Incidental Mutation 'IGL01287:Taf1c'
| ID |
72754 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Taf1c
|
| Ensembl Gene |
ENSMUSG00000031832 |
| Gene Name |
TATA-box binding protein associated factor, RNA polymerase I, C |
| Synonyms |
mTAFI95 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
IGL01287
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
120324713-120331945 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 120327931 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 293
(T293M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093099]
[ENSMUST00000093100]
[ENSMUST00000147964]
|
| AlphaFold |
Q6PDZ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093099
AA Change: T293M
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: T293M
| 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 |
noncoding transcript
Transcript: ENSMUST00000117927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131652
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144379
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147964
|
| SMART Domains |
Protein: ENSMUSP00000118480
Gene: ENSMUSG00000031832
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
60 |
79 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212929
|
| 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 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
T |
C |
9: 57,165,040 (GRCm39) |
K445E |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,932,081 (GRCm39) |
|
probably benign |
Het |
| Acsbg3 |
C |
T |
17: 57,189,203 (GRCm39) |
Q204* |
probably null |
Het |
| Acvr1c |
A |
T |
2: 58,170,254 (GRCm39) |
C371* |
probably null |
Het |
| Brs3 |
T |
C |
X: 56,092,727 (GRCm39) |
|
probably benign |
Het |
| Car14 |
C |
T |
3: 95,806,871 (GRCm39) |
V198M |
possibly damaging |
Het |
| Cenpc1 |
G |
A |
5: 86,170,313 (GRCm39) |
R704* |
probably null |
Het |
| Crybg1 |
C |
T |
10: 43,868,490 (GRCm39) |
R1396H |
possibly damaging |
Het |
| Cubn |
A |
G |
2: 13,315,377 (GRCm39) |
S3019P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,471,665 (GRCm39) |
E222G |
probably benign |
Het |
| Defb50 |
C |
A |
8: 22,321,187 (GRCm39) |
T59K |
probably benign |
Het |
| Dlg3 |
T |
C |
X: 99,850,848 (GRCm39) |
I587T |
possibly damaging |
Het |
| Doc2a |
C |
T |
7: 126,450,173 (GRCm39) |
R204C |
probably damaging |
Het |
| Galc |
T |
C |
12: 98,212,503 (GRCm39) |
|
probably benign |
Het |
| Gm8257 |
A |
T |
14: 44,892,800 (GRCm39) |
F67I |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,426,323 (GRCm39) |
N509K |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,028,625 (GRCm39) |
I678F |
possibly damaging |
Het |
| Ifit1 |
A |
G |
19: 34,625,533 (GRCm39) |
E223G |
possibly damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrp4 |
C |
A |
2: 91,304,293 (GRCm39) |
D157E |
probably damaging |
Het |
| Ltk |
T |
A |
2: 119,586,186 (GRCm39) |
T21S |
probably benign |
Het |
| Lvrn |
A |
T |
18: 46,997,733 (GRCm39) |
|
probably benign |
Het |
| Maob |
G |
A |
X: 16,578,881 (GRCm39) |
A424V |
probably damaging |
Het |
| Myo1g |
C |
A |
11: 6,465,856 (GRCm39) |
V410F |
possibly damaging |
Het |
| Myorg |
T |
A |
4: 41,498,923 (GRCm39) |
I236F |
possibly damaging |
Het |
| Naxe |
T |
C |
3: 87,963,981 (GRCm39) |
H250R |
probably damaging |
Het |
| Nek5 |
T |
C |
8: 22,601,199 (GRCm39) |
N174S |
possibly damaging |
Het |
| Or2y3 |
G |
T |
17: 38,392,998 (GRCm39) |
N290K |
probably damaging |
Het |
| Or51l14 |
C |
T |
7: 103,101,002 (GRCm39) |
R153W |
probably damaging |
Het |
| Or9m2 |
A |
G |
2: 87,821,288 (GRCm39) |
T278A |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,656,027 (GRCm39) |
T285A |
probably benign |
Het |
| Pfas |
A |
G |
11: 68,892,086 (GRCm39) |
S141P |
probably benign |
Het |
| Pmm1 |
T |
C |
15: 81,839,945 (GRCm39) |
T127A |
probably damaging |
Het |
| Proc |
C |
A |
18: 32,256,873 (GRCm39) |
|
probably benign |
Het |
| Ranbp9 |
T |
C |
13: 43,633,980 (GRCm39) |
E142G |
probably damaging |
Het |
| Recql4 |
C |
A |
15: 76,594,112 (GRCm39) |
|
probably benign |
Het |
| Robo4 |
C |
T |
9: 37,324,336 (GRCm39) |
P955S |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,539,418 (GRCm39) |
N3274I |
probably damaging |
Het |
| Serpinb10 |
T |
C |
1: 107,468,612 (GRCm39) |
|
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,404,811 (GRCm39) |
K848* |
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,847,807 (GRCm39) |
T231A |
probably damaging |
Het |
| Syncrip |
T |
C |
9: 88,338,660 (GRCm39) |
|
probably benign |
Het |
| Syt16 |
A |
T |
12: 74,313,513 (GRCm39) |
T480S |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,120,826 (GRCm39) |
D430G |
possibly damaging |
Het |
| Tbx18 |
T |
C |
9: 87,606,384 (GRCm39) |
T254A |
probably damaging |
Het |
| Tpm1 |
C |
T |
9: 66,943,337 (GRCm39) |
R105H |
probably damaging |
Het |
| Usp17la |
T |
C |
7: 104,510,522 (GRCm39) |
S376P |
probably benign |
Het |
| Vmn1r19 |
A |
G |
6: 57,382,179 (GRCm39) |
D244G |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,054 (GRCm39) |
F59I |
probably benign |
Het |
| Vmn2r45 |
A |
T |
7: 8,488,622 (GRCm39) |
M136K |
probably benign |
Het |
| Vmn2r70 |
T |
A |
7: 85,218,227 (GRCm39) |
R24* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,801 (GRCm39) |
I671F |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation