Incidental Mutation 'R9686:Taf4b'
| ID |
728880 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.439)
|
| Stock # |
R9686 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 14932215 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 189
(T189N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169862]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169862
AA Change: T189N
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: T189N
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 |
|---|
| Abcc3 |
A |
G |
11: 94,247,867 (GRCm39) |
F1209L |
probably benign |
Het |
| Adamts19 |
A |
G |
18: 58,971,093 (GRCm39) |
T226A |
probably benign |
Het |
| Akap13 |
A |
G |
7: 75,236,084 (GRCm39) |
T220A |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,740,550 (GRCm39) |
E1778V |
unknown |
Het |
| Aspn |
T |
C |
13: 49,710,829 (GRCm39) |
I158T |
probably damaging |
Het |
| Btbd1 |
A |
G |
7: 81,455,598 (GRCm39) |
C258R |
probably damaging |
Het |
| Btla |
A |
G |
16: 45,070,872 (GRCm39) |
N278S |
probably damaging |
Het |
| Cap2 |
A |
G |
13: 46,678,926 (GRCm39) |
E12G |
probably damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,467,919 (GRCm39) |
Y88C |
probably damaging |
Het |
| Ceacam3 |
C |
T |
7: 16,892,123 (GRCm39) |
L289F |
|
Het |
| Cenpj |
G |
A |
14: 56,790,048 (GRCm39) |
A667V |
probably benign |
Het |
| Clu |
G |
T |
14: 66,212,454 (GRCm39) |
G136C |
probably damaging |
Het |
| Col4a4 |
A |
T |
1: 82,474,962 (GRCm39) |
F626I |
unknown |
Het |
| Csf2ra |
A |
G |
19: 61,213,629 (GRCm39) |
F360S |
probably damaging |
Het |
| Cyp27b1 |
T |
A |
10: 126,886,185 (GRCm39) |
S289T |
probably benign |
Het |
| Dnah17 |
G |
T |
11: 117,979,048 (GRCm39) |
H1781Q |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Fap |
T |
C |
2: 62,403,857 (GRCm39) |
K6R |
possibly damaging |
Het |
| Fcer1a |
A |
G |
1: 173,052,980 (GRCm39) |
V72A |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,456,434 (GRCm39) |
S2211P |
possibly damaging |
Het |
| Gm20939 |
A |
T |
17: 95,184,888 (GRCm39) |
H512L |
probably damaging |
Het |
| Gng12 |
T |
C |
6: 66,994,529 (GRCm39) |
S59P |
probably damaging |
Het |
| Grin1 |
A |
C |
2: 25,203,522 (GRCm39) |
I163S |
probably benign |
Het |
| Haus5 |
A |
G |
7: 30,361,398 (GRCm39) |
I74T |
probably benign |
Het |
| Hmcn1 |
G |
A |
1: 150,613,356 (GRCm39) |
P1357L |
probably damaging |
Het |
| Kcnv1 |
A |
G |
15: 44,972,500 (GRCm39) |
I461T |
probably benign |
Het |
| Kmo |
A |
G |
1: 175,459,786 (GRCm39) |
M1V |
probably null |
Het |
| Krt80 |
G |
A |
15: 101,262,281 (GRCm39) |
R107C |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,377,491 (GRCm39) |
V1481A |
possibly damaging |
Het |
| Masp1 |
A |
G |
16: 23,314,887 (GRCm39) |
S125P |
probably damaging |
Het |
| Mroh2b |
C |
T |
15: 4,974,605 (GRCm39) |
P1195L |
probably benign |
Het |
| Neurl3 |
A |
T |
1: 36,305,539 (GRCm39) |
W223R |
probably benign |
Het |
| Or10h28 |
A |
G |
17: 33,487,853 (GRCm39) |
T52A |
probably benign |
Het |
| Or5g27 |
T |
A |
2: 85,410,340 (GRCm39) |
Y252* |
probably null |
Het |
| Or5k1b |
T |
C |
16: 58,581,126 (GRCm39) |
K138E |
possibly damaging |
Het |
| Or5m9 |
A |
T |
2: 85,877,335 (GRCm39) |
I170F |
probably benign |
Het |
| Pcdhb4 |
A |
C |
18: 37,442,943 (GRCm39) |
Y751S |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,592,766 (GRCm39) |
A733S |
probably benign |
Het |
| Pde4a |
A |
G |
9: 21,117,562 (GRCm39) |
E608G |
probably benign |
Het |
| Pfdn2 |
G |
A |
1: 171,185,377 (GRCm39) |
E98K |
unknown |
Het |
| Pikfyve |
T |
A |
1: 65,291,615 (GRCm39) |
V1278D |
probably damaging |
Het |
| Ptprb |
A |
T |
10: 116,204,694 (GRCm39) |
T1843S |
probably damaging |
Het |
| Rab12 |
G |
T |
17: 66,826,513 (GRCm39) |
A66E |
probably benign |
Het |
| Ralyl |
T |
C |
3: 13,841,887 (GRCm39) |
|
probably benign |
Het |
| Rbm47 |
A |
T |
5: 66,179,969 (GRCm39) |
|
probably null |
Het |
| Rev3l |
T |
A |
10: 39,743,384 (GRCm39) |
D3038E |
possibly damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,005 (GRCm39) |
F407L |
probably benign |
Het |
| S100pbp |
A |
T |
4: 129,049,271 (GRCm39) |
D332E |
probably damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,400,577 (GRCm39) |
V729A |
possibly damaging |
Het |
| Slfn5 |
A |
T |
11: 82,848,001 (GRCm39) |
E295D |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,316,775 (GRCm39) |
S518G |
probably damaging |
Het |
| Sorbs1 |
T |
C |
19: 40,381,954 (GRCm39) |
D29G |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,989,108 (GRCm39) |
E925K |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,199,946 (GRCm39) |
S2894P |
probably benign |
Het |
| Taar7a |
G |
A |
10: 23,869,309 (GRCm39) |
T24I |
probably benign |
Het |
| Tle7 |
T |
A |
8: 110,836,563 (GRCm39) |
W180R |
probably damaging |
Het |
| Ube2o |
A |
T |
11: 116,434,779 (GRCm39) |
C561S |
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,424,351 (GRCm39) |
I3213N |
|
Het |
| Vmn1r103 |
A |
G |
7: 20,244,353 (GRCm39) |
V36A |
possibly damaging |
Het |
| Vmn2r65 |
G |
A |
7: 84,590,084 (GRCm39) |
L611F |
probably benign |
Het |
| Zfp51 |
C |
T |
17: 21,683,871 (GRCm39) |
S162F |
probably damaging |
Het |
| Zfp518b |
G |
A |
5: 38,831,457 (GRCm39) |
H183Y |
probably damaging |
Het |
| Zfp622 |
A |
G |
15: 25,985,141 (GRCm39) |
E169G |
probably benign |
Het |
| Zfp703 |
A |
G |
8: 27,469,044 (GRCm39) |
D236G |
probably damaging |
Het |
| Zfp839 |
A |
T |
12: 110,821,932 (GRCm39) |
I249F |
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 |
|
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 |
|
R9801:Taf4b
|
UTSW |
18 |
14,932,235 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCACAATACTGGCTGAC -3'
(R):5'- CCCTCTGGAGACTGTAATACAC -3'
Sequencing Primer
(F):5'- CCAGCTAGGCCTATGTATTGAGATC -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation