Incidental Mutation 'R8535:Taf4b'
| ID |
659221 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf4b
|
| Ensembl Gene |
ENSMUSG00000054321 |
| Gene Name |
TATA-box binding protein associated factor 4b |
| Synonyms |
Taf2c2, TAFII105, 2610524B04Rik, 105kDa, 4932409F03Rik |
| MMRRC Submission |
068504-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
R8535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
14783245-14900359 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 14822138 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 583
(S583T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126909
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000169862]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169862
AA Change: S583T
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: S583T
| 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: 98.9%
|
| Validation Efficiency |
100% (34/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,338,502 (GRCm38) |
I362F |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,948,631 (GRCm38) |
S1154T |
probably benign |
Het |
| Bsn |
G |
A |
9: 108,111,452 (GRCm38) |
A2367V |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,859,211 (GRCm38) |
S2434T |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 134,081,203 (GRCm38) |
S1372P |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 67,793,976 (GRCm38) |
Y1002H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,186,001 (GRCm38) |
S1163P |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,601,097 (GRCm38) |
S14T |
probably benign |
Het |
| Gcnt7 |
T |
C |
2: 172,454,546 (GRCm38) |
I119M |
possibly damaging |
Het |
| Gja10 |
G |
A |
4: 32,602,274 (GRCm38) |
L37F |
probably damaging |
Het |
| Gm10750 |
A |
G |
2: 149,015,968 (GRCm38) |
V121A |
unknown |
Het |
| Klhl25 |
G |
A |
7: 75,866,095 (GRCm38) |
V250I |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,819,515 (GRCm38) |
S200R |
possibly damaging |
Het |
| Map1b |
T |
A |
13: 99,435,154 (GRCm38) |
D353V |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,278,915 (GRCm38) |
R20Q |
probably damaging |
Het |
| Or4c127 |
G |
A |
2: 90,003,167 (GRCm38) |
V254M |
probably benign |
Het |
| Or6c200-ps1 |
T |
C |
10: 129,034,023 (GRCm38) |
Y273C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,420,205 (GRCm38) |
R734W |
probably damaging |
Het |
| Pkn3 |
A |
T |
2: 30,079,924 (GRCm38) |
|
probably null |
Het |
| Ptpn21 |
T |
A |
12: 98,680,026 (GRCm38) |
T1058S |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,949,088 (GRCm38) |
|
probably null |
Het |
| Sardh |
T |
A |
2: 27,239,645 (GRCm38) |
I263F |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 140,224,721 (GRCm38) |
V546M |
probably benign |
Het |
| Sh3bp5 |
A |
G |
14: 31,417,418 (GRCm38) |
V66A |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 166,101,161 (GRCm38) |
D294G |
probably benign |
Het |
| Tbcb |
G |
A |
7: 30,226,996 (GRCm38) |
P132L |
probably benign |
Het |
| Tcirg1 |
A |
G |
19: 3,896,324 (GRCm38) |
I791T |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,181,826 (GRCm38) |
V320D |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 60,970,968 (GRCm38) |
E368G |
probably benign |
Het |
| Trdv2-1 |
T |
A |
14: 53,946,515 (GRCm38) |
I67N |
probably damaging |
Het |
| Unc13c |
G |
A |
9: 73,540,371 (GRCm38) |
T1849I |
probably benign |
Het |
| Vav2 |
G |
A |
2: 27,271,829 (GRCm38) |
T655I |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,565,612 (GRCm38) |
Y517H |
possibly damaging |
Het |
| Wdr27 |
G |
A |
17: 14,903,537 (GRCm38) |
T558I |
possibly damaging |
Het |
| Yeats2 |
C |
T |
16: 20,159,176 (GRCm38) |
R137W |
probably damaging |
Het |
|
| Other mutations in Taf4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01658:Taf4b
|
APN |
18 |
14,844,420 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01755:Taf4b
|
APN |
18 |
14,897,986 (GRCm38) |
missense |
probably benign |
0.13 |
|
IGL01755:Taf4b
|
APN |
18 |
14,897,985 (GRCm38) |
missense |
probably benign |
|
|
IGL02049:Taf4b
|
APN |
18 |
14,830,139 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02650:Taf4b
|
APN |
18 |
14,841,983 (GRCm38) |
nonsense |
probably null |
|
|
IGL03078:Taf4b
|
APN |
18 |
14,813,554 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
IGL03169:Taf4b
|
APN |
18 |
14,821,535 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03261:Taf4b
|
APN |
18 |
14,821,528 (GRCm38) |
missense |
probably benign |
|
|
adirondack
|
UTSW |
18 |
14,804,578 (GRCm38) |
missense |
probably null |
0.16 |
|
R0266:Taf4b
|
UTSW |
18 |
14,813,077 (GRCm38) |
splice site |
probably benign |
|
|
R0385:Taf4b
|
UTSW |
18 |
14,783,760 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1015:Taf4b
|
UTSW |
18 |
14,813,098 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1054:Taf4b
|
UTSW |
18 |
14,821,473 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1416:Taf4b
|
UTSW |
18 |
14,821,427 (GRCm38) |
splice site |
probably benign |
|
|
R1435:Taf4b
|
UTSW |
18 |
14,807,409 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1609:Taf4b
|
UTSW |
18 |
14,835,881 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1611:Taf4b
|
UTSW |
18 |
14,844,469 (GRCm38) |
missense |
probably null |
1.00 |
|
R1906:Taf4b
|
UTSW |
18 |
14,822,102 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2038:Taf4b
|
UTSW |
18 |
14,807,399 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2890:Taf4b
|
UTSW |
18 |
14,804,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4527:Taf4b
|
UTSW |
18 |
14,821,442 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4559:Taf4b
|
UTSW |
18 |
14,813,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4773:Taf4b
|
UTSW |
18 |
14,804,520 (GRCm38) |
missense |
probably benign |
0.30 |
|
R4857:Taf4b
|
UTSW |
18 |
14,804,578 (GRCm38) |
missense |
probably null |
0.16 |
|
R4946:Taf4b
|
UTSW |
18 |
14,813,542 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4984:Taf4b
|
UTSW |
18 |
14,835,816 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4994:Taf4b
|
UTSW |
18 |
14,898,043 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5010:Taf4b
|
UTSW |
18 |
14,822,172 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R5155:Taf4b
|
UTSW |
18 |
14,830,095 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5874:Taf4b
|
UTSW |
18 |
14,804,554 (GRCm38) |
missense |
probably benign |
|
|
R6079:Taf4b
|
UTSW |
18 |
14,822,198 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R6303:Taf4b
|
UTSW |
18 |
14,807,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6304:Taf4b
|
UTSW |
18 |
14,807,355 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6372:Taf4b
|
UTSW |
18 |
14,804,733 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6972:Taf4b
|
UTSW |
18 |
14,813,347 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R7538:Taf4b
|
UTSW |
18 |
14,813,545 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7790:Taf4b
|
UTSW |
18 |
14,813,274 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8021:Taf4b
|
UTSW |
18 |
14,804,524 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8072:Taf4b
|
UTSW |
18 |
14,821,528 (GRCm38) |
missense |
probably benign |
|
|
R8075:Taf4b
|
UTSW |
18 |
14,783,692 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8145:Taf4b
|
UTSW |
18 |
14,830,028 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8221:Taf4b
|
UTSW |
18 |
14,898,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8320:Taf4b
|
UTSW |
18 |
14,783,692 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R8509:Taf4b
|
UTSW |
18 |
14,898,055 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8772:Taf4b
|
UTSW |
18 |
14,835,852 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8805:Taf4b
|
UTSW |
18 |
14,813,428 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8874:Taf4b
|
UTSW |
18 |
14,830,070 (GRCm38) |
missense |
probably benign |
0.39 |
|
R9155:Taf4b
|
UTSW |
18 |
14,813,239 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9254:Taf4b
|
UTSW |
18 |
14,813,374 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9338:Taf4b
|
UTSW |
18 |
14,821,498 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9379:Taf4b
|
UTSW |
18 |
14,813,374 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9630:Taf4b
|
UTSW |
18 |
14,797,020 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9686:Taf4b
|
UTSW |
18 |
14,799,158 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R9801:Taf4b
|
UTSW |
18 |
14,799,178 (GRCm38) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGTTCTGGGCAGCTTAAGAC -3'
(R):5'- AGCATGTACAATTTGTGTCTGC -3'
Sequencing Primer
(F):5'- TTGGGAAGAGGTATTCTACT -3'
(R):5'- AGGTTATGAACTGCCACGTG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation