Incidental Mutation 'R6335:Taf1c'
ID |
512911 |
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 |
044489-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.948)
|
Stock # |
R6335 (G1)
|
Quality Score |
155.008 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
120324713-120331945 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120328518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 163
(C163R)
|
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: C163R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090789 Gene: ENSMUSG00000031832 AA Change: C163R
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 |
possibly damaging
Transcript: ENSMUST00000147964
AA Change: V187A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000118480 Gene: ENSMUSG00000031832 AA Change: V187A
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: 98.1%
- 20x: 94.5%
|
Validation Efficiency |
100% (59/59) |
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: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atp11a |
T |
C |
8: 12,909,481 (GRCm39) |
|
probably null |
Het |
Best3 |
G |
T |
10: 116,838,556 (GRCm39) |
V205F |
probably benign |
Het |
C1qtnf1 |
A |
G |
11: 118,338,960 (GRCm39) |
H210R |
probably damaging |
Het |
Camkv |
T |
C |
9: 107,823,894 (GRCm39) |
|
probably null |
Het |
Cdk5rap2 |
A |
C |
4: 70,184,849 (GRCm39) |
D1200E |
possibly damaging |
Het |
Cep192 |
T |
A |
18: 67,967,784 (GRCm39) |
I756N |
probably damaging |
Het |
Crocc2 |
A |
T |
1: 93,130,560 (GRCm39) |
Q947L |
probably benign |
Het |
Dcaf1 |
A |
G |
9: 106,715,845 (GRCm39) |
T321A |
possibly damaging |
Het |
Dgkz |
T |
C |
2: 91,774,724 (GRCm39) |
M87V |
probably benign |
Het |
Dmrt2 |
T |
A |
19: 25,650,935 (GRCm39) |
S40R |
possibly damaging |
Het |
Dpep1 |
T |
G |
8: 123,927,391 (GRCm39) |
L315R |
probably damaging |
Het |
Fam221b |
G |
T |
4: 43,665,942 (GRCm39) |
T223N |
possibly damaging |
Het |
Fasn |
A |
T |
11: 120,706,185 (GRCm39) |
V1053E |
probably damaging |
Het |
Galc |
T |
C |
12: 98,208,973 (GRCm39) |
D227G |
probably damaging |
Het |
Grik1 |
A |
G |
16: 87,744,794 (GRCm39) |
L486P |
probably damaging |
Het |
Grik5 |
A |
G |
7: 24,713,019 (GRCm39) |
S836P |
probably benign |
Het |
Grpel2 |
T |
C |
18: 61,852,792 (GRCm39) |
K70R |
possibly damaging |
Het |
Ipo7 |
A |
G |
7: 109,617,675 (GRCm39) |
D15G |
possibly damaging |
Het |
Iqgap1 |
A |
G |
7: 80,377,772 (GRCm39) |
Y1284H |
probably damaging |
Het |
Lmo7 |
T |
C |
14: 102,138,072 (GRCm39) |
S692P |
probably damaging |
Het |
Mecom |
A |
G |
3: 30,034,905 (GRCm39) |
L447P |
probably damaging |
Het |
Mtor |
A |
G |
4: 148,550,384 (GRCm39) |
D680G |
probably damaging |
Het |
Muc16 |
T |
A |
9: 18,572,004 (GRCm39) |
I172F |
unknown |
Het |
Musk |
A |
G |
4: 58,366,811 (GRCm39) |
I476M |
probably benign |
Het |
Myef2 |
T |
C |
2: 124,951,632 (GRCm39) |
T268A |
probably damaging |
Het |
Naip1 |
A |
G |
13: 100,563,060 (GRCm39) |
S702P |
probably damaging |
Het |
Napa |
G |
T |
7: 15,849,562 (GRCm39) |
S258I |
probably benign |
Het |
Nfasc |
T |
A |
1: 132,504,132 (GRCm39) |
I1039F |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,228,902 (GRCm39) |
S1238G |
probably benign |
Het |
Or10q12 |
T |
C |
19: 13,746,144 (GRCm39) |
V146A |
probably benign |
Het |
Or1j12 |
A |
G |
2: 36,342,734 (GRCm39) |
I46V |
probably benign |
Het |
Or5w8 |
T |
A |
2: 87,687,811 (GRCm39) |
C97* |
probably null |
Het |
Pacs1 |
G |
T |
19: 5,210,005 (GRCm39) |
N215K |
probably damaging |
Het |
Parp10 |
A |
G |
15: 76,126,388 (GRCm39) |
S267P |
probably benign |
Het |
Pbrm1 |
G |
T |
14: 30,806,052 (GRCm39) |
C995F |
probably damaging |
Het |
Pcdh7 |
A |
T |
5: 58,099,607 (GRCm39) |
|
probably null |
Het |
Ppef2 |
T |
C |
5: 92,383,613 (GRCm39) |
Y499C |
probably damaging |
Het |
Pramel16 |
G |
T |
4: 143,675,602 (GRCm39) |
T408K |
probably benign |
Het |
Prex2 |
A |
C |
1: 11,180,544 (GRCm39) |
I370L |
probably benign |
Het |
Ptprd |
A |
G |
4: 75,872,420 (GRCm39) |
Y1350H |
probably damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,124,351 (GRCm39) |
K284E |
probably damaging |
Het |
Rexo1 |
A |
T |
10: 80,379,915 (GRCm39) |
Y23N |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Sash3 |
C |
T |
X: 47,248,398 (GRCm39) |
L307F |
probably damaging |
Homo |
Scn9a |
T |
A |
2: 66,398,608 (GRCm39) |
M1L |
possibly damaging |
Het |
Serpinb6e |
C |
A |
13: 34,021,805 (GRCm39) |
L174F |
probably benign |
Het |
Siae |
C |
T |
9: 37,544,277 (GRCm39) |
T275I |
probably benign |
Het |
Sptbn5 |
C |
A |
2: 119,884,900 (GRCm39) |
|
probably benign |
Het |
Ss18l2 |
C |
T |
9: 121,541,672 (GRCm39) |
T55I |
probably damaging |
Het |
Tanc2 |
C |
T |
11: 105,748,382 (GRCm39) |
R505W |
probably damaging |
Het |
Tango6 |
C |
A |
8: 107,419,308 (GRCm39) |
P285Q |
possibly damaging |
Het |
Tdrd9 |
G |
T |
12: 112,008,186 (GRCm39) |
|
probably null |
Het |
Tead3 |
A |
T |
17: 28,552,299 (GRCm39) |
L307H |
probably damaging |
Het |
Ticrr |
A |
C |
7: 79,344,031 (GRCm39) |
|
probably null |
Het |
Trpc4 |
T |
C |
3: 54,224,995 (GRCm39) |
|
probably null |
Het |
Upb1 |
A |
T |
10: 75,264,135 (GRCm39) |
T194S |
probably benign |
Het |
Vav3 |
A |
G |
3: 109,470,512 (GRCm39) |
N566S |
probably benign |
Het |
Vmn1r196 |
T |
A |
13: 22,477,887 (GRCm39) |
S175R |
probably benign |
Het |
Zscan29 |
T |
C |
2: 120,991,917 (GRCm39) |
N589D |
possibly 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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GATACACAGCTTGTCCAAGGC -3'
(R):5'- CAGAAGTCTATGGTTGCCTTGAC -3'
Sequencing Primer
(F):5'- ACTAGGGTAGACCAGCTGTC -3'
(R):5'- TGCCTTGACTGGGAACATC -3'
|
Posted On |
2018-04-27 |