Incidental Mutation 'IGL01460:Taf1b'
| ID |
87970 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taf1b
|
| Ensembl Gene |
ENSMUSG00000059669 |
| Gene Name |
TATA-box binding protein associated factor, RNA polymerase I, B |
| Synonyms |
4930408G01Rik, p63, A230108M10Rik, mTAFI68 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
IGL01460
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24608245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 548
(L548P)
|
| 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: L548P
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: L548P
| 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
|
| Coding Region Coverage |
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,397,594 (GRCm39) |
V2608A |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,055,856 (GRCm39) |
K1250R |
probably benign |
Het |
| Ctsm |
T |
C |
13: 61,686,850 (GRCm39) |
Q14R |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,178,864 (GRCm39) |
N846D |
possibly damaging |
Het |
| Erbb2 |
C |
T |
11: 98,325,365 (GRCm39) |
R898C |
probably damaging |
Het |
| Itgb3 |
C |
T |
11: 104,553,220 (GRCm39) |
Q693* |
probably null |
Het |
| Kcnk18 |
G |
A |
19: 59,208,289 (GRCm39) |
V42M |
probably damaging |
Het |
| Kng1 |
A |
G |
16: 22,897,944 (GRCm39) |
H448R |
probably benign |
Het |
| Mtf2 |
C |
T |
5: 108,228,809 (GRCm39) |
P42S |
probably damaging |
Het |
| Myo10 |
A |
T |
15: 25,714,194 (GRCm39) |
E120V |
probably benign |
Het |
| Or12k5 |
A |
C |
2: 36,894,648 (GRCm39) |
M326R |
probably benign |
Het |
| Or9a2 |
A |
C |
6: 41,749,216 (GRCm39) |
S6A |
probably benign |
Het |
| Peli1 |
C |
T |
11: 21,096,966 (GRCm39) |
P119S |
probably benign |
Het |
| Pelp1 |
A |
G |
11: 70,284,790 (GRCm39) |
V1026A |
unknown |
Het |
| Pi4ka |
A |
G |
16: 17,175,515 (GRCm39) |
F438L |
probably damaging |
Het |
| Postn |
A |
G |
3: 54,282,579 (GRCm39) |
|
probably benign |
Het |
| Tbc1d7 |
C |
T |
13: 43,318,835 (GRCm39) |
A101T |
probably benign |
Het |
| Vcp |
C |
A |
4: 42,996,040 (GRCm39) |
R53L |
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 |
|
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 |
|
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 |
|
| Posted On |
2013-11-18 |
Incidental Mutation