Incidental Mutation 'R1023:Taf1b'
ID |
94657 |
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 |
039125-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R1023 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
G to T
at 24559558 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152862
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075954]
[ENSMUST00000221372]
[ENSMUST00000222710]
|
AlphaFold |
P97358 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075954
|
SMART Domains |
Protein: ENSMUSP00000075339 Gene: ENSMUSG00000059669
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 |
noncoding transcript
Transcript: ENSMUST00000220562
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221372
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000222710
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223503
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.7%
|
Validation Efficiency |
100% (42/42) |
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 |
1110002E22Rik |
C |
T |
3: 137,772,632 (GRCm39) |
A607V |
probably damaging |
Het |
4930523C07Rik |
A |
G |
1: 159,905,057 (GRCm39) |
|
probably benign |
Het |
Ap3d1 |
A |
T |
10: 80,550,092 (GRCm39) |
L713Q |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,957,676 (GRCm39) |
T1010A |
possibly damaging |
Het |
Cdh15 |
T |
C |
8: 123,591,939 (GRCm39) |
I608T |
probably damaging |
Het |
Cdkl2 |
A |
T |
5: 92,187,145 (GRCm39) |
D40E |
possibly damaging |
Het |
Col9a2 |
G |
A |
4: 120,901,207 (GRCm39) |
G118R |
unknown |
Het |
Cryge |
C |
A |
1: 65,089,945 (GRCm39) |
C79F |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,878,799 (GRCm39) |
L596P |
probably damaging |
Het |
Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
Dync2i1 |
T |
C |
12: 116,196,277 (GRCm39) |
E490G |
probably damaging |
Het |
Enam |
A |
G |
5: 88,649,826 (GRCm39) |
Q445R |
probably damaging |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gnpat |
A |
T |
8: 125,597,519 (GRCm39) |
D27V |
probably benign |
Het |
Htr5a |
A |
T |
5: 28,047,996 (GRCm39) |
T184S |
possibly damaging |
Het |
Lap3 |
C |
T |
5: 45,652,553 (GRCm39) |
P50S |
probably benign |
Het |
Mamdc2 |
A |
T |
19: 23,288,271 (GRCm39) |
M589K |
probably damaging |
Het |
Mast4 |
A |
G |
13: 102,872,004 (GRCm39) |
S2263P |
probably benign |
Het |
Mef2b |
C |
T |
8: 70,618,247 (GRCm39) |
P109L |
possibly damaging |
Het |
Meltf |
T |
A |
16: 31,703,778 (GRCm39) |
F168L |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Nup205 |
T |
A |
6: 35,211,641 (GRCm39) |
F1661I |
probably damaging |
Het |
Or11h4b |
A |
T |
14: 50,918,473 (GRCm39) |
L206H |
probably damaging |
Het |
Or5h19 |
A |
T |
16: 58,856,178 (GRCm39) |
N307K |
probably benign |
Het |
Plac8 |
A |
T |
5: 100,704,447 (GRCm39) |
D83E |
probably benign |
Het |
Pnpt1 |
T |
C |
11: 29,091,328 (GRCm39) |
|
probably benign |
Het |
Pold2 |
G |
T |
11: 5,825,140 (GRCm39) |
Q86K |
probably benign |
Het |
Ptprt |
A |
G |
2: 161,400,863 (GRCm39) |
L1057P |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,708,635 (GRCm39) |
H2284R |
probably damaging |
Het |
Scart1 |
T |
A |
7: 139,804,376 (GRCm39) |
C484S |
possibly damaging |
Het |
Skint6 |
A |
C |
4: 113,095,300 (GRCm39) |
S120A |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,864,770 (GRCm39) |
V270M |
probably damaging |
Het |
Spata2 |
A |
G |
2: 167,327,142 (GRCm39) |
M85T |
probably benign |
Het |
Tert |
A |
G |
13: 73,790,178 (GRCm39) |
N844S |
probably benign |
Het |
Thrap3 |
G |
A |
4: 126,073,882 (GRCm39) |
S288L |
possibly damaging |
Het |
Ubap2l |
A |
G |
3: 89,955,180 (GRCm39) |
|
probably benign |
Het |
Ubtf |
T |
C |
11: 102,202,276 (GRCm39) |
E197G |
possibly damaging |
Het |
Usp20 |
G |
T |
2: 30,897,825 (GRCm39) |
G216W |
probably damaging |
Het |
Yy1 |
T |
A |
12: 108,759,457 (GRCm39) |
V40E |
unknown |
Het |
Zfp335 |
G |
A |
2: 164,734,505 (GRCm39) |
H1254Y |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGTGCCTGTGTGGATGTCACC -3'
(R):5'- TGACCCCAATGCTGCAAAACAAGTAA -3'
Sequencing Primer
(F):5'- TGTGGATGTCACCATCACTTG -3'
(R):5'- gccttgatgataatggactgaac -3'
|
Posted On |
2014-01-05 |