Incidental Mutation 'IGL01817:Gtf3c5'
| ID |
154428 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf3c5
|
| Ensembl Gene |
ENSMUSG00000026816 |
| Gene Name |
general transcription factor IIIC, polypeptide 5 |
| Synonyms |
TFIIICepsilon, TFiiiC2-63, TFIIIC63, 2700084A09Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01817
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
28456257-28473291 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 28459301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028157]
[ENSMUST00000113889]
|
| AlphaFold |
Q8R2T8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028157
|
| SMART Domains |
Protein: ENSMUSP00000028157
Gene: ENSMUSG00000026816
| 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 null
Transcript: ENSMUST00000113889
|
| SMART Domains |
Protein: ENSMUSP00000109521
Gene: ENSMUSG00000026816
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Eif4g3 |
T |
C |
4: 137,847,673 (GRCm39) |
V198A |
probably benign |
Het |
| Exoc6b |
T |
C |
6: 85,046,320 (GRCm39) |
E23G |
probably damaging |
Het |
| Gm4847 |
C |
A |
1: 166,462,471 (GRCm39) |
D340Y |
probably damaging |
Het |
| Ighv1-13 |
G |
A |
12: 114,594,600 (GRCm39) |
|
probably benign |
Het |
| Ighv1-43 |
C |
A |
12: 114,909,714 (GRCm39) |
E69D |
probably benign |
Het |
| Ighv1-43 |
T |
C |
12: 114,909,715 (GRCm39) |
E69G |
probably benign |
Het |
| Itln1 |
C |
A |
1: 171,356,728 (GRCm39) |
L138F |
probably damaging |
Het |
| Nme1nme2 |
G |
T |
11: 93,846,447 (GRCm39) |
|
probably benign |
Het |
| Nsun5 |
G |
T |
5: 135,398,893 (GRCm39) |
G19V |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,348 (GRCm39) |
I294T |
probably benign |
Het |
| Or4c118 |
A |
G |
2: 88,974,702 (GRCm39) |
F222L |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
| Per1 |
T |
C |
11: 68,995,025 (GRCm39) |
L615P |
probably damaging |
Het |
| Pibf1 |
C |
A |
14: 99,423,908 (GRCm39) |
|
probably benign |
Het |
| Pik3r4 |
T |
A |
9: 105,528,021 (GRCm39) |
I458N |
probably damaging |
Het |
| Ppp1r14a |
T |
C |
7: 28,992,622 (GRCm39) |
V108A |
probably benign |
Het |
| Scamp2 |
T |
A |
9: 57,488,903 (GRCm39) |
C201* |
probably null |
Het |
| Speer1c |
C |
A |
5: 10,295,297 (GRCm39) |
A48S |
probably damaging |
Het |
| Stambpl1 |
G |
T |
19: 34,211,393 (GRCm39) |
L151F |
possibly damaging |
Het |
| Tent5c |
T |
C |
3: 100,380,171 (GRCm39) |
Y195C |
probably damaging |
Het |
| Vmn1r64 |
G |
A |
7: 5,887,222 (GRCm39) |
T107I |
probably damaging |
Het |
|
| Other mutations in Gtf3c5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1232:Gtf3c5
|
UTSW |
2 |
28,461,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2014-02-04 |
Incidental Mutation