Incidental Mutation 'R1054:Taf4b'
| ID |
94233 |
| 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 |
039144-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.439)
|
| Stock # |
R1054 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14954530 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 535
(H535Q)
|
| 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: H535Q
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: H535Q
| 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: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap39 |
T |
C |
15: 76,635,759 (GRCm39) |
T159A |
probably benign |
Het |
| Arhgef38 |
T |
C |
3: 132,822,226 (GRCm39) |
Y763C |
probably damaging |
Het |
| Arv1 |
T |
A |
8: 125,458,611 (GRCm39) |
F245Y |
probably benign |
Het |
| Ccdc175 |
A |
G |
12: 72,225,318 (GRCm39) |
I113T |
possibly damaging |
Het |
| Cdc42bpb |
A |
T |
12: 111,279,787 (GRCm39) |
M932K |
probably benign |
Het |
| Cdh15 |
T |
C |
8: 123,591,076 (GRCm39) |
F442L |
possibly damaging |
Het |
| Col28a1 |
C |
T |
6: 8,175,534 (GRCm39) |
D105N |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,899,600 (GRCm39) |
T428A |
probably benign |
Het |
| Cramp1 |
T |
A |
17: 25,202,151 (GRCm39) |
I444F |
probably damaging |
Het |
| Dhx32 |
T |
A |
7: 133,327,001 (GRCm39) |
K360M |
probably damaging |
Het |
| Dna2 |
T |
A |
10: 62,799,602 (GRCm39) |
C669S |
possibly damaging |
Het |
| Dusp8 |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGC |
7: 141,635,804 (GRCm39) |
|
probably benign |
Het |
| Eif3f |
G |
A |
7: 108,537,024 (GRCm39) |
|
probably null |
Het |
| Elmod1 |
T |
C |
9: 53,820,058 (GRCm39) |
D310G |
probably benign |
Het |
| Fn1 |
A |
G |
1: 71,625,373 (GRCm39) |
*2272Q |
probably null |
Het |
| Gnat1 |
A |
G |
9: 107,554,638 (GRCm39) |
S76P |
probably damaging |
Het |
| Gtf2f2 |
T |
C |
14: 76,232,885 (GRCm39) |
T94A |
probably benign |
Het |
| Hacd4 |
A |
T |
4: 88,341,264 (GRCm39) |
W152R |
probably damaging |
Het |
| Kcnh8 |
A |
G |
17: 53,110,512 (GRCm39) |
Y241C |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,639,793 (GRCm39) |
I753T |
probably damaging |
Het |
| Med12l |
C |
T |
3: 59,156,072 (GRCm39) |
H1162Y |
probably damaging |
Het |
| Med25 |
C |
T |
7: 44,529,804 (GRCm39) |
A485T |
probably benign |
Het |
| Mup5 |
A |
T |
4: 61,750,871 (GRCm39) |
S145R |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,468,987 (GRCm39) |
V105A |
probably damaging |
Het |
| Npc2 |
A |
G |
12: 84,807,492 (GRCm39) |
|
probably null |
Het |
| Or52h1 |
A |
G |
7: 103,829,498 (GRCm39) |
I39T |
probably benign |
Het |
| Or6p1 |
A |
G |
1: 174,258,419 (GRCm39) |
T142A |
probably benign |
Het |
| Otulinl |
T |
C |
15: 27,664,635 (GRCm39) |
R79G |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,371,725 (GRCm39) |
S2557P |
probably damaging |
Het |
| Pop1 |
T |
C |
15: 34,509,955 (GRCm39) |
V353A |
probably benign |
Het |
| Pou3f2 |
A |
G |
4: 22,487,536 (GRCm39) |
V199A |
possibly damaging |
Het |
| Pramel18 |
A |
G |
4: 101,766,361 (GRCm39) |
E15G |
probably benign |
Het |
| Ptprm |
A |
T |
17: 67,349,313 (GRCm39) |
N43K |
probably damaging |
Het |
| Qrsl1 |
C |
T |
10: 43,758,077 (GRCm39) |
D339N |
probably damaging |
Het |
| Rpl13-ps3 |
C |
A |
14: 59,131,394 (GRCm39) |
|
noncoding transcript |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Sdr16c6 |
A |
G |
4: 4,069,908 (GRCm39) |
V144A |
probably damaging |
Het |
| Spata31d1b |
C |
A |
13: 59,865,332 (GRCm39) |
H827N |
probably damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,856,432 (GRCm39) |
V690A |
probably benign |
Het |
| Timmdc1 |
A |
G |
16: 38,342,790 (GRCm39) |
V36A |
probably benign |
Het |
| Tmem74b |
C |
T |
2: 151,548,339 (GRCm39) |
A22V |
probably benign |
Het |
| Txnrd3 |
T |
A |
6: 89,627,543 (GRCm39) |
Y65* |
probably null |
Het |
| Vmn1r200 |
T |
A |
13: 22,579,624 (GRCm39) |
S133R |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,567,190 (GRCm39) |
C311Y |
probably damaging |
Het |
| Wipf2 |
G |
A |
11: 98,787,141 (GRCm39) |
R390H |
possibly damaging |
Het |
| Zfp282 |
T |
A |
6: 47,881,533 (GRCm39) |
S407T |
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 |
|
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'- GAGAGAACAGCACTTTGTGATGGGTTT -3'
(R):5'- AGCCCTGCCCTGCTCCAGAT -3'
Sequencing Primer
(F):5'- acaaaccctagcatttggaaaac -3'
(R):5'- CTCCAGATGCACTGGGTGAAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation