Incidental Mutation 'R6517:Taf1c'
| ID |
520802 |
| 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 |
044644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.954)
|
| Stock # |
R6517 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120324713-120331945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 120330986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Threonine
at position 44
(N44T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118480
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093099]
[ENSMUST00000147964]
|
| AlphaFold |
Q6PDZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093099
AA Change: N44T
PolyPhen 2
Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: N44T
| 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 |
noncoding transcript
Transcript: ENSMUST00000117927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144379
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147964
AA Change: N44T
PolyPhen 2
Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832
AA Change: N44T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212929
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| 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 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
C |
T |
14: 29,704,673 (GRCm39) |
Q58* |
probably null |
Het |
| Adamts20 |
A |
C |
15: 94,180,985 (GRCm39) |
|
probably null |
Het |
| Alpk3 |
T |
A |
7: 80,728,327 (GRCm39) |
S486T |
possibly damaging |
Het |
| Cep162 |
T |
A |
9: 87,104,227 (GRCm39) |
E553V |
probably damaging |
Het |
| Epha5 |
T |
C |
5: 84,304,360 (GRCm39) |
I370V |
possibly damaging |
Het |
| Ets1 |
A |
T |
9: 32,664,093 (GRCm39) |
|
probably null |
Het |
| Fbxo38 |
C |
T |
18: 62,666,634 (GRCm39) |
E180K |
probably damaging |
Het |
| Fscn1 |
A |
G |
5: 142,957,741 (GRCm39) |
D296G |
probably damaging |
Het |
| Glul |
A |
G |
1: 153,783,779 (GRCm39) |
I325V |
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,693,274 (GRCm39) |
D99G |
probably benign |
Het |
| Krt1 |
A |
T |
15: 101,758,702 (GRCm39) |
V154D |
possibly damaging |
Het |
| Mdfic |
T |
A |
6: 15,770,324 (GRCm39) |
I110N |
probably damaging |
Het |
| Myo1g |
T |
C |
11: 6,462,509 (GRCm39) |
N541D |
probably damaging |
Het |
| Nos3 |
T |
A |
5: 24,588,622 (GRCm39) |
V1116D |
probably damaging |
Het |
| Or8h8 |
A |
G |
2: 86,753,441 (GRCm39) |
I145T |
probably benign |
Het |
| Piwil2 |
G |
T |
14: 70,611,785 (GRCm39) |
Q954K |
probably benign |
Het |
| Ppm1l |
T |
C |
3: 69,224,916 (GRCm39) |
M6T |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,327,907 (GRCm39) |
E861V |
possibly damaging |
Het |
| Senp2 |
C |
T |
16: 21,845,474 (GRCm39) |
T236M |
possibly damaging |
Het |
| Sgo2b |
A |
T |
8: 64,384,528 (GRCm39) |
V156D |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,814,475 (GRCm39) |
Y1585C |
probably damaging |
Het |
| Slc22a22 |
A |
G |
15: 57,114,365 (GRCm39) |
S321P |
probably benign |
Het |
| Slu7 |
T |
A |
11: 43,328,975 (GRCm39) |
Y66N |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,879,473 (GRCm39) |
H365R |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,096,410 (GRCm39) |
T246A |
probably benign |
Het |
| Tcirg1 |
C |
T |
19: 3,951,933 (GRCm39) |
V376M |
probably damaging |
Het |
| Tkt |
A |
G |
14: 30,271,280 (GRCm39) |
D17G |
probably damaging |
Het |
| Tle6 |
G |
A |
10: 81,427,810 (GRCm39) |
H482Y |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,889,689 (GRCm39) |
V672A |
probably benign |
Het |
| Zdbf2 |
T |
G |
1: 63,344,679 (GRCm39) |
D1019E |
possibly damaging |
Het |
| Zfp608 |
A |
T |
18: 55,032,150 (GRCm39) |
C597S |
possibly damaging |
Het |
| Zfp986 |
G |
C |
4: 145,625,870 (GRCm39) |
D177H |
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 |
|
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 |
|
|
R8382:Taf1c
|
UTSW |
8 |
120,329,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- GGTTGCCTGACTTCCTCATG -3'
(R):5'- TGAGACTCCTAATGAAGGCGTG -3'
Sequencing Primer
(F):5'- GACTTCCTCATGCTGGGC -3'
(R):5'- CTCCTAATGAAGGCGTGTGTAAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation