Incidental Mutation 'R9239:Taf1b'
| ID |
700647 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.961)
|
| Stock # |
R9239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
24548580-24608570 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24606015 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 431
(L431H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075954]
[ENSMUST00000221372]
|
| AlphaFold |
P97358 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075954
AA Change: L431H
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075339
Gene: ENSMUSG00000059669
AA Change: L431H
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot8 |
A |
G |
2: 164,646,608 (GRCm39) |
|
probably null |
Het |
| Aldh1l2 |
A |
G |
10: 83,342,496 (GRCm39) |
F438S |
probably damaging |
Het |
| Alk |
T |
A |
17: 72,256,864 (GRCm39) |
N665I |
probably benign |
Het |
| Anxa4 |
T |
A |
6: 86,734,812 (GRCm39) |
T59S |
probably benign |
Het |
| B3gnt8 |
ACCCC |
ACCC |
7: 25,327,676 (GRCm39) |
|
probably null |
Het |
| Cabs1 |
G |
A |
5: 88,127,385 (GRCm39) |
R12Q |
probably benign |
Het |
| Cep152 |
A |
G |
2: 125,425,830 (GRCm39) |
V845A |
probably benign |
Het |
| Dipk1a |
T |
C |
5: 108,059,572 (GRCm39) |
E127G |
possibly damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,750 (GRCm39) |
V941E |
probably damaging |
Het |
| Fbxo11 |
G |
T |
17: 88,316,522 (GRCm39) |
H284N |
|
Het |
| Fubp1 |
A |
G |
3: 151,923,486 (GRCm39) |
E98G |
probably damaging |
Het |
| Fyco1 |
A |
G |
9: 123,626,637 (GRCm39) |
I1358T |
probably damaging |
Het |
| Ginm1 |
T |
C |
10: 7,649,825 (GRCm39) |
N156S |
possibly damaging |
Het |
| Gm3739 |
T |
C |
14: 18,505,221 (GRCm39) |
Y101C |
probably damaging |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Itgb4 |
T |
C |
11: 115,898,130 (GRCm39) |
V1644A |
probably damaging |
Het |
| Itpka |
A |
G |
2: 119,580,023 (GRCm39) |
D254G |
probably damaging |
Het |
| Kat7 |
T |
A |
11: 95,197,020 (GRCm39) |
R6S |
probably benign |
Het |
| Klhl40 |
A |
T |
9: 121,607,637 (GRCm39) |
T266S |
probably benign |
Het |
| Lratd1 |
A |
G |
12: 14,200,185 (GRCm39) |
W181R |
probably damaging |
Het |
| Mmaa |
T |
C |
8: 79,995,856 (GRCm39) |
D289G |
probably damaging |
Het |
| Muc5ac |
A |
T |
7: 141,353,954 (GRCm39) |
D851V |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,346 (GRCm39) |
V269A |
probably benign |
Het |
| Or52n4 |
G |
T |
7: 104,293,746 (GRCm39) |
H278N |
probably damaging |
Het |
| Or6b3 |
T |
C |
1: 92,439,454 (GRCm39) |
T99A |
probably benign |
Het |
| Pcdh17 |
T |
G |
14: 84,770,649 (GRCm39) |
I1042M |
probably benign |
Het |
| Pipox |
A |
G |
11: 77,774,765 (GRCm39) |
I106T |
probably benign |
Het |
| Ppcs |
C |
T |
4: 119,276,235 (GRCm39) |
V290M |
possibly damaging |
Het |
| Rnasel |
T |
A |
1: 153,630,097 (GRCm39) |
N204K |
probably damaging |
Het |
| Runx1 |
A |
G |
16: 92,402,935 (GRCm39) |
Y336H |
probably damaging |
Het |
| Sell |
A |
G |
1: 163,893,176 (GRCm39) |
I131V |
possibly damaging |
Het |
| Serpina3f |
A |
G |
12: 104,184,710 (GRCm39) |
R285G |
possibly damaging |
Het |
| Slc25a2 |
A |
T |
18: 37,771,169 (GRCm39) |
M120K |
possibly damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,250,344 (GRCm39) |
|
probably null |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Spats2l |
A |
G |
1: 57,871,257 (GRCm39) |
|
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,871 (GRCm39) |
V289E |
probably benign |
Het |
| Tectb |
CT |
C |
19: 55,181,094 (GRCm39) |
|
probably null |
Het |
| Thsd7b |
G |
A |
1: 130,087,453 (GRCm39) |
|
probably null |
Het |
| Tmtc4 |
A |
G |
14: 123,165,078 (GRCm39) |
Y594H |
possibly damaging |
Het |
| Trim33 |
T |
C |
3: 103,237,453 (GRCm39) |
F599L |
probably benign |
Het |
| Vcl |
A |
G |
14: 21,072,092 (GRCm39) |
D819G |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn2r1 |
G |
T |
3: 64,011,959 (GRCm39) |
V607L |
probably 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 |
|
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 |
|
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'- AAAGGGTCCTTGACTCCTAGG -3'
(R):5'- TGTGACTTCCCCTTTGGCAG -3'
Sequencing Primer
(F):5'- TCCTTGACTCCTAGGAGGGG -3'
(R):5'- GGAGATATACTCGAGAGCATCCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation