Incidental Mutation 'R4559:Taf4b'
| ID |
343009 |
| 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 |
041785-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.321)
|
| Stock # |
R4559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
14783245-14900359 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14813526 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 469
(S469P)
|
| 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: S469P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126909
Gene: ENSMUSG00000054321
AA Change: S469P
| 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 |
|
| Meta Mutation Damage Score |
0.1356 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,513,091 (GRCm38) |
|
noncoding transcript |
Het |
| 1700066M21Rik |
T |
C |
1: 57,382,924 (GRCm38) |
F153S |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,638,485 (GRCm38) |
V222A |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,943,223 (GRCm38) |
I247M |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,438,120 (GRCm38) |
I398V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,871,513 (GRCm38) |
C2312S |
probably damaging |
Het |
| Cidea |
C |
T |
18: 67,360,228 (GRCm38) |
Q106* |
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,405,685 (GRCm38) |
T159A |
probably damaging |
Het |
| Cyp2j12 |
G |
T |
4: 96,112,957 (GRCm38) |
S304R |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,470,921 (GRCm38) |
V815E |
probably damaging |
Het |
| Fam122b |
G |
A |
X: 53,260,677 (GRCm38) |
|
probably benign |
Het |
| Fam189a2 |
G |
A |
19: 24,030,549 (GRCm38) |
S130L |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,272,801 (GRCm38) |
M737T |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,351,714 (GRCm38) |
D1395V |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,076,074 (GRCm38) |
M1076I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,472,673 (GRCm38) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,781,289 (GRCm38) |
R3851G |
probably damaging |
Het |
| Frem2 |
C |
T |
3: 53,654,321 (GRCm38) |
V922I |
probably benign |
Het |
| Gm10719 |
A |
T |
9: 3,018,945 (GRCm38) |
T200S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,844,555 (GRCm38) |
D176G |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,199,102 (GRCm38) |
|
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,090,767 (GRCm38) |
H1090Q |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,749,284 (GRCm38) |
T104A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,626,712 (GRCm38) |
D93G |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,562,090 (GRCm38) |
K176R |
probably benign |
Het |
| Jph1 |
A |
T |
1: 17,004,511 (GRCm38) |
C428S |
probably benign |
Het |
| Kif13b |
G |
T |
14: 64,806,132 (GRCm38) |
G1794W |
probably damaging |
Het |
| Map10 |
A |
G |
8: 125,671,814 (GRCm38) |
T649A |
probably benign |
Het |
| Med12l |
T |
C |
3: 59,007,102 (GRCm38) |
|
probably null |
Het |
| Nat8f1 |
A |
G |
6: 85,910,585 (GRCm38) |
I131T |
probably benign |
Het |
| Oas1d |
C |
A |
5: 120,916,895 (GRCm38) |
Q177K |
probably benign |
Het |
| Olfr1247 |
C |
A |
2: 89,609,699 (GRCm38) |
M134I |
probably damaging |
Het |
| Olfr635 |
G |
A |
7: 103,979,560 (GRCm38) |
D123N |
probably damaging |
Het |
| P2ry2 |
A |
G |
7: 100,998,156 (GRCm38) |
V314A |
possibly damaging |
Het |
| Pfkl |
G |
T |
10: 77,988,883 (GRCm38) |
R691S |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,332,831 (GRCm38) |
I1005N |
probably damaging |
Het |
| Prkacb |
A |
G |
3: 146,745,392 (GRCm38) |
|
probably benign |
Het |
| Ptprm |
A |
T |
17: 66,683,408 (GRCm38) |
Y1412N |
possibly damaging |
Het |
| Rab22a |
A |
G |
2: 173,661,433 (GRCm38) |
D13G |
probably damaging |
Het |
| Rab29 |
G |
A |
1: 131,872,567 (GRCm38) |
W201* |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,598,259 (GRCm38) |
E135G |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,955,131 (GRCm38) |
E313G |
probably benign |
Het |
| Sf1 |
GGCAGCAGCAGCAGCAGCAGC |
GGCAGCAGCAGCAGCAGC |
19: 6,374,815 (GRCm38) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,332,253 (GRCm38) |
L468Q |
probably damaging |
Het |
| Slc17a1 |
A |
T |
13: 23,878,712 (GRCm38) |
K254* |
probably null |
Het |
| Slc6a12 |
G |
A |
6: 121,363,861 (GRCm38) |
|
probably null |
Het |
| Slfn8 |
A |
G |
11: 83,004,744 (GRCm38) |
L412P |
probably damaging |
Het |
| St5 |
A |
G |
7: 109,525,578 (GRCm38) |
F665L |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,615,681 (GRCm38) |
E272G |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,615,770 (GRCm38) |
G896W |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,360,766 (GRCm38) |
I229V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,919,546 (GRCm38) |
H3720Y |
probably benign |
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 |
|
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 |
|
R8535:Taf4b
|
UTSW |
18 |
14,822,138 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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'- ACTTGCTGGTCCAGGAGTAG -3'
(R):5'- TGGTACTCACTAGTTGCTTGAC -3'
Sequencing Primer
(F):5'- ACACTGGAGTTGTGACACTGC -3'
(R):5'- ACTCACTAGTTGCTTGACTTTGG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation