Incidental Mutation 'R1232:Gtf3c5'
| ID |
152315 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gtf3c5
|
| Ensembl Gene |
ENSMUSG00000026816 |
| Gene Name |
general transcription factor IIIC, polypeptide 5 |
| Synonyms |
TFIIICepsilon, TFiiiC2-63, TFIIIC63, 2700084A09Rik |
| MMRRC Submission |
039301-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1232 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
28456257-28473291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28461227 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 296
(W296R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028157]
[ENSMUST00000113889]
|
| AlphaFold |
Q8R2T8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028157
AA Change: W296R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
AA Change: W296R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Tau95
|
23 |
322 |
2.8e-71 |
PFAM |
|
coiled coil region
|
471 |
494 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113889
AA Change: W296R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
AA Change: W296R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
13 |
N/A |
INTRINSIC |
|
Pfam:Tau95
|
24 |
322 |
1.7e-85 |
PFAM |
|
coiled coil region
|
477 |
500 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131370
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139580
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142054
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177012
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 88.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
A |
1: 156,469,300 (GRCm39) |
L751M |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,796,989 (GRCm39) |
D525G |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,095,752 (GRCm39) |
Y1782C |
possibly damaging |
Het |
| Ces2h |
T |
C |
8: 105,741,287 (GRCm39) |
M93T |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,289,760 (GRCm39) |
D209V |
possibly damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fbxo38 |
A |
G |
18: 62,643,882 (GRCm39) |
V925A |
probably damaging |
Het |
| Glp1r |
A |
C |
17: 31,137,905 (GRCm39) |
H112P |
probably benign |
Het |
| Ints8 |
A |
G |
4: 11,234,587 (GRCm39) |
I415T |
possibly damaging |
Het |
| Krt1c |
A |
G |
15: 101,720,219 (GRCm39) |
S513P |
probably damaging |
Het |
| Loxhd1 |
G |
A |
18: 77,493,699 (GRCm39) |
|
probably null |
Het |
| Mfsd3 |
A |
G |
15: 76,587,382 (GRCm39) |
Q355R |
probably damaging |
Het |
| Mms22l |
C |
T |
4: 24,536,274 (GRCm39) |
T621I |
probably benign |
Het |
| Or8g54 |
G |
A |
9: 39,707,264 (GRCm39) |
V198I |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,828 (GRCm39) |
N169D |
probably benign |
Het |
| Rnls |
T |
G |
19: 33,180,046 (GRCm39) |
I135L |
probably benign |
Het |
| Sgsm1 |
G |
T |
5: 113,421,577 (GRCm39) |
C558* |
probably null |
Het |
| Spata31d1c |
T |
A |
13: 65,184,428 (GRCm39) |
C657S |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,441,168 (GRCm39) |
D230G |
probably benign |
Het |
| Zfp429 |
T |
C |
13: 67,538,751 (GRCm39) |
Y231C |
possibly damaging |
Het |
|
| Other mutations in Gtf3c5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01817:Gtf3c5
|
APN |
2 |
28,459,301 (GRCm39) |
splice site |
probably null |
|
|
R0062:Gtf3c5
|
UTSW |
2 |
28,462,198 (GRCm39) |
splice site |
probably benign |
|
|
R0062:Gtf3c5
|
UTSW |
2 |
28,462,198 (GRCm39) |
splice site |
probably benign |
|
|
R0395:Gtf3c5
|
UTSW |
2 |
28,467,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0653:Gtf3c5
|
UTSW |
2 |
28,468,008 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1828:Gtf3c5
|
UTSW |
2 |
28,469,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2174:Gtf3c5
|
UTSW |
2 |
28,457,787 (GRCm39) |
missense |
probably benign |
0.26 |
|
R3154:Gtf3c5
|
UTSW |
2 |
28,469,548 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4247:Gtf3c5
|
UTSW |
2 |
28,461,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Gtf3c5
|
UTSW |
2 |
28,469,596 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4673:Gtf3c5
|
UTSW |
2 |
28,462,236 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5092:Gtf3c5
|
UTSW |
2 |
28,472,885 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6009:Gtf3c5
|
UTSW |
2 |
28,461,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6334:Gtf3c5
|
UTSW |
2 |
28,460,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6808:Gtf3c5
|
UTSW |
2 |
28,460,499 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7490:Gtf3c5
|
UTSW |
2 |
28,461,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7544:Gtf3c5
|
UTSW |
2 |
28,469,554 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7940:Gtf3c5
|
UTSW |
2 |
28,458,592 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8003:Gtf3c5
|
UTSW |
2 |
28,459,373 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8176:Gtf3c5
|
UTSW |
2 |
28,460,429 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8319:Gtf3c5
|
UTSW |
2 |
28,460,506 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9151:Gtf3c5
|
UTSW |
2 |
28,463,577 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACTGGCACATCTAGCAGCTCTC -3'
(R):5'- GTTGTCACAGAAACTCCTGATCCCAC -3'
Sequencing Primer
(F):5'- tccacctgcttttgcctc -3'
(R):5'- AGAAACTCCTGATCCCACTTTATC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation