Incidental Mutation 'R6529:Taf1b'
ID |
522217 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Taf1b
|
Ensembl Gene |
ENSMUSG00000059669 |
Gene Name |
TATA-box binding protein associated factor, RNA polymerase I, B |
Synonyms |
4930408G01Rik, p63, A230108M10Rik, mTAFI68 |
MMRRC Submission |
044655-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.961)
|
Stock # |
R6529 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24606650 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 490
(H490L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075954]
[ENSMUST00000221372]
|
AlphaFold |
P97358 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075954
AA Change: H490L
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000075339 Gene: ENSMUSG00000059669 AA Change: H490L
Domain | Start | End | E-Value | Type |
Pfam:RRN7
|
3 |
39 |
7.3e-15 |
PFAM |
low complexity region
|
141 |
153 |
N/A |
INTRINSIC |
low complexity region
|
361 |
374 |
N/A |
INTRINSIC |
low complexity region
|
411 |
425 |
N/A |
INTRINSIC |
low complexity region
|
574 |
583 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221372
|
Meta Mutation Damage Score |
0.2384 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.6%
|
Validation Efficiency |
98% (41/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
A |
T |
7: 78,739,479 (GRCm39) |
M296L |
probably benign |
Het |
Atxn2 |
T |
C |
5: 121,949,677 (GRCm39) |
|
probably null |
Het |
B3galnt2 |
G |
T |
13: 14,170,377 (GRCm39) |
R242S |
probably benign |
Het |
Bltp3a |
A |
G |
17: 28,098,750 (GRCm39) |
I218M |
possibly damaging |
Het |
Casz1 |
G |
A |
4: 149,022,646 (GRCm39) |
E571K |
probably damaging |
Het |
Ccdc163 |
A |
G |
4: 116,566,121 (GRCm39) |
|
probably null |
Het |
Cd109 |
A |
G |
9: 78,619,907 (GRCm39) |
D1383G |
probably damaging |
Het |
Cd200r1 |
A |
G |
16: 44,610,065 (GRCm39) |
T95A |
possibly damaging |
Het |
Chd2 |
T |
C |
7: 73,153,191 (GRCm39) |
E219G |
possibly damaging |
Het |
Cibar1 |
A |
G |
4: 12,168,978 (GRCm39) |
V175A |
probably damaging |
Het |
Dnah14 |
T |
A |
1: 181,494,034 (GRCm39) |
V1730D |
probably damaging |
Het |
Eps8 |
G |
A |
6: 137,491,335 (GRCm39) |
H348Y |
possibly damaging |
Het |
Fbxo2 |
A |
T |
4: 148,249,511 (GRCm39) |
D187V |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,812,657 (GRCm39) |
Y2992F |
probably benign |
Het |
Gle1 |
A |
T |
2: 29,825,539 (GRCm39) |
T10S |
possibly damaging |
Het |
Got2 |
T |
C |
8: 96,615,013 (GRCm39) |
|
probably benign |
Het |
Gtf3c6 |
T |
C |
10: 40,127,251 (GRCm39) |
T34A |
probably benign |
Het |
H4c11 |
G |
T |
13: 21,919,476 (GRCm39) |
V71F |
possibly damaging |
Het |
Klf15 |
C |
T |
6: 90,444,394 (GRCm39) |
T323I |
probably damaging |
Het |
Krtap5-3 |
C |
A |
7: 141,756,079 (GRCm39) |
C305* |
probably null |
Het |
Map2k6 |
A |
T |
11: 110,383,388 (GRCm39) |
D99V |
probably damaging |
Het |
Nckap5l |
G |
T |
15: 99,324,475 (GRCm39) |
P676Q |
probably benign |
Het |
Nup188 |
A |
T |
2: 30,216,466 (GRCm39) |
T757S |
possibly damaging |
Het |
Or10ak13 |
C |
T |
4: 118,638,907 (GRCm39) |
V292I |
probably benign |
Het |
Or51q1c |
T |
C |
7: 103,653,133 (GRCm39) |
V217A |
probably benign |
Het |
Peg3 |
C |
A |
7: 6,711,071 (GRCm39) |
A1384S |
probably damaging |
Het |
Plekho2 |
C |
T |
9: 65,480,383 (GRCm39) |
R14H |
probably benign |
Het |
Qsox2 |
A |
T |
2: 26,107,753 (GRCm39) |
C247S |
probably damaging |
Het |
Slc25a13 |
A |
G |
6: 6,073,451 (GRCm39) |
V469A |
probably benign |
Het |
Slitrk3 |
T |
C |
3: 72,958,551 (GRCm39) |
T74A |
probably benign |
Het |
Spmip7 |
T |
C |
11: 11,465,009 (GRCm39) |
F120S |
possibly damaging |
Het |
Sult1a1 |
T |
C |
7: 126,274,310 (GRCm39) |
T91A |
probably benign |
Het |
Sult3a2 |
T |
C |
10: 33,655,733 (GRCm39) |
Y82C |
probably damaging |
Het |
Trrap |
T |
A |
5: 144,771,014 (GRCm39) |
H2804Q |
probably benign |
Het |
Usp8 |
A |
G |
2: 126,567,298 (GRCm39) |
I106V |
probably benign |
Het |
Wdcp |
T |
A |
12: 4,901,143 (GRCm39) |
V333D |
probably damaging |
Het |
Wdr46 |
T |
A |
17: 34,168,120 (GRCm39) |
L564Q |
possibly damaging |
Het |
Wrn |
T |
C |
8: 33,826,004 (GRCm39) |
|
probably null |
Het |
Zfp664 |
C |
T |
5: 124,963,352 (GRCm39) |
H249Y |
probably damaging |
Het |
Zfp975 |
A |
C |
7: 42,311,325 (GRCm39) |
H429Q |
possibly damaging |
Het |
|
Other mutations in Taf1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00228:Taf1b
|
APN |
12 |
24,597,066 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01460:Taf1b
|
APN |
12 |
24,608,245 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02100:Taf1b
|
APN |
12 |
24,594,394 (GRCm39) |
missense |
possibly damaging |
0.96 |
IGL02305:Taf1b
|
APN |
12 |
24,594,270 (GRCm39) |
missense |
possibly damaging |
0.73 |
IGL02729:Taf1b
|
APN |
12 |
24,597,624 (GRCm39) |
splice site |
probably benign |
|
PIT4283001:Taf1b
|
UTSW |
12 |
24,597,594 (GRCm39) |
missense |
possibly damaging |
0.86 |
PIT4519001:Taf1b
|
UTSW |
12 |
24,597,118 (GRCm39) |
nonsense |
probably null |
|
R0350:Taf1b
|
UTSW |
12 |
24,564,884 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0853:Taf1b
|
UTSW |
12 |
24,564,827 (GRCm39) |
missense |
probably benign |
0.06 |
R1023:Taf1b
|
UTSW |
12 |
24,559,558 (GRCm39) |
utr 3 prime |
probably benign |
|
R1604:Taf1b
|
UTSW |
12 |
24,606,623 (GRCm39) |
missense |
probably benign |
|
R1702:Taf1b
|
UTSW |
12 |
24,559,125 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1743:Taf1b
|
UTSW |
12 |
24,597,177 (GRCm39) |
missense |
possibly damaging |
0.85 |
R1817:Taf1b
|
UTSW |
12 |
24,597,121 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1873:Taf1b
|
UTSW |
12 |
24,606,668 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4595:Taf1b
|
UTSW |
12 |
24,550,441 (GRCm39) |
missense |
possibly damaging |
0.85 |
R5280:Taf1b
|
UTSW |
12 |
24,599,437 (GRCm39) |
missense |
probably benign |
0.18 |
R5838:Taf1b
|
UTSW |
12 |
24,550,448 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5849:Taf1b
|
UTSW |
12 |
24,550,524 (GRCm39) |
missense |
probably damaging |
1.00 |
R6368:Taf1b
|
UTSW |
12 |
24,608,256 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6589:Taf1b
|
UTSW |
12 |
24,606,527 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6879:Taf1b
|
UTSW |
12 |
24,550,516 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7342:Taf1b
|
UTSW |
12 |
24,608,343 (GRCm39) |
nonsense |
probably null |
|
R7449:Taf1b
|
UTSW |
12 |
24,554,992 (GRCm39) |
missense |
probably benign |
0.33 |
R8912:Taf1b
|
UTSW |
12 |
24,566,860 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9239:Taf1b
|
UTSW |
12 |
24,606,015 (GRCm39) |
missense |
probably damaging |
1.00 |
R9337:Taf1b
|
UTSW |
12 |
24,597,121 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9510:Taf1b
|
UTSW |
12 |
24,566,947 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9780:Taf1b
|
UTSW |
12 |
24,564,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGTTAGGAAACCAGCTG -3'
(R):5'- AAGAGAAAGGACCTCTTCAGC -3'
Sequencing Primer
(F):5'- AGCAATCCATTCCCGTGACTG -3'
(R):5'- AAAGGACCTCTTCAGCCTGAGTTG -3'
|
Posted On |
2018-06-06 |