Incidental Mutation 'R8874:Taf4b'
ID |
676500 |
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 |
068744-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.439)
|
Stock # |
R8874 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
14916302-15033416 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 14963127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 622
(D622E)
|
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: D622E
PolyPhen 2
Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000126909 Gene: ENSMUSG00000054321 AA Change: D622E
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
98% (53/54) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
A |
G |
5: 8,875,671 (GRCm39) |
M615V |
possibly damaging |
Het |
Bud31 |
T |
C |
5: 145,079,379 (GRCm39) |
|
probably null |
Het |
Calhm4 |
A |
G |
10: 33,920,264 (GRCm39) |
M1T |
probably null |
Het |
Ccdc42 |
A |
G |
11: 68,485,396 (GRCm39) |
K105E |
probably damaging |
Het |
Cenpq |
A |
G |
17: 41,242,551 (GRCm39) |
S93P |
probably damaging |
Het |
Cfh |
A |
G |
1: 140,014,159 (GRCm39) |
F1222L |
probably damaging |
Het |
Cpxm2 |
A |
T |
7: 131,708,010 (GRCm39) |
|
probably null |
Het |
Cubn |
T |
C |
2: 13,365,157 (GRCm39) |
D1627G |
possibly damaging |
Het |
Diras2 |
T |
C |
13: 52,661,737 (GRCm39) |
E190G |
possibly damaging |
Het |
Dpyd |
G |
C |
3: 118,792,981 (GRCm39) |
A563P |
probably damaging |
Het |
Efcab8 |
T |
A |
2: 153,640,569 (GRCm39) |
N343K |
|
Het |
Gbp2b |
A |
G |
3: 142,314,040 (GRCm39) |
E440G |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,355,891 (GRCm39) |
F30L |
probably benign |
Het |
Gm3404 |
T |
A |
5: 146,464,953 (GRCm39) |
V231E |
possibly damaging |
Het |
Gramd4 |
A |
G |
15: 85,985,093 (GRCm39) |
H143R |
probably damaging |
Het |
Greb1l |
A |
T |
18: 10,544,896 (GRCm39) |
E1408V |
probably benign |
Het |
Hdgfl1 |
T |
G |
13: 26,954,007 (GRCm39) |
Y22S |
probably damaging |
Het |
Heatr1 |
T |
A |
13: 12,445,793 (GRCm39) |
V1590D |
probably damaging |
Het |
Hecw2 |
A |
T |
1: 53,943,608 (GRCm39) |
|
probably benign |
Het |
Igkv8-30 |
C |
A |
6: 70,094,150 (GRCm39) |
R87L |
probably damaging |
Het |
Il18rap |
T |
A |
1: 40,564,506 (GRCm39) |
C179S |
probably damaging |
Het |
Itprid2 |
A |
G |
2: 79,487,684 (GRCm39) |
K589R |
probably benign |
Het |
Jph4 |
T |
C |
14: 55,351,534 (GRCm39) |
T161A |
possibly damaging |
Het |
Klhdc7a |
A |
T |
4: 139,694,896 (GRCm39) |
M17K |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,056,209 (GRCm39) |
N699S |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,582,643 (GRCm39) |
|
probably null |
Het |
Lca5 |
A |
G |
9: 83,277,503 (GRCm39) |
F614L |
probably damaging |
Het |
Lyst |
T |
C |
13: 13,812,147 (GRCm39) |
V853A |
probably benign |
Het |
Map2 |
A |
T |
1: 66,455,523 (GRCm39) |
T1406S |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,771,617 (GRCm39) |
I552V |
possibly damaging |
Het |
Myo1h |
A |
T |
5: 114,472,163 (GRCm39) |
I414L |
|
Het |
Myom1 |
A |
G |
17: 71,413,199 (GRCm39) |
K1271E |
probably damaging |
Het |
Or14j5 |
A |
T |
17: 38,161,675 (GRCm39) |
K64M |
probably damaging |
Het |
Or2n1b |
T |
A |
17: 38,459,623 (GRCm39) |
V48E |
possibly damaging |
Het |
Or7e177 |
T |
C |
9: 20,212,069 (GRCm39) |
F192S |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Prdm2 |
A |
T |
4: 142,859,785 (GRCm39) |
D1168E |
possibly damaging |
Het |
Prr5 |
T |
C |
15: 84,583,916 (GRCm39) |
M181T |
probably damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,744,168 (GRCm39) |
I151T |
probably damaging |
Het |
Ptpn7 |
T |
C |
1: 135,067,004 (GRCm39) |
V287A |
possibly damaging |
Het |
Ptprz1 |
T |
C |
6: 23,042,747 (GRCm39) |
V2057A |
|
Het |
Rad17 |
G |
T |
13: 100,754,327 (GRCm39) |
A631E |
probably benign |
Het |
Sf3a2 |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT |
10: 80,640,271 (GRCm39) |
|
probably benign |
Het |
Slc22a2 |
A |
T |
17: 12,828,866 (GRCm39) |
D324V |
probably benign |
Het |
Strc |
C |
T |
2: 121,205,353 (GRCm39) |
|
probably null |
Het |
Tgfbrap1 |
A |
C |
1: 43,114,973 (GRCm39) |
N42K |
probably benign |
Het |
Uvrag |
A |
G |
7: 98,628,943 (GRCm39) |
F375L |
probably benign |
Het |
Vmn2r76 |
A |
G |
7: 85,877,999 (GRCm39) |
I466T |
probably damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,956,617 (GRCm39) |
K2E |
probably damaging |
Het |
Vps13d |
T |
C |
4: 144,881,772 (GRCm39) |
T1274A |
|
Het |
Vwa3b |
C |
T |
1: 37,074,839 (GRCm39) |
A2V |
possibly damaging |
Het |
Ylpm1 |
T |
C |
12: 85,116,394 (GRCm39) |
V2092A |
probably damaging |
Het |
Zfp638 |
T |
C |
6: 83,946,135 (GRCm39) |
S1055P |
probably damaging |
Het |
Zzef1 |
A |
G |
11: 72,754,815 (GRCm39) |
T982A |
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 |
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'- GGGCGTTCTTAAAGTCACTTC -3'
(R):5'- TTAGAGTCCCAGGCCATCTC -3'
Sequencing Primer
(F):5'- CGTTCTTAAAGTCACTTCGTAGG -3'
(R):5'- TCTGTAGAGCTCCAATGAC -3'
|
Posted On |
2021-07-15 |