Incidental Mutation 'R9155:Taf4b'
| ID |
695344 |
| 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 |
068941-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.439)
|
| Stock # |
R9155 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14946296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 373
(V373A)
|
| 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: V373A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: V373A
| 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: 99.7%
- 20x: 99.0%
|
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700028K03Rik |
A |
G |
5: 107,691,811 (GRCm39) |
E34G |
probably damaging |
Het |
| Aldh1a3 |
A |
T |
7: 66,058,867 (GRCm39) |
L157* |
probably null |
Het |
| Asic2 |
T |
A |
11: 80,784,872 (GRCm39) |
T356S |
probably benign |
Het |
| Ate1 |
T |
C |
7: 129,996,463 (GRCm39) |
D459G |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,350,423 (GRCm39) |
Q474L |
|
Het |
| Calhm6 |
T |
C |
10: 34,002,363 (GRCm39) |
E240G |
probably damaging |
Het |
| Carf |
C |
A |
1: 60,189,842 (GRCm39) |
T689K |
possibly damaging |
Het |
| Carmil2 |
A |
G |
8: 106,412,922 (GRCm39) |
D6G |
probably benign |
Het |
| Ccnd2 |
A |
C |
6: 127,127,663 (GRCm39) |
V25G |
probably damaging |
Het |
| Ccnk |
T |
A |
12: 108,159,978 (GRCm39) |
F153L |
probably damaging |
Het |
| Cdh23 |
C |
T |
10: 60,249,485 (GRCm39) |
G808E |
probably damaging |
Het |
| Clec11a |
C |
T |
7: 43,954,317 (GRCm39) |
R212Q |
probably damaging |
Het |
| Cog4 |
T |
C |
8: 111,608,384 (GRCm39) |
W749R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,738,301 (GRCm39) |
T1073S |
probably benign |
Het |
| Col6a4 |
T |
A |
9: 105,952,209 (GRCm39) |
D563V |
probably benign |
Het |
| Coq5 |
A |
G |
5: 115,433,839 (GRCm39) |
|
probably null |
Het |
| Crebbp |
A |
C |
16: 3,914,346 (GRCm39) |
H1292Q |
probably damaging |
Het |
| Csmd3 |
C |
A |
15: 47,449,051 (GRCm39) |
G2737W |
|
Het |
| Ddrgk1 |
T |
C |
2: 130,500,227 (GRCm39) |
Y223C |
probably damaging |
Het |
| Dennd1c |
T |
C |
17: 57,373,796 (GRCm39) |
Q589R |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,907,475 (GRCm39) |
D4336G |
probably damaging |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,938 (GRCm39) |
Q140L |
possibly damaging |
Het |
| Ergic3 |
A |
G |
2: 155,850,780 (GRCm39) |
Y83C |
probably damaging |
Het |
| Fam171a2 |
A |
T |
11: 102,329,497 (GRCm39) |
S421T |
probably benign |
Het |
| Fndc3a |
T |
A |
14: 72,921,162 (GRCm39) |
H4L |
possibly damaging |
Het |
| Gid8 |
T |
A |
2: 180,359,756 (GRCm39) |
Y213* |
probably null |
Het |
| Hephl1 |
G |
T |
9: 15,000,375 (GRCm39) |
H292Q |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,314,414 (GRCm39) |
Y443C |
probably damaging |
Het |
| Htr1f |
C |
T |
16: 64,746,788 (GRCm39) |
R168H |
probably benign |
Het |
| Hus1 |
A |
G |
11: 8,956,056 (GRCm39) |
I159T |
probably damaging |
Het |
| Inha |
A |
G |
1: 75,486,133 (GRCm39) |
T143A |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
| Itgae |
G |
T |
11: 73,016,089 (GRCm39) |
C766F |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,666,563 (GRCm39) |
E628G |
probably benign |
Het |
| Kctd19 |
T |
C |
8: 106,120,571 (GRCm39) |
H221R |
probably benign |
Het |
| Llgl1 |
A |
G |
11: 60,597,934 (GRCm39) |
E351G |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,202,508 (GRCm39) |
Y253C |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,291,713 (GRCm39) |
R3489* |
probably null |
Het |
| Lrriq1 |
T |
C |
10: 103,050,640 (GRCm39) |
N704S |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,235,693 (GRCm39) |
N995S |
probably benign |
Het |
| Mga |
T |
C |
2: 119,757,013 (GRCm39) |
C1077R |
probably damaging |
Het |
| Muc21 |
G |
A |
17: 35,932,131 (GRCm39) |
P685L |
unknown |
Het |
| Ndufv1 |
A |
T |
19: 4,059,912 (GRCm39) |
C142S |
probably damaging |
Het |
| Nkx3-1 |
T |
C |
14: 69,429,660 (GRCm39) |
L226P |
probably damaging |
Het |
| Nsd1 |
C |
T |
13: 55,361,253 (GRCm39) |
R74W |
probably damaging |
Het |
| Or12k8 |
A |
C |
2: 36,975,016 (GRCm39) |
M248R |
probably benign |
Het |
| Or1d2 |
A |
G |
11: 74,255,791 (GRCm39) |
T99A |
probably benign |
Het |
| Or2n1d |
A |
T |
17: 38,646,224 (GRCm39) |
M59L |
probably damaging |
Het |
| Or5b99 |
G |
A |
19: 12,976,428 (GRCm39) |
C26Y |
probably benign |
Het |
| Or7g35 |
A |
T |
9: 19,496,379 (GRCm39) |
D182V |
probably benign |
Het |
| Phc3 |
A |
G |
3: 30,968,691 (GRCm39) |
V812A |
probably benign |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Ppp4c |
A |
T |
7: 126,386,419 (GRCm39) |
C193S |
possibly damaging |
Het |
| Rbbp5 |
C |
A |
1: 132,422,023 (GRCm39) |
P308T |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,148,380 (GRCm39) |
T607A |
probably null |
Het |
| Secisbp2l |
G |
A |
2: 125,617,623 (GRCm39) |
P18L |
probably damaging |
Het |
| Slc27a4 |
G |
A |
2: 29,701,294 (GRCm39) |
G362S |
probably damaging |
Het |
| Slc4a8 |
T |
C |
15: 100,672,571 (GRCm39) |
Y36H |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,447 (GRCm39) |
Y251C |
probably damaging |
Het |
| Spata31h1 |
A |
T |
10: 82,120,203 (GRCm39) |
I4269N |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,881,184 (GRCm39) |
V107E |
probably damaging |
Het |
| Them7 |
A |
G |
2: 105,209,124 (GRCm39) |
Y148C |
probably damaging |
Het |
| Tktl2 |
T |
A |
8: 66,965,858 (GRCm39) |
M472K |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,625,937 (GRCm39) |
V15041I |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,754,615 (GRCm39) |
V751A |
possibly damaging |
Het |
| Vmn1r213 |
A |
T |
13: 23,196,343 (GRCm39) |
R309* |
probably null |
Het |
| Vmn2r10 |
A |
T |
5: 109,144,212 (GRCm39) |
D579E |
probably benign |
Het |
| Vmn2r118 |
T |
C |
17: 55,917,207 (GRCm39) |
Q435R |
probably null |
Het |
| Vmn2r50 |
A |
T |
7: 9,781,571 (GRCm39) |
H391Q |
probably damaging |
Het |
| Zbtb44 |
A |
T |
9: 30,965,309 (GRCm39) |
I240F |
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 |
|
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 |
|
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'- GTGCTTACCTAACTTGATGTGG -3'
(R):5'- ACACTGCTGCCACTGTATTTG -3'
Sequencing Primer
(F):5'- GCAAATTTCGCTTTACTTTGAGC -3'
(R):5'- CTGCCACTGTATTTGGTACTGATG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation