Incidental Mutation 'R8382:Taf1c'
| ID |
646983 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf1c
|
| Ensembl Gene |
ENSMUSG00000031832 |
| Gene Name |
TATA-box binding protein associated factor, RNA polymerase I, C |
| Synonyms |
mTAFI95 |
| MMRRC Submission |
067896-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R8382 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
120324713-120331945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 120329789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 117
(D117E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093099]
[ENSMUST00000093100]
[ENSMUST00000147964]
|
| AlphaFold |
Q6PDZ2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093099
AA Change: D117E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: D117E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
79 |
N/A |
INTRINSIC |
|
SCOP:d1k32a3
|
253 |
389 |
2e-3 |
SMART |
|
Blast:WD40
|
301 |
340 |
2e-15 |
BLAST |
|
low complexity region
|
457 |
472 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
490 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
732 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093100
|
| SMART Domains |
Protein: ENSMUSP00000090790
Gene: ENSMUSG00000031831
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_9
|
115 |
298 |
5.7e-10 |
PFAM |
|
low complexity region
|
322 |
332 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
501 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147964
AA Change: D117E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832
AA Change: D117E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
79 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.6%
|
| Validation Efficiency |
94% (33/35) |
| 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 the largest SL1-specific TAF. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,537,645 (GRCm39) |
R689G |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,016,277 (GRCm39) |
|
probably null |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Cacna1i |
G |
A |
15: 80,261,017 (GRCm39) |
V1342M |
probably damaging |
Het |
| Cblif |
A |
T |
19: 11,727,090 (GRCm39) |
T100S |
probably benign |
Het |
| Ccdc87 |
A |
G |
19: 4,890,018 (GRCm39) |
D170G |
possibly damaging |
Het |
| Cpsf1 |
A |
G |
15: 76,485,151 (GRCm39) |
V541A |
probably benign |
Het |
| Depdc5 |
C |
T |
5: 33,085,242 (GRCm39) |
T687M |
probably benign |
Het |
| Ear6 |
T |
C |
14: 52,091,570 (GRCm39) |
I39T |
probably damaging |
Het |
| Fcgbp |
C |
T |
7: 27,816,762 (GRCm39) |
A2408V |
probably benign |
Het |
| Frmd4b |
G |
A |
6: 97,282,209 (GRCm39) |
T539I |
probably benign |
Het |
| Gm19410 |
T |
A |
8: 36,276,302 (GRCm39) |
V1653D |
probably damaging |
Het |
| Jade1 |
A |
G |
3: 41,519,369 (GRCm39) |
|
probably null |
Het |
| Kncn |
A |
G |
4: 115,743,947 (GRCm39) |
N75S |
probably benign |
Het |
| Lig4 |
C |
T |
8: 10,022,346 (GRCm39) |
G478D |
probably damaging |
Het |
| Med24 |
G |
A |
11: 98,608,537 (GRCm39) |
T205I |
unknown |
Het |
| Meiob |
A |
G |
17: 25,046,913 (GRCm39) |
E179G |
possibly damaging |
Het |
| Nalf1 |
T |
C |
8: 9,257,972 (GRCm39) |
E392G |
probably benign |
Het |
| Or10d5 |
A |
G |
9: 39,861,455 (GRCm39) |
V204A |
probably benign |
Het |
| Or4a27 |
A |
T |
2: 88,559,857 (GRCm39) |
F29I |
probably damaging |
Het |
| Or8b44 |
A |
T |
9: 38,410,588 (GRCm39) |
I208F |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,479,227 (GRCm39) |
V708A |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,727,080 (GRCm39) |
D1979E |
unknown |
Het |
| Plxnd1 |
A |
T |
6: 115,949,433 (GRCm39) |
H784Q |
probably benign |
Het |
| Prim1 |
A |
T |
10: 127,856,138 (GRCm39) |
|
probably null |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Slc7a5 |
A |
T |
8: 122,612,691 (GRCm39) |
I371N |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,224,671 (GRCm39) |
S288L |
possibly damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,401,474 (GRCm39) |
K284R |
possibly damaging |
Het |
| Tekt5 |
T |
C |
16: 10,212,928 (GRCm39) |
D119G |
probably benign |
Het |
| Top3b |
T |
C |
16: 16,705,867 (GRCm39) |
I508T |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,279,196 (GRCm39) |
I673T |
probably benign |
Het |
| Vmn2r17 |
G |
T |
5: 109,576,387 (GRCm39) |
M419I |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,153,054 (GRCm39) |
Q562* |
probably null |
Het |
| Zfyve16 |
A |
T |
13: 92,650,328 (GRCm39) |
D885E |
probably benign |
Het |
|
| Other mutations in Taf1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00539:Taf1c
|
APN |
8 |
120,328,067 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01098:Taf1c
|
APN |
8 |
120,329,580 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01287:Taf1c
|
APN |
8 |
120,327,931 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02339:Taf1c
|
APN |
8 |
120,331,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02642:Taf1c
|
APN |
8 |
120,325,796 (GRCm39) |
missense |
probably benign |
|
|
IGL02954:Taf1c
|
APN |
8 |
120,327,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Taf1c
|
UTSW |
8 |
120,330,975 (GRCm39) |
splice site |
probably null |
|
|
R0031:Taf1c
|
UTSW |
8 |
120,325,829 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0087:Taf1c
|
UTSW |
8 |
120,327,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0197:Taf1c
|
UTSW |
8 |
120,326,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0701:Taf1c
|
UTSW |
8 |
120,326,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0883:Taf1c
|
UTSW |
8 |
120,326,722 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2200:Taf1c
|
UTSW |
8 |
120,325,417 (GRCm39) |
missense |
probably benign |
|
|
R3726:Taf1c
|
UTSW |
8 |
120,329,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Taf1c
|
UTSW |
8 |
120,327,224 (GRCm39) |
nonsense |
probably null |
|
|
R3916:Taf1c
|
UTSW |
8 |
120,327,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4368:Taf1c
|
UTSW |
8 |
120,326,055 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4470:Taf1c
|
UTSW |
8 |
120,326,361 (GRCm39) |
missense |
probably benign |
|
|
R4501:Taf1c
|
UTSW |
8 |
120,326,168 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Taf1c
|
UTSW |
8 |
120,325,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4741:Taf1c
|
UTSW |
8 |
120,330,134 (GRCm39) |
unclassified |
probably benign |
|
|
R4938:Taf1c
|
UTSW |
8 |
120,325,537 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5481:Taf1c
|
UTSW |
8 |
120,325,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6335:Taf1c
|
UTSW |
8 |
120,328,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6517:Taf1c
|
UTSW |
8 |
120,330,986 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R7083:Taf1c
|
UTSW |
8 |
120,327,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7351:Taf1c
|
UTSW |
8 |
120,325,739 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8056:Taf1c
|
UTSW |
8 |
120,330,202 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8170:Taf1c
|
UTSW |
8 |
120,329,565 (GRCm39) |
splice site |
probably null |
|
|
R8279:Taf1c
|
UTSW |
8 |
120,325,750 (GRCm39) |
missense |
probably benign |
|
|
R8492:Taf1c
|
UTSW |
8 |
120,325,456 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9375:Taf1c
|
UTSW |
8 |
120,325,393 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:Taf1c
|
UTSW |
8 |
120,325,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGCTGCTCTCTCATTGGC -3'
(R):5'- GTGTGACAGCTCAGGACTTC -3'
Sequencing Primer
(F):5'- GAGGTCCTGAAGCAGCTTCTTC -3'
(R):5'- CAGGACTTCCTTTTCCGGGGAG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation