Incidental Mutation 'IGL02305:Taf1b'
ID |
287550 |
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 # |
IGL02305
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24594270 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 268
(S268P)
|
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: S268P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000075339 Gene: ENSMUSG00000059669 AA Change: S268P
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 |
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,921,048 (GRCm39) |
T599I |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,846,796 (GRCm39) |
T409A |
probably benign |
Het |
Apol10b |
T |
A |
15: 77,469,630 (GRCm39) |
R182S |
possibly damaging |
Het |
Arhgap35 |
A |
G |
7: 16,297,590 (GRCm39) |
F492L |
probably benign |
Het |
Ccdc136 |
A |
G |
6: 29,406,173 (GRCm39) |
D173G |
probably damaging |
Het |
Ccndbp1 |
T |
C |
2: 120,841,933 (GRCm39) |
L67P |
probably damaging |
Het |
Dync2h1 |
C |
T |
9: 7,122,678 (GRCm39) |
V2093I |
probably benign |
Het |
Eps15l1 |
T |
C |
8: 73,140,853 (GRCm39) |
K213R |
probably null |
Het |
Fat4 |
A |
T |
3: 39,064,137 (GRCm39) |
N4698Y |
probably damaging |
Het |
Frmpd1 |
G |
T |
4: 45,249,209 (GRCm39) |
R133L |
probably damaging |
Het |
Gdi2 |
T |
A |
13: 3,606,428 (GRCm39) |
M158K |
probably damaging |
Het |
Hoxc8 |
A |
G |
15: 102,901,025 (GRCm39) |
Y156C |
probably damaging |
Het |
Iho1 |
A |
T |
9: 108,283,031 (GRCm39) |
M219K |
possibly damaging |
Het |
Kcnh2 |
T |
C |
5: 24,527,658 (GRCm39) |
D898G |
possibly damaging |
Het |
Kng2 |
T |
C |
16: 22,819,374 (GRCm39) |
|
probably benign |
Het |
Men1 |
T |
C |
19: 6,390,168 (GRCm39) |
L566P |
probably damaging |
Het |
Mtmr2 |
T |
C |
9: 13,706,551 (GRCm39) |
W153R |
probably damaging |
Het |
Mug2 |
T |
G |
6: 122,013,015 (GRCm39) |
L309R |
probably benign |
Het |
Myo7a |
A |
G |
7: 97,700,836 (GRCm39) |
*2165R |
probably null |
Het |
Ogfod2 |
T |
C |
5: 124,250,910 (GRCm39) |
|
probably null |
Het |
Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
Or8g20 |
A |
T |
9: 39,396,333 (GRCm39) |
I72N |
probably damaging |
Het |
Pard6g |
T |
C |
18: 80,160,985 (GRCm39) |
L366P |
probably damaging |
Het |
Pdlim4 |
A |
T |
11: 53,946,759 (GRCm39) |
L117H |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,852,467 (GRCm39) |
A672V |
probably benign |
Het |
Pomt2 |
A |
G |
12: 87,164,703 (GRCm39) |
|
probably benign |
Het |
Prpf4 |
T |
A |
4: 62,333,633 (GRCm39) |
|
probably benign |
Het |
Rad17 |
C |
T |
13: 100,770,370 (GRCm39) |
|
probably null |
Het |
Ryr3 |
T |
A |
2: 112,475,622 (GRCm39) |
I4499F |
probably damaging |
Het |
Sav1 |
A |
G |
12: 70,033,550 (GRCm39) |
|
probably benign |
Het |
Scube1 |
A |
T |
15: 83,491,591 (GRCm39) |
F887I |
probably damaging |
Het |
Slc5a6 |
T |
C |
5: 31,195,179 (GRCm39) |
S473G |
probably benign |
Het |
Tmem135 |
A |
T |
7: 88,814,331 (GRCm39) |
|
probably null |
Het |
Vmn2r104 |
A |
T |
17: 20,263,118 (GRCm39) |
N114K |
probably benign |
Het |
Ypel5 |
A |
T |
17: 73,155,591 (GRCm39) |
Y53F |
probably benign |
Het |
Zfp438 |
A |
G |
18: 5,213,674 (GRCm39) |
V428A |
possibly damaging |
Het |
Zzef1 |
T |
C |
11: 72,757,423 (GRCm39) |
|
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 |
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 |
2015-04-16 |