Incidental Mutation 'IGL00955:Gtf2e1'
| ID |
29180 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gtf2e1
|
| Ensembl Gene |
ENSMUSG00000022828 |
| Gene Name |
general transcription factor II E, polypeptide 1 (alpha subunit) |
| Synonyms |
FE, TFIIE-A, 2610024P03Rik, 56kDa |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
IGL00955
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
37330158-37360151 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 37356282 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 83
(D83E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023524]
[ENSMUST00000023525]
[ENSMUST00000130028]
|
| AlphaFold |
Q9D0D5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023524
|
| SMART Domains |
Protein: ENSMUSP00000023524
Gene: ENSMUSG00000022827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MMR_HSR1
|
8 |
128 |
8.5e-8 |
PFAM |
|
Pfam:Roc
|
8 |
132 |
1.2e-16 |
PFAM |
|
Pfam:Ras
|
8 |
178 |
7.9e-15 |
PFAM |
|
Pfam:Gtr1_RagA
|
8 |
181 |
2.1e-7 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000023525
AA Change: D83E
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000023525
Gene: ENSMUSG00000022828
AA Change: D83E
| Domain | Start | End | E-Value | Type |
|---|
|
TFIIE
|
28 |
175 |
2.69e-74 |
SMART |
|
low complexity region
|
221 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
351 |
N/A |
INTRINSIC |
|
Pfam:TFIIE-A_C
|
354 |
440 |
9.9e-36 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128036
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130028
|
| SMART Domains |
Protein: ENSMUSP00000122441
Gene: ENSMUSG00000022827
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
1 |
126 |
3.3e-6 |
PFAM |
|
Pfam:Gtr1_RagA
|
8 |
118 |
5.5e-8 |
PFAM |
|
Pfam:MMR_HSR1
|
8 |
127 |
9.8e-8 |
PFAM |
|
Pfam:Ras
|
8 |
128 |
9.5e-15 |
PFAM |
|
Pfam:Miro
|
8 |
129 |
2.3e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130350
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl11 |
A |
T |
14: 61,548,691 (GRCm39) |
Q167L |
probably benign |
Het |
| Ces3a |
T |
A |
8: 105,777,202 (GRCm39) |
V175E |
probably damaging |
Het |
| Cherp |
C |
T |
8: 73,224,038 (GRCm39) |
E140K |
probably damaging |
Het |
| Clpx |
A |
T |
9: 65,231,552 (GRCm39) |
T546S |
probably damaging |
Het |
| Csgalnact2 |
A |
G |
6: 118,106,225 (GRCm39) |
L31P |
probably damaging |
Het |
| Cxcr1 |
A |
T |
1: 74,231,379 (GRCm39) |
F214L |
probably benign |
Het |
| Cyp2c67 |
T |
A |
19: 39,631,829 (GRCm39) |
T123S |
possibly damaging |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Dzank1 |
G |
A |
2: 144,332,094 (GRCm39) |
T414I |
probably benign |
Het |
| Erich3 |
A |
G |
3: 154,454,156 (GRCm39) |
I641V |
probably benign |
Het |
| Hars2 |
T |
C |
18: 36,922,410 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh2 |
T |
C |
5: 24,529,964 (GRCm39) |
D372G |
probably damaging |
Het |
| Kcnk2 |
A |
T |
1: 188,975,211 (GRCm39) |
I264N |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,668 (GRCm39) |
D213G |
probably damaging |
Het |
| Lhx9 |
T |
C |
1: 138,756,418 (GRCm39) |
T323A |
possibly damaging |
Het |
| Lilra6 |
C |
A |
7: 3,914,403 (GRCm39) |
|
probably benign |
Het |
| Meig1 |
T |
C |
2: 3,410,311 (GRCm39) |
D63G |
probably damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,879,192 (GRCm39) |
Y184C |
probably damaging |
Het |
| Mrpl24 |
T |
A |
3: 87,829,526 (GRCm39) |
L91* |
probably null |
Het |
| Mup11 |
C |
T |
4: 60,615,549 (GRCm39) |
R175H |
probably benign |
Het |
| Nbea |
T |
C |
3: 55,912,893 (GRCm39) |
K965E |
possibly damaging |
Het |
| Or52ab7 |
C |
A |
7: 102,978,528 (GRCm39) |
H278Q |
probably damaging |
Het |
| Papss1 |
G |
A |
3: 131,305,710 (GRCm39) |
E252K |
probably benign |
Het |
| Robo2 |
A |
T |
16: 73,812,860 (GRCm39) |
L278Q |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,202,125 (GRCm39) |
I638F |
probably damaging |
Het |
| Spin1 |
T |
C |
13: 51,298,577 (GRCm39) |
|
probably null |
Het |
| Taar9 |
T |
C |
10: 23,985,429 (GRCm39) |
T2A |
probably benign |
Het |
| Tbc1d8b |
T |
C |
X: 138,626,629 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Gtf2e1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00966:Gtf2e1
|
APN |
16 |
37,336,092 (GRCm39) |
missense |
probably benign |
|
|
IGL03372:Gtf2e1
|
APN |
16 |
37,356,077 (GRCm39) |
unclassified |
probably benign |
|
|
R2202:Gtf2e1
|
UTSW |
16 |
37,331,904 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R2203:Gtf2e1
|
UTSW |
16 |
37,331,904 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5262:Gtf2e1
|
UTSW |
16 |
37,356,293 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6457:Gtf2e1
|
UTSW |
16 |
37,356,698 (GRCm39) |
splice site |
probably null |
|
|
R6522:Gtf2e1
|
UTSW |
16 |
37,331,816 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7165:Gtf2e1
|
UTSW |
16 |
37,356,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7297:Gtf2e1
|
UTSW |
16 |
37,356,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8123:Gtf2e1
|
UTSW |
16 |
37,336,105 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8273:Gtf2e1
|
UTSW |
16 |
37,343,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9142:Gtf2e1
|
UTSW |
16 |
37,356,364 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Posted On |
2013-04-17 |
Incidental Mutation