Incidental Mutation 'R5874:Taf4b'
| ID |
455422 |
| 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 |
044081-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.439)
|
| Stock # |
R5874 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14937611 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 228
(V228A)
|
| 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: V228A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: V228A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.6%
|
| Validation Efficiency |
98% (86/88) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
G |
A |
7: 29,280,610 (GRCm39) |
|
noncoding transcript |
Het |
| Adam17 |
T |
C |
12: 21,379,087 (GRCm39) |
D654G |
possibly damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,773,322 (GRCm39) |
H1373L |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,416,656 (GRCm39) |
|
probably benign |
Het |
| Calu |
A |
G |
6: 29,372,617 (GRCm39) |
D112G |
probably damaging |
Het |
| Camk2a |
G |
C |
18: 61,076,272 (GRCm39) |
|
probably benign |
Het |
| Cpn1 |
C |
A |
19: 43,944,951 (GRCm39) |
R452L |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,507,666 (GRCm39) |
E2780V |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,879,413 (GRCm39) |
T824A |
probably benign |
Het |
| Cuedc2 |
C |
T |
19: 46,319,824 (GRCm39) |
V164M |
possibly damaging |
Het |
| Cyp2d34 |
T |
A |
15: 82,503,243 (GRCm39) |
D74V |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,422,780 (GRCm39) |
S311P |
probably damaging |
Het |
| Ddx10 |
A |
C |
9: 53,140,498 (GRCm39) |
I301R |
possibly damaging |
Het |
| Dmpk |
T |
C |
7: 18,826,007 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
C |
T |
1: 46,230,885 (GRCm39) |
T1381I |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,218,670 (GRCm39) |
N1703K |
probably damaging |
Het |
| Dtwd1 |
T |
A |
2: 126,000,359 (GRCm39) |
H98Q |
probably damaging |
Het |
| Ecel1 |
A |
C |
1: 87,075,731 (GRCm39) |
V769G |
probably benign |
Het |
| Eno4 |
T |
C |
19: 58,935,238 (GRCm39) |
V150A |
probably benign |
Het |
| Evc2 |
C |
T |
5: 37,574,883 (GRCm39) |
|
probably benign |
Het |
| Ext1 |
T |
A |
15: 52,965,148 (GRCm39) |
Q406L |
possibly damaging |
Het |
| Foxf2 |
A |
G |
13: 31,810,775 (GRCm39) |
H238R |
probably benign |
Het |
| Frem2 |
C |
G |
3: 53,444,910 (GRCm39) |
G2407A |
probably benign |
Het |
| Fzd10 |
A |
G |
5: 128,678,364 (GRCm39) |
E28G |
probably benign |
Het |
| Galnt15 |
T |
C |
14: 31,774,324 (GRCm39) |
F363L |
probably damaging |
Het |
| Gm1758 |
C |
T |
16: 14,325,037 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5866 |
C |
T |
5: 52,739,956 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr9 |
T |
A |
11: 83,405,426 (GRCm39) |
M345L |
probably benign |
Het |
| Il23r |
A |
T |
6: 67,408,629 (GRCm39) |
F404Y |
possibly damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,147,148 (GRCm39) |
I654T |
probably damaging |
Het |
| Napg |
A |
T |
18: 63,111,091 (GRCm39) |
K18* |
probably null |
Het |
| Ndst3 |
A |
T |
3: 123,355,556 (GRCm39) |
W573R |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,077,692 (GRCm39) |
S1038G |
possibly damaging |
Het |
| Nudt12 |
T |
A |
17: 59,317,279 (GRCm39) |
R123* |
probably null |
Het |
| Oas1g |
T |
A |
5: 121,015,081 (GRCm39) |
N361Y |
probably benign |
Het |
| Or5p51 |
T |
A |
7: 107,444,377 (GRCm39) |
I188L |
probably benign |
Het |
| Or7a35 |
T |
A |
10: 78,853,191 (GRCm39) |
F12I |
possibly damaging |
Het |
| Or8h10 |
A |
T |
2: 86,808,786 (GRCm39) |
M118K |
probably damaging |
Het |
| Osbpl10 |
T |
C |
9: 115,055,828 (GRCm39) |
F667L |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,621,988 (GRCm39) |
D664G |
probably damaging |
Het |
| Piezo2 |
C |
T |
18: 63,160,972 (GRCm39) |
V2263M |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,858,688 (GRCm39) |
L615P |
probably damaging |
Het |
| Pnpla7 |
G |
A |
2: 24,901,661 (GRCm39) |
M562I |
probably benign |
Het |
| Pou2af2 |
A |
T |
9: 51,201,672 (GRCm39) |
L128* |
probably null |
Het |
| Ppp1r13b |
C |
A |
12: 111,811,423 (GRCm39) |
R155L |
probably damaging |
Het |
| Pygb |
C |
T |
2: 150,628,798 (GRCm39) |
P4L |
probably benign |
Het |
| Rbm44 |
T |
C |
1: 91,084,562 (GRCm39) |
|
probably null |
Het |
| Rilpl2 |
T |
C |
5: 124,607,876 (GRCm39) |
T115A |
probably benign |
Het |
| Rin3 |
A |
G |
12: 102,356,102 (GRCm39) |
Y801C |
probably damaging |
Het |
| Rnf112 |
A |
G |
11: 61,340,273 (GRCm39) |
V619A |
probably damaging |
Het |
| Rnf182 |
A |
G |
13: 43,821,563 (GRCm39) |
E38G |
probably benign |
Het |
| Scgb2b24 |
T |
A |
7: 33,436,830 (GRCm39) |
Y94F |
probably damaging |
Het |
| Serac1 |
C |
A |
17: 6,094,188 (GRCm39) |
|
probably benign |
Het |
| Shld2 |
T |
C |
14: 33,967,215 (GRCm39) |
T114A |
probably benign |
Het |
| Slc6a19 |
A |
T |
13: 73,832,487 (GRCm39) |
V402D |
probably damaging |
Het |
| Slco1a8 |
A |
T |
6: 141,917,961 (GRCm39) |
H638Q |
probably benign |
Het |
| Slco2b1 |
T |
A |
7: 99,316,301 (GRCm39) |
M410L |
probably benign |
Het |
| Smarca2 |
T |
C |
19: 26,753,469 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
A |
G |
1: 93,193,067 (GRCm39) |
Y409C |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,386,555 (GRCm39) |
V161A |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,504 (GRCm39) |
V162A |
probably damaging |
Het |
| Sptb |
T |
C |
12: 76,645,501 (GRCm39) |
E2029G |
possibly damaging |
Het |
| Stx7 |
T |
A |
10: 24,058,659 (GRCm39) |
|
probably null |
Het |
| Tbc1d1 |
A |
G |
5: 64,507,273 (GRCm39) |
*1163W |
probably null |
Het |
| Tor4a |
G |
A |
2: 25,084,847 (GRCm39) |
A352V |
probably damaging |
Het |
| Trpm4 |
A |
G |
7: 44,977,173 (GRCm39) |
F81S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,780,436 (GRCm39) |
D1105V |
probably damaging |
Het |
| Vcf1 |
T |
A |
11: 113,568,220 (GRCm39) |
R78S |
probably damaging |
Het |
| Yju2b |
T |
A |
8: 84,985,177 (GRCm39) |
D364V |
possibly damaging |
Het |
| Zfp551 |
A |
G |
7: 12,150,101 (GRCm39) |
L436P |
probably damaging |
Het |
| Zfp975 |
G |
T |
7: 42,312,312 (GRCm39) |
D100E |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,032 (GRCm39) |
I171V |
probably benign |
Het |
| Zwint |
C |
T |
10: 72,492,294 (GRCm39) |
|
probably benign |
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 |
|
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'- TGCCAGAATTCATTTGGAGCC -3'
(R):5'- AGACTGTGATCCACTACATGC -3'
Sequencing Primer
(F):5'- CCTTTTTAGTGTAAAGCAAAGGACCC -3'
(R):5'- TTCACATTTTCTAGCACTGTCTG -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation