Incidental Mutation 'R1257:Taf1a'
| ID |
151483 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Taf1a
|
| Ensembl Gene |
ENSMUSG00000072258 |
| Gene Name |
TATA-box binding protein associated factor, RNA polymerase I, A |
| Synonyms |
mTAFI48 |
| MMRRC Submission |
039324-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.925)
|
| Stock # |
R1257 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
183170325-183191020 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 183179175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 118
(T118A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097043]
[ENSMUST00000192076]
|
| AlphaFold |
P97357 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097043
AA Change: T118A
PolyPhen 2
Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094808
Gene: ENSMUSG00000072258
AA Change: T118A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAF1_subA
|
9 |
291 |
1.6e-72 |
PFAM |
|
Pfam:TAF1_subA
|
321 |
446 |
3e-44 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192076
AA Change: T118A
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000142213
Gene: ENSMUSG00000072258
AA Change: T118A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TAF1_subA
|
9 |
296 |
8.4e-70 |
PFAM |
|
Pfam:TAF1_subA
|
328 |
360 |
1.3e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the RNA polymerase I complex, Selectivity Factor I (SLI). The encoded protein is a TATA box-binding protein-associated factor that plays a role in the assembly of the RNA polymerase I preinitiation complex. Alternate splicing results in multiple transcript variants encoding multiple isoforms.[provided by RefSeq, Jan 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
T |
2: 127,886,286 (GRCm39) |
T174S |
probably benign |
Het |
| Ank3 |
C |
T |
10: 69,710,665 (GRCm39) |
R408* |
probably null |
Het |
| Ceacam15 |
A |
G |
7: 16,405,949 (GRCm39) |
S201P |
possibly damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,708,117 (GRCm39) |
I241V |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,234,545 (GRCm39) |
L237* |
probably null |
Het |
| Col4a3 |
T |
A |
1: 82,694,086 (GRCm39) |
C133S |
probably damaging |
Het |
| Dnajc9 |
G |
A |
14: 20,438,765 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
T |
A |
7: 105,343,360 (GRCm39) |
V1568D |
probably damaging |
Het |
| Gli3 |
C |
T |
13: 15,900,581 (GRCm39) |
Q1323* |
probably null |
Het |
| Grhpr |
A |
G |
4: 44,989,045 (GRCm39) |
N287S |
probably damaging |
Het |
| H2bl1 |
A |
T |
13: 99,121,023 (GRCm39) |
M1K |
probably null |
Het |
| Hectd4 |
G |
A |
5: 121,456,687 (GRCm39) |
W684* |
probably null |
Het |
| Kifc3 |
A |
G |
8: 95,832,400 (GRCm39) |
V474A |
probably damaging |
Het |
| Lrrc37 |
A |
G |
11: 103,425,467 (GRCm39) |
V1462A |
unknown |
Het |
| Mdn1 |
A |
T |
4: 32,667,089 (GRCm39) |
|
probably null |
Het |
| Med7 |
C |
G |
11: 46,331,460 (GRCm39) |
I18M |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,658,375 (GRCm39) |
Y707H |
probably benign |
Het |
| Nol4 |
A |
T |
18: 22,903,738 (GRCm39) |
N339K |
probably damaging |
Het |
| Or6c209 |
A |
T |
10: 129,483,413 (GRCm39) |
K139* |
probably null |
Het |
| Rbm34 |
C |
T |
8: 127,697,643 (GRCm39) |
G23S |
possibly damaging |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
| Snap25 |
A |
T |
2: 136,600,268 (GRCm39) |
E37V |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,625,049 (GRCm39) |
T1634A |
probably benign |
Het |
| Thrb |
T |
A |
14: 18,008,642 (GRCm38) |
I122K |
probably damaging |
Het |
| Xkr4 |
T |
G |
1: 3,287,036 (GRCm39) |
I385L |
probably benign |
Het |
| Zeb1 |
G |
T |
18: 5,772,699 (GRCm39) |
R996L |
possibly damaging |
Het |
|
| Other mutations in Taf1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R2484:Taf1a
|
UTSW |
1 |
183,177,422 (GRCm39) |
splice site |
probably benign |
|
|
R2878:Taf1a
|
UTSW |
1 |
183,179,173 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3883:Taf1a
|
UTSW |
1 |
183,172,288 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4619:Taf1a
|
UTSW |
1 |
183,181,752 (GRCm39) |
splice site |
probably benign |
|
|
R5029:Taf1a
|
UTSW |
1 |
183,177,273 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5517:Taf1a
|
UTSW |
1 |
183,177,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5799:Taf1a
|
UTSW |
1 |
183,177,272 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7392:Taf1a
|
UTSW |
1 |
183,190,095 (GRCm39) |
missense |
|
|
|
R7635:Taf1a
|
UTSW |
1 |
183,189,253 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7707:Taf1a
|
UTSW |
1 |
183,185,583 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9233:Taf1a
|
UTSW |
1 |
183,181,878 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
RF056:Taf1a
|
UTSW |
1 |
183,172,369 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1088:Taf1a
|
UTSW |
1 |
183,185,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTGGTAAAGCCTGCCAGTG -3'
(R):5'- ACAAGGAGTGAGCATCATCACAGC -3'
Sequencing Primer
(F):5'- GCTGGTTTCCATGGAGAGTA -3'
(R):5'- CTTAGCACTGATACAAGCAATTAACA -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation