaging |
Het |
| Pnpla5 |
G |
T |
15: 84,004,920 (GRCm39) |
L144M |
probably damaging |
Het |
| Pou2f2 |
G |
A |
7: 24,815,501 (GRCm39) |
Q89* |
probably null |
Het |
| Ptprb |
A |
G |
10: 116,186,083 (GRCm39) |
I1713V |
probably benign |
Het |
| Ptprd |
A |
G |
4: 76,046,902 (GRCm39) |
Y442H |
probably damaging |
Het |
| Rad21 |
A |
T |
15: 51,837,259 (GRCm39) |
I152N |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,723,823 (GRCm39) |
S1568P |
probably damaging |
Het |
| Rhag |
T |
A |
17: 41,145,618 (GRCm39) |
V357E |
probably damaging |
Het |
| Rnf121 |
A |
T |
7: 101,678,324 (GRCm39) |
D174E |
possibly damaging |
Het |
| Sf3b4 |
T |
C |
3: 96,080,298 (GRCm39) |
Y16H |
probably damaging |
Het |
| Slc1a3 |
C |
T |
15: 8,668,619 (GRCm39) |
V449I |
probably damaging |
Het |
| Slc20a2 |
A |
G |
8: 23,058,409 (GRCm39) |
I648M |
probably benign |
Het |
| Slc25a25 |
T |
A |
2: 32,307,834 (GRCm39) |
I254F |
probably damaging |
Het |
| Slit3 |
A |
G |
11: 35,591,109 (GRCm39) |
H1307R |
probably damaging |
Het |
| Sorl1 |
C |
A |
9: 41,943,205 (GRCm39) |
M890I |
probably damaging |
Het |
| Supt16 |
A |
C |
14: 52,414,175 (GRCm39) |
M468R |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,375,443 (GRCm39) |
|
probably null |
Het |
| Tmco3 |
T |
G |
8: 13,346,027 (GRCm39) |
C288W |
probably damaging |
Het |
| Tpcn2 |
A |
G |
7: 144,830,911 (GRCm39) |
Y145H |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,712,061 (GRCm39) |
|
probably benign |
Het |
| Usb1 |
G |
T |
8: 96,071,946 (GRCm39) |
W215C |
probably damaging |
Het |
| Usp2 |
C |
G |
9: 44,004,047 (GRCm39) |
T305R |
probably damaging |
Het |
| Vmn1r13 |
G |
A |
6: 57,187,690 (GRCm39) |
S283N |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,256,381 (GRCm39) |
K467E |
possibly damaging |
Het |
| Wnk2 |
G |
T |
13: 49,221,604 (GRCm39) |
S1121Y |
probably damaging |
Het |
| Zbed6 |
A |
T |
1: 133,584,522 (GRCm39) |
D938E |
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 |
|
|
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 |
|
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'- TGAATTTCTGGCGCGGAAGCTC -3'
(R):5'- GAAGCTGCAAATTAGCCGGTAGTTG -3'
Sequencing Primer
(F):5'- AACTGAAGTGACGCCCTG -3'
(R):5'- CAAATTAGCCGGTAGTTGGATTG -3'
|
| Posted On |
2013-08-08 |
Incidental Mutation