Incidental Mutation 'IGL02729:Taf1b'
| ID |
305390 |
| 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 # |
IGL02729
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 24597624 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075954]
[ENSMUST00000221372]
|
| 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 |
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 |
|---|
| Abca17 |
T |
C |
17: 24,499,455 (GRCm39) |
E1358G |
probably benign |
Het |
| Alpk1 |
T |
A |
3: 127,474,721 (GRCm39) |
L427F |
possibly damaging |
Het |
| Atat1 |
T |
C |
17: 36,209,283 (GRCm39) |
T326A |
probably benign |
Het |
| Calcr |
T |
A |
6: 3,707,595 (GRCm39) |
H235L |
probably benign |
Het |
| Cdc16 |
A |
G |
8: 13,829,250 (GRCm39) |
D512G |
possibly damaging |
Het |
| Cilp |
G |
A |
9: 65,185,372 (GRCm39) |
R489Q |
possibly damaging |
Het |
| Ddx4 |
C |
T |
13: 112,787,946 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
T |
C |
17: 57,373,637 (GRCm39) |
D612G |
probably benign |
Het |
| Hyal6 |
A |
C |
6: 24,734,694 (GRCm39) |
Y209S |
probably damaging |
Het |
| Irf4 |
T |
C |
13: 30,937,574 (GRCm39) |
|
probably null |
Het |
| Itgae |
T |
C |
11: 73,009,029 (GRCm39) |
|
probably benign |
Het |
| L3mbtl4 |
C |
T |
17: 68,791,738 (GRCm39) |
T272I |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,848,924 (GRCm39) |
I2037T |
possibly damaging |
Het |
| Lyst |
C |
A |
13: 13,921,194 (GRCm39) |
P3380Q |
possibly damaging |
Het |
| Mgat4b |
A |
G |
11: 50,124,136 (GRCm39) |
I359V |
probably benign |
Het |
| Mybl1 |
A |
T |
1: 9,742,795 (GRCm39) |
D604E |
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,467,609 (GRCm39) |
S745C |
probably damaging |
Het |
| Or13c7 |
C |
A |
4: 43,854,439 (GRCm39) |
N43K |
probably damaging |
Het |
| Or1ad8 |
T |
C |
11: 50,897,892 (GRCm39) |
F31S |
probably damaging |
Het |
| Or6c212 |
T |
G |
10: 129,559,390 (GRCm39) |
I8L |
probably benign |
Het |
| Pced1a |
A |
T |
2: 130,263,823 (GRCm39) |
H276Q |
probably benign |
Het |
| Pdx1 |
C |
A |
5: 147,211,424 (GRCm39) |
P215Q |
probably benign |
Het |
| Pdzd7 |
T |
C |
19: 45,034,082 (GRCm39) |
M1V |
probably null |
Het |
| Prrc2b |
T |
A |
2: 32,098,770 (GRCm39) |
M621K |
probably damaging |
Het |
| Ptprh |
T |
G |
7: 4,583,873 (GRCm39) |
N240H |
probably damaging |
Het |
| Rsph1 |
T |
A |
17: 31,492,293 (GRCm39) |
E91V |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,129,994 (GRCm39) |
C1274R |
probably damaging |
Het |
| Skic2 |
G |
A |
17: 35,058,581 (GRCm39) |
P1179S |
possibly damaging |
Het |
| Skint7 |
C |
A |
4: 111,839,367 (GRCm39) |
F220L |
probably benign |
Het |
| Slit1 |
T |
A |
19: 41,591,773 (GRCm39) |
Y1283F |
probably damaging |
Het |
| Tars3 |
C |
T |
7: 65,332,567 (GRCm39) |
T556M |
probably damaging |
Het |
| Utrn |
A |
G |
10: 12,596,554 (GRCm39) |
|
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,435 (GRCm39) |
E375G |
probably benign |
Het |
| Zfp276 |
T |
C |
8: 123,994,555 (GRCm39) |
Y541H |
probably damaging |
Het |
| Zfp40 |
C |
T |
17: 23,397,285 (GRCm39) |
V3I |
probably damaging |
Het |
| Zfp536 |
T |
A |
7: 37,193,143 (GRCm39) |
H766L |
probably damaging |
Het |
| Zfyve21 |
A |
G |
12: 111,791,485 (GRCm39) |
I157V |
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 |
|
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 |
Incidental Mutation