Incidental Mutation 'R8320:Taf4b'
| ID |
641930 |
| 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 |
067722-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.495)
|
| Stock # |
R8320 (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 14916749 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 33
(V33A)
|
| 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: V33A
PolyPhen 2
Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: V33A
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asb10 |
A |
G |
5: 24,742,626 (GRCm39) |
|
probably null |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Clec3a |
T |
C |
8: 115,152,369 (GRCm39) |
V125A |
probably benign |
Het |
| Clspn |
A |
G |
4: 126,457,743 (GRCm39) |
D258G |
possibly damaging |
Het |
| Cnn3 |
T |
G |
3: 121,243,635 (GRCm39) |
L32R |
probably damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,374,466 (GRCm39) |
F993L |
possibly damaging |
Het |
| Cobl |
A |
G |
11: 12,217,001 (GRCm39) |
S496P |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,291,043 (GRCm39) |
V2469A |
probably benign |
Het |
| Egfr |
T |
C |
11: 16,841,251 (GRCm39) |
F714S |
probably damaging |
Het |
| Erap1 |
G |
C |
13: 74,814,668 (GRCm39) |
E465Q |
probably benign |
Het |
| Ercc6 |
T |
C |
14: 32,242,972 (GRCm39) |
V204A |
probably benign |
Het |
| Fbln2 |
C |
T |
6: 91,234,749 (GRCm39) |
T689I |
possibly damaging |
Het |
| Fbxw13 |
G |
T |
9: 109,012,134 (GRCm39) |
T311K |
probably benign |
Het |
| Foxj2 |
T |
A |
6: 122,810,649 (GRCm39) |
S210T |
probably benign |
Het |
| Gnl1 |
A |
G |
17: 36,293,490 (GRCm39) |
N225S |
probably damaging |
Het |
| Grid2 |
T |
C |
6: 63,233,917 (GRCm39) |
I26T |
probably benign |
Het |
| Gzmd |
A |
G |
14: 56,367,190 (GRCm39) |
I234T |
probably benign |
Het |
| Igkv2-137 |
GA |
GAA |
6: 67,533,154 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,711,641 (GRCm39) |
|
probably null |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Klra10 |
A |
G |
6: 130,246,211 (GRCm39) |
C255R |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,768,366 (GRCm39) |
V455A |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,954,530 (GRCm39) |
T11A |
probably benign |
Het |
| Neb |
C |
A |
2: 52,186,343 (GRCm39) |
V910L |
probably benign |
Het |
| Pigg |
G |
A |
5: 108,495,717 (GRCm39) |
R918H |
probably benign |
Het |
| Poln |
A |
G |
5: 34,307,171 (GRCm39) |
V10A |
possibly damaging |
Het |
| Polr1a |
T |
A |
6: 71,918,368 (GRCm39) |
M642K |
probably damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,460,379 (GRCm39) |
Y167* |
probably null |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Sars2 |
C |
T |
7: 28,446,293 (GRCm39) |
T174I |
probably damaging |
Het |
| Septin4 |
T |
C |
11: 87,480,560 (GRCm39) |
V398A |
possibly damaging |
Het |
| Slc6a2 |
C |
T |
8: 93,719,476 (GRCm39) |
T397I |
probably benign |
Het |
| Smarca4 |
G |
T |
9: 21,588,798 (GRCm39) |
R1200L |
probably benign |
Het |
| Stx7 |
G |
T |
10: 24,055,046 (GRCm39) |
A63S |
probably damaging |
Het |
| Sval3 |
G |
A |
6: 41,949,458 (GRCm39) |
V99I |
probably benign |
Het |
| Syna |
A |
G |
5: 134,588,574 (GRCm39) |
I125T |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,150,604 (GRCm39) |
S1827P |
probably damaging |
Het |
| Tpcn2 |
C |
T |
7: 144,820,359 (GRCm39) |
R373H |
possibly damaging |
Het |
| Trpm1 |
A |
G |
7: 63,918,541 (GRCm39) |
D1511G |
possibly damaging |
Het |
| Ttc3 |
C |
A |
16: 94,219,535 (GRCm39) |
R487S |
probably damaging |
Het |
| Tubb3 |
T |
C |
8: 124,147,594 (GRCm39) |
S176P |
possibly damaging |
Het |
| Zfp189 |
C |
G |
4: 49,530,180 (GRCm39) |
Q428E |
probably benign |
Het |
| Zscan4d |
C |
T |
7: 10,799,942 (GRCm39) |
V316M |
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 |
|
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'- AAGCTCCGAGTTAAAGCTCC -3'
(R):5'- ACGGTGACTATCTGAGGAGC -3'
Sequencing Primer
(F):5'- AACTGAAGTGACGCCCTG -3'
(R):5'- CTATCTGAGGAGCGGGCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation