Incidental Mutation 'R1611:Taf4b'
| ID |
176829 |
| 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 |
039648-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R1611 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 14977526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 766
(E766V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169862]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000169862
AA Change: E766V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: E766V
| 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 |
0.6075 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.2%
- 20x: 88.9%
|
| Validation Efficiency |
97% (75/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,216,390 (GRCm39) |
I186F |
possibly damaging |
Het |
| Actr6 |
T |
A |
10: 89,568,064 (GRCm39) |
K14* |
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,707,236 (GRCm39) |
V1390E |
probably damaging |
Het |
| Akap1 |
C |
T |
11: 88,736,104 (GRCm39) |
R186K |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,109,984 (GRCm39) |
V99D |
probably damaging |
Het |
| Atp2c1 |
C |
T |
9: 105,320,051 (GRCm39) |
G407S |
probably damaging |
Het |
| Atp9a |
T |
C |
2: 168,515,489 (GRCm39) |
M401V |
probably damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bclaf1 |
T |
C |
10: 20,198,998 (GRCm39) |
|
probably benign |
Het |
| Bcr |
T |
A |
10: 74,961,034 (GRCm39) |
|
probably null |
Het |
| Bivm |
T |
C |
1: 44,165,907 (GRCm39) |
I119T |
possibly damaging |
Het |
| Cacna1h |
A |
G |
17: 25,600,445 (GRCm39) |
I1632T |
probably damaging |
Het |
| Capn9 |
G |
A |
8: 125,338,251 (GRCm39) |
V537M |
possibly damaging |
Het |
| Cdk11b |
G |
A |
4: 155,726,032 (GRCm39) |
|
probably benign |
Het |
| Cdk18 |
T |
A |
1: 132,050,113 (GRCm39) |
I21F |
probably damaging |
Het |
| Cep85l |
T |
C |
10: 53,224,777 (GRCm39) |
T271A |
probably benign |
Het |
| Chrm5 |
T |
C |
2: 112,309,532 (GRCm39) |
N528S |
possibly damaging |
Het |
| Cpsf6 |
T |
A |
10: 117,197,733 (GRCm39) |
|
probably benign |
Het |
| Cpt1c |
T |
C |
7: 44,609,536 (GRCm39) |
T689A |
probably benign |
Het |
| D030068K23Rik |
T |
C |
8: 109,975,935 (GRCm39) |
Y64C |
unknown |
Het |
| Ddb1 |
T |
A |
19: 10,604,128 (GRCm39) |
|
probably null |
Het |
| Ddb1 |
T |
A |
19: 10,590,252 (GRCm39) |
C260S |
probably damaging |
Het |
| Depdc5 |
C |
A |
5: 33,148,297 (GRCm39) |
Q1478K |
probably damaging |
Het |
| Diaph1 |
A |
C |
18: 38,033,755 (GRCm39) |
M247R |
unknown |
Het |
| Dnai3 |
T |
C |
3: 145,801,113 (GRCm39) |
Y115C |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 141,636,694 (GRCm39) |
S299G |
probably benign |
Het |
| Erbb4 |
C |
A |
1: 68,079,547 (GRCm39) |
G1178C |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,186,091 (GRCm39) |
I370N |
possibly damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Gm12353 |
T |
A |
4: 19,631,843 (GRCm39) |
Y27* |
probably null |
Het |
| Gnl1 |
C |
T |
17: 36,298,441 (GRCm39) |
T395I |
probably damaging |
Het |
| Hpse2 |
G |
A |
19: 42,777,504 (GRCm39) |
T554I |
probably damaging |
Het |
| Hsd17b11 |
T |
C |
5: 104,157,765 (GRCm39) |
I116V |
probably benign |
Het |
| Inava |
G |
A |
1: 136,143,855 (GRCm39) |
P527L |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,423,552 (GRCm39) |
V233E |
probably benign |
Het |
| Klhl5 |
A |
G |
5: 65,321,992 (GRCm39) |
T673A |
probably benign |
Het |
| Kmt2c |
C |
A |
5: 25,564,309 (GRCm39) |
|
probably null |
Het |
| Lipg |
T |
C |
18: 75,081,130 (GRCm39) |
N317S |
possibly damaging |
Het |
| Lpin1 |
A |
T |
12: 16,627,219 (GRCm39) |
L109Q |
probably null |
Het |
| Lyst |
A |
G |
13: 13,809,482 (GRCm39) |
E384G |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,980,671 (GRCm39) |
I105N |
probably damaging |
Het |
| Muc4 |
C |
T |
16: 32,569,804 (GRCm39) |
T288I |
possibly damaging |
Het |
| Naa35 |
G |
T |
13: 59,776,747 (GRCm39) |
R574L |
probably benign |
Het |
| Ncor2 |
T |
C |
5: 125,187,084 (GRCm39) |
|
probably benign |
Het |
| Nedd9 |
T |
A |
13: 41,470,406 (GRCm39) |
D249V |
probably benign |
Het |
| Nsg1 |
T |
A |
5: 38,296,060 (GRCm39) |
K38* |
probably null |
Het |
| Nup155 |
T |
A |
15: 8,159,644 (GRCm39) |
D518E |
probably damaging |
Het |
| Or5i1 |
T |
A |
2: 87,612,968 (GRCm39) |
I28N |
probably benign |
Het |
| Ovol1 |
T |
A |
19: 5,601,098 (GRCm39) |
H231L |
probably damaging |
Het |
| Parg |
A |
G |
14: 31,960,527 (GRCm39) |
I586V |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,310,236 (GRCm39) |
N242S |
probably benign |
Het |
| Pias3 |
T |
A |
3: 96,607,013 (GRCm39) |
|
probably null |
Het |
| Pramel13 |
A |
T |
4: 144,119,382 (GRCm39) |
V395E |
probably benign |
Het |
| Ptprf |
A |
G |
4: 118,093,430 (GRCm39) |
V404A |
probably benign |
Het |
| Rigi |
T |
C |
4: 40,223,862 (GRCm39) |
Y339C |
probably damaging |
Het |
| Rnf145 |
T |
C |
11: 44,442,625 (GRCm39) |
L259P |
probably damaging |
Het |
| Rps6ka5 |
C |
G |
12: 100,537,111 (GRCm39) |
V540L |
possibly damaging |
Het |
| Ryr3 |
C |
T |
2: 112,483,850 (GRCm39) |
D3966N |
possibly damaging |
Het |
| Samd9l |
A |
T |
6: 3,373,771 (GRCm39) |
S1163R |
probably benign |
Het |
| Serpinb9g |
T |
C |
13: 33,676,857 (GRCm39) |
I213T |
possibly damaging |
Het |
| Sil1 |
A |
T |
18: 35,402,141 (GRCm39) |
V331E |
possibly damaging |
Het |
| Ski |
A |
G |
4: 155,244,395 (GRCm39) |
F410S |
probably damaging |
Het |
| Slc25a25 |
C |
T |
2: 32,310,391 (GRCm39) |
E123K |
probably damaging |
Het |
| Slfnl1 |
A |
G |
4: 120,390,574 (GRCm39) |
E75G |
probably benign |
Het |
| Sp1 |
T |
A |
15: 102,339,370 (GRCm39) |
I436N |
probably damaging |
Het |
| Tgfbr1 |
A |
G |
4: 47,396,526 (GRCm39) |
Y180C |
probably damaging |
Het |
| Ube4a |
T |
C |
9: 44,868,035 (GRCm39) |
|
probably benign |
Het |
| Vmn2r1 |
T |
A |
3: 64,011,958 (GRCm39) |
C606* |
probably null |
Het |
| Zfp341 |
C |
A |
2: 154,487,623 (GRCm39) |
H702Q |
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 |
|
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'- GCCATGTTCCAGCATGAACAATGTC -3'
(R):5'- TTGAAGTACTGCCCTTGCCTCCAG -3'
Sequencing Primer
(F):5'- CTTGACTAGACCTGACTGACATTG -3'
(R):5'- GCCTCCAGCAGTTCCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation