Incidental Mutation 'R5280:Taf1b'
ID |
404170 |
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 |
042840-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R5280 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 24599437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 398
(F398L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075339
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075954]
[ENSMUST00000221372]
|
AlphaFold |
P97358 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075954
AA Change: F398L
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000075339 Gene: ENSMUSG00000059669 AA Change: F398L
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223503
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf5 |
C |
T |
17: 43,737,225 (GRCm39) |
T218I |
probably damaging |
Het |
Adgrv1 |
C |
A |
13: 81,545,584 (GRCm39) |
S5567I |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,474,813 (GRCm39) |
T397A |
probably benign |
Het |
Atp9a |
T |
A |
2: 168,481,908 (GRCm39) |
Y880F |
possibly damaging |
Het |
Celsr1 |
T |
C |
15: 85,814,747 (GRCm39) |
T1905A |
probably benign |
Het |
Chd8 |
G |
A |
14: 52,442,582 (GRCm39) |
A656V |
possibly damaging |
Het |
Dffa |
A |
G |
4: 149,202,391 (GRCm39) |
N265S |
probably benign |
Het |
Frrs1 |
A |
G |
3: 116,674,545 (GRCm39) |
D109G |
probably benign |
Het |
Gm20821 |
A |
T |
Y: 9,783,963 (GRCm39) |
K195M |
probably damaging |
Het |
Ifi207 |
A |
T |
1: 173,557,870 (GRCm39) |
N289K |
unknown |
Het |
Kank1 |
T |
C |
19: 25,388,669 (GRCm39) |
F781L |
probably benign |
Het |
Lrba |
A |
T |
3: 86,232,329 (GRCm39) |
M759L |
possibly damaging |
Het |
Lrp8 |
A |
G |
4: 107,711,518 (GRCm39) |
Y307C |
probably damaging |
Het |
Neb |
T |
C |
2: 52,037,168 (GRCm39) |
H6847R |
probably damaging |
Het |
Or2ag19 |
G |
A |
7: 106,443,902 (GRCm39) |
C28Y |
probably benign |
Het |
Or52ab4 |
T |
C |
7: 102,987,708 (GRCm39) |
V149A |
probably benign |
Het |
Pcdha5 |
C |
A |
18: 37,094,755 (GRCm39) |
Y421* |
probably null |
Het |
Pclo |
T |
A |
5: 14,590,731 (GRCm39) |
D1010E |
unknown |
Het |
Pld2 |
A |
T |
11: 70,443,585 (GRCm39) |
D449V |
probably damaging |
Het |
Ppfia1 |
C |
A |
7: 144,038,832 (GRCm39) |
M1032I |
possibly damaging |
Het |
Prickle2 |
C |
A |
6: 92,353,191 (GRCm39) |
L758F |
probably damaging |
Het |
Sarm1 |
A |
G |
11: 78,374,302 (GRCm39) |
V564A |
probably damaging |
Het |
Tll2 |
A |
G |
19: 41,105,696 (GRCm39) |
I361T |
possibly damaging |
Het |
Tmem260 |
T |
C |
14: 48,742,716 (GRCm39) |
V517A |
probably benign |
Het |
Usp24 |
A |
G |
4: 106,198,411 (GRCm39) |
K106E |
probably benign |
Het |
Vcan |
C |
A |
13: 89,838,405 (GRCm39) |
V2380F |
probably benign |
Het |
Vmn2r65 |
A |
G |
7: 84,595,542 (GRCm39) |
S381P |
probably damaging |
Het |
Vmn2r73 |
T |
C |
7: 85,507,155 (GRCm39) |
D719G |
probably damaging |
Het |
Wdr5b |
T |
C |
16: 35,862,202 (GRCm39) |
V107A |
probably benign |
Het |
Wdr7 |
G |
T |
18: 64,120,383 (GRCm39) |
V1475F |
probably benign |
Het |
Ythdc2 |
A |
G |
18: 44,993,688 (GRCm39) |
D911G |
probably damaging |
Het |
Zbtb32 |
T |
A |
7: 30,289,629 (GRCm39) |
E11V |
probably damaging |
Het |
Zfp563 |
T |
G |
17: 33,323,812 (GRCm39) |
Y136D |
probably 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 |
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 |
R6529:Taf1b
|
UTSW |
12 |
24,606,650 (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'- ACATTGTCGCGCCTTACAG -3'
(R):5'- ATGAGGTCCTGAGCTGGAATC -3'
Sequencing Primer
(F):5'- TCGCGCCTTACAGCAGAGAG -3'
(R):5'- ACTAGAATGTACAGGACCAACATTTC -3'
|
Posted On |
2016-07-22 |