Incidental Mutation 'IGL00228:Taf1b'
ID |
2194 |
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 # |
IGL00228
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 24597066 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 335
(V335E)
|
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: V335E
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000075339 Gene: ENSMUSG00000059669 AA Change: V335E
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 |
Adamts6 |
G |
A |
13: 104,566,298 (GRCm39) |
G731D |
possibly damaging |
Het |
Adgre4 |
C |
T |
17: 56,109,135 (GRCm39) |
L381F |
probably damaging |
Het |
Baz2a |
A |
G |
10: 127,960,804 (GRCm39) |
T1538A |
probably benign |
Het |
C1qtnf6 |
T |
C |
15: 78,409,094 (GRCm39) |
Y251C |
probably damaging |
Het |
Cgn |
T |
C |
3: 94,672,855 (GRCm39) |
N941S |
probably benign |
Het |
Clca4b |
T |
C |
3: 144,638,152 (GRCm39) |
I37V |
probably benign |
Het |
Crtc1 |
T |
C |
8: 70,892,172 (GRCm39) |
K13E |
probably benign |
Het |
Cubn |
A |
G |
2: 13,461,508 (GRCm39) |
L673P |
probably damaging |
Het |
Cyp4f18 |
C |
T |
8: 72,743,771 (GRCm39) |
V395I |
probably damaging |
Het |
Def8 |
A |
G |
8: 124,186,389 (GRCm39) |
D400G |
possibly damaging |
Het |
Dvl1 |
A |
G |
4: 155,938,155 (GRCm39) |
D101G |
possibly damaging |
Het |
Fbxw20 |
T |
A |
9: 109,063,770 (GRCm39) |
M1L |
probably damaging |
Het |
Gad2 |
C |
T |
2: 22,575,398 (GRCm39) |
H501Y |
probably benign |
Het |
Herc3 |
C |
T |
6: 58,851,248 (GRCm39) |
P499L |
probably damaging |
Het |
Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
Kyat3 |
G |
A |
3: 142,432,018 (GRCm39) |
V249I |
probably damaging |
Het |
Med28 |
A |
G |
5: 45,680,812 (GRCm39) |
E92G |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,072,469 (GRCm39) |
L587* |
probably null |
Het |
Nup155 |
T |
C |
15: 8,150,939 (GRCm39) |
|
probably benign |
Het |
Nxf1 |
T |
C |
19: 8,740,106 (GRCm39) |
I91T |
possibly damaging |
Het |
Or8g50 |
T |
C |
9: 39,648,795 (GRCm39) |
I228T |
probably damaging |
Het |
Orc5 |
T |
A |
5: 22,728,537 (GRCm39) |
T305S |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,765,710 (GRCm39) |
|
probably null |
Het |
Rtca |
A |
G |
3: 116,298,110 (GRCm39) |
C100R |
probably damaging |
Het |
Septin14 |
G |
T |
5: 129,760,715 (GRCm39) |
H377N |
probably benign |
Het |
Shcbp1l |
A |
T |
1: 153,311,553 (GRCm39) |
N258I |
possibly damaging |
Het |
Shisa4 |
A |
C |
1: 135,301,023 (GRCm39) |
S82R |
probably damaging |
Het |
Slc38a10 |
C |
T |
11: 120,029,814 (GRCm39) |
V167M |
probably damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Spata18 |
G |
A |
5: 73,815,097 (GRCm39) |
E69K |
possibly damaging |
Het |
Srsf2 |
A |
C |
11: 116,743,096 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,517,216 (GRCm39) |
V1399I |
probably benign |
Het |
Topbp1 |
C |
T |
9: 103,222,142 (GRCm39) |
R1338C |
probably benign |
Het |
Ugt1a5 |
A |
G |
1: 88,094,162 (GRCm39) |
E130G |
probably benign |
Het |
Wdfy2 |
T |
A |
14: 63,181,526 (GRCm39) |
S219T |
probably damaging |
Het |
Zbtb38 |
C |
A |
9: 96,569,547 (GRCm39) |
R512S |
probably damaging |
Het |
Zfp574 |
T |
C |
7: 24,781,015 (GRCm39) |
V679A |
probably benign |
Het |
|
Other mutations in Taf1b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2011-12-09 |