Incidental Mutation 'R0853:Taf1b'
ID |
82629 |
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 |
039032-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.958)
|
Stock # |
R0853 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24564827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 148
(L148P)
|
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: L148P
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000075339 Gene: ENSMUSG00000059669 AA Change: L148P
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 |
noncoding transcript
Transcript: ENSMUST00000223503
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.9%
|
Validation Efficiency |
93% (42/45) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amotl1 |
G |
T |
9: 14,504,074 (GRCm39) |
P378Q |
probably damaging |
Het |
Angpt4 |
A |
G |
2: 151,780,847 (GRCm39) |
E365G |
probably damaging |
Het |
Asb6 |
G |
A |
2: 30,717,042 (GRCm39) |
P61L |
possibly damaging |
Het |
Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
Atxn7 |
C |
A |
14: 14,089,465 (GRCm38) |
|
probably benign |
Het |
Cacul1 |
A |
T |
19: 60,522,664 (GRCm39) |
I290N |
probably damaging |
Het |
Ccser2 |
A |
C |
14: 36,662,367 (GRCm39) |
S272R |
probably benign |
Het |
Cfh |
T |
A |
1: 140,033,228 (GRCm39) |
H772L |
probably damaging |
Het |
Cldn6 |
T |
G |
17: 23,900,438 (GRCm39) |
I134S |
probably damaging |
Het |
Col3a1 |
T |
A |
1: 45,382,484 (GRCm39) |
|
probably benign |
Het |
Fam118a |
T |
C |
15: 84,932,726 (GRCm39) |
F156S |
possibly damaging |
Het |
Fgd4 |
T |
A |
16: 16,292,251 (GRCm39) |
|
probably benign |
Het |
Gckr |
G |
C |
5: 31,462,392 (GRCm39) |
A242P |
probably damaging |
Het |
Gcnt4 |
A |
G |
13: 97,083,343 (GRCm39) |
D213G |
probably damaging |
Het |
Hace1 |
T |
A |
10: 45,524,779 (GRCm39) |
V237E |
probably damaging |
Het |
Herc3 |
T |
C |
6: 58,853,549 (GRCm39) |
L570P |
probably damaging |
Het |
Hk1 |
T |
A |
10: 62,107,495 (GRCm39) |
K827* |
probably null |
Het |
Hyal6 |
T |
C |
6: 24,734,072 (GRCm39) |
F2L |
probably benign |
Het |
Jak2 |
C |
A |
19: 29,262,326 (GRCm39) |
Y382* |
probably null |
Het |
Kat8 |
C |
T |
7: 127,524,396 (GRCm39) |
H425Y |
probably benign |
Het |
Kcnj3 |
T |
C |
2: 55,327,235 (GRCm39) |
F8S |
possibly damaging |
Het |
Klk1 |
T |
A |
7: 43,870,922 (GRCm39) |
|
probably benign |
Het |
Klra8 |
T |
C |
6: 130,095,977 (GRCm39) |
Y205C |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,078,237 (GRCm39) |
E26G |
probably damaging |
Het |
Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
Nphp3 |
T |
C |
9: 103,909,132 (GRCm39) |
S781P |
probably benign |
Het |
Nqo2 |
A |
T |
13: 34,163,560 (GRCm39) |
H73L |
probably benign |
Het |
P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
Pah |
G |
A |
10: 87,412,080 (GRCm39) |
|
probably null |
Het |
Pcdhb4 |
T |
G |
18: 37,442,938 (GRCm39) |
Y749* |
probably null |
Het |
Pdgfrb |
C |
A |
18: 61,213,399 (GRCm39) |
N914K |
probably damaging |
Het |
Ralyl |
A |
G |
3: 14,011,566 (GRCm39) |
Y4C |
probably damaging |
Het |
Rapgef6 |
T |
A |
11: 54,559,503 (GRCm39) |
I1052N |
probably damaging |
Het |
Sdk2 |
G |
A |
11: 113,712,241 (GRCm39) |
T1642I |
probably benign |
Het |
Siglec1 |
G |
A |
2: 130,926,942 (GRCm39) |
T207M |
probably damaging |
Het |
Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
Tdp1 |
G |
A |
12: 99,901,326 (GRCm39) |
R536H |
probably damaging |
Het |
Tubgcp5 |
T |
A |
7: 55,464,599 (GRCm39) |
|
probably benign |
Het |
Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
Vmn1r58 |
G |
T |
7: 5,413,324 (GRCm39) |
T302K |
probably damaging |
Het |
Zfp1002 |
A |
T |
2: 150,097,398 (GRCm39) |
S38R |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCAGAAAGGACTCTCAGATGCAC -3'
(R):5'- CTGAATGCCGCCTATGGCAGTAATAA -3'
Sequencing Primer
(F):5'- TGCACTGACAAGCAGTAGC -3'
(R):5'- gccagagaggaaaccagatac -3'
|
Posted On |
2013-11-08 |