Incidental Mutation 'R3765:Taf1c'
| ID |
274654 |
| 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 |
040742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R3765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
120324713-120331945 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 120327224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 418
(Y418*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000090789
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093099]
[ENSMUST00000093100]
[ENSMUST00000147964]
|
| AlphaFold |
Q6PDZ2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000093099
AA Change: Y418*
|
| SMART Domains |
Protein: ENSMUSP00000090789
Gene: ENSMUSG00000031832
AA Change: Y418*
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,258,585 (GRCm39) |
V403A |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,268,595 (GRCm39) |
S903P |
probably benign |
Het |
| Arl6ip6 |
T |
A |
2: 53,082,243 (GRCm39) |
W37R |
probably damaging |
Het |
| Bag3 |
C |
T |
7: 128,141,995 (GRCm39) |
T162I |
probably benign |
Het |
| C4b |
G |
A |
17: 34,948,814 (GRCm39) |
P1545S |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,575,117 (GRCm39) |
H524L |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,824,014 (GRCm39) |
N119S |
probably benign |
Het |
| Churc1 |
C |
A |
12: 76,820,057 (GRCm39) |
S22* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
| Dag1 |
C |
T |
9: 108,085,398 (GRCm39) |
G581E |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,216,780 (GRCm39) |
T92S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,094,958 (GRCm39) |
T137A |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,613,736 (GRCm39) |
I775T |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,748,622 (GRCm39) |
D667G |
possibly damaging |
Het |
| Foxl2 |
T |
A |
9: 98,838,039 (GRCm39) |
I109N |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gstm2 |
A |
G |
3: 107,891,346 (GRCm39) |
F124S |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,620,776 (GRCm39) |
S1145G |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Jmy |
T |
C |
13: 93,601,219 (GRCm39) |
M396V |
possibly damaging |
Het |
| Ldb3 |
A |
T |
14: 34,300,639 (GRCm39) |
|
probably null |
Het |
| Mre11a |
A |
G |
9: 14,721,143 (GRCm39) |
N354S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,912,970 (GRCm39) |
V939A |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,635 (GRCm39) |
S928P |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,211,795 (GRCm39) |
M60I |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,179 (GRCm39) |
V222A |
probably benign |
Het |
| Or8g34 |
T |
A |
9: 39,372,920 (GRCm39) |
Y61* |
probably null |
Het |
| Or9e1 |
T |
C |
11: 58,732,120 (GRCm39) |
F60S |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,323 (GRCm39) |
V169M |
probably damaging |
Het |
| Polr1c |
C |
T |
17: 46,558,850 (GRCm39) |
V14M |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,327,122 (GRCm39) |
S898L |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,157,510 (GRCm39) |
E260* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,341,842 (GRCm39) |
T106A |
probably benign |
Het |
| Rab3il1 |
A |
G |
19: 10,005,673 (GRCm39) |
T87A |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,974,788 (GRCm39) |
V783A |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,513,054 (GRCm39) |
D209A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,314 (GRCm39) |
L345P |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,411,244 (GRCm39) |
M934L |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,798,850 (GRCm39) |
V1357A |
probably damaging |
Het |
| Spidr |
T |
C |
16: 15,786,504 (GRCm39) |
E413G |
probably benign |
Het |
| Taar1 |
A |
G |
10: 23,797,205 (GRCm39) |
Y301C |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Tanc2 |
A |
G |
11: 105,805,796 (GRCm39) |
D394G |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,133 (GRCm39) |
A1055V |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,009,266 (GRCm39) |
Y2767H |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,519,394 (GRCm39) |
N172S |
probably damaging |
Het |
| Zfp839 |
T |
C |
12: 110,821,597 (GRCm39) |
V137A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTAGGTTTGCAGATGACCC -3'
(R):5'- AATGGTTGACATTCAGGTATCGG -3'
Sequencing Primer
(F):5'- AGGTTTGCAGATGACCCATTCC -3'
(R):5'- ACATTCAGGTATCGGTTGAGAG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation