Incidental Mutation 'IGL01077:Tedc1'
| ID |
278157 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tedc1
|
| Ensembl Gene |
ENSMUSG00000037466 |
| Gene Name |
tubulin epsilon and delta complex 1 |
| Synonyms |
4930427A07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01077
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113120041-113129668 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 113126808 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 357
(R357*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049271]
[ENSMUST00000196755]
[ENSMUST00000200522]
|
| AlphaFold |
Q3UK37 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000049271
AA Change: R357*
|
| SMART Domains |
Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466
AA Change: R357*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
21 |
N/A |
INTRINSIC |
|
Pfam:DUF4509
|
41 |
221 |
4.8e-65 |
PFAM |
|
low complexity region
|
233 |
245 |
N/A |
INTRINSIC |
|
Pfam:DUF4510
|
258 |
418 |
3.1e-73 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196755
|
| SMART Domains |
Protein: ENSMUSP00000143431
Gene: ENSMUSG00000037466
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:DUF4509
|
40 |
138 |
4.1e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198072
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200522
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aox1 |
A |
T |
1: 58,096,569 (GRCm39) |
|
probably benign |
Het |
| Arhgap4 |
A |
G |
X: 72,943,699 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
T |
G |
10: 50,525,413 (GRCm39) |
|
probably benign |
Het |
| Cacng5 |
C |
T |
11: 107,772,531 (GRCm39) |
V106I |
probably benign |
Het |
| Car10 |
T |
C |
11: 93,487,969 (GRCm39) |
I222T |
possibly damaging |
Het |
| Cep250 |
G |
A |
2: 155,804,054 (GRCm39) |
V55M |
probably damaging |
Het |
| Chst4 |
T |
A |
8: 110,756,597 (GRCm39) |
Y422F |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,108,220 (GRCm39) |
E185G |
probably benign |
Het |
| Dtx2 |
T |
A |
5: 136,058,057 (GRCm39) |
M454K |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,127,513 (GRCm39) |
S2142T |
unknown |
Het |
| Ganc |
C |
T |
2: 120,276,996 (GRCm39) |
T686M |
possibly damaging |
Het |
| Gm53 |
C |
T |
11: 96,142,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gria3 |
T |
C |
X: 40,677,369 (GRCm39) |
V254A |
possibly damaging |
Het |
| H2-DMb2 |
G |
T |
17: 34,367,587 (GRCm39) |
A3S |
probably damaging |
Het |
| H2-DMb2 |
A |
G |
17: 34,366,694 (GRCm39) |
Y42C |
probably damaging |
Het |
| Mtrex |
A |
T |
13: 113,051,023 (GRCm39) |
I184K |
probably damaging |
Het |
| Myzap |
T |
C |
9: 71,454,042 (GRCm39) |
E343G |
probably damaging |
Het |
| Nap1l2 |
T |
C |
X: 102,228,922 (GRCm39) |
D332G |
probably benign |
Het |
| Npr1 |
T |
G |
3: 90,365,669 (GRCm39) |
D628A |
probably damaging |
Het |
| Raet1e |
T |
C |
10: 22,057,219 (GRCm39) |
L181S |
probably damaging |
Het |
| Rnf43 |
G |
T |
11: 87,622,718 (GRCm39) |
M606I |
probably benign |
Het |
| Serpinb6b |
G |
A |
13: 33,162,049 (GRCm39) |
D283N |
possibly damaging |
Het |
| Slit2 |
A |
G |
5: 48,374,785 (GRCm39) |
|
probably null |
Het |
| Supt5 |
C |
T |
7: 28,023,213 (GRCm39) |
W323* |
probably null |
Het |
| Svep1 |
T |
A |
4: 58,068,760 (GRCm39) |
I3009F |
possibly damaging |
Het |
| Tll1 |
T |
C |
8: 64,523,266 (GRCm39) |
Y482C |
probably benign |
Het |
| Trappc8 |
G |
A |
18: 20,970,035 (GRCm39) |
T985I |
probably benign |
Het |
| Zfp945 |
T |
C |
17: 23,071,359 (GRCm39) |
K180R |
probably damaging |
Het |
|
| Other mutations in Tedc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Tedc1
|
APN |
12 |
113,126,770 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01074:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01075:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01084:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01103:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01108:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01137:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01142:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01149:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01150:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL01151:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
IGL02646:Tedc1
|
APN |
12 |
113,120,921 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02989:Tedc1
|
APN |
12 |
113,126,941 (GRCm39) |
missense |
probably benign |
0.09 |
|
ANU05:Tedc1
|
UTSW |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
ANU22:Tedc1
|
UTSW |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
R1309:Tedc1
|
UTSW |
12 |
113,125,400 (GRCm39) |
missense |
probably benign |
|
|
R1555:Tedc1
|
UTSW |
12 |
113,120,117 (GRCm39) |
unclassified |
probably benign |
|
|
R2092:Tedc1
|
UTSW |
12 |
113,121,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3053:Tedc1
|
UTSW |
12 |
113,120,087 (GRCm39) |
unclassified |
probably benign |
|
|
R4130:Tedc1
|
UTSW |
12 |
113,126,828 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5050:Tedc1
|
UTSW |
12 |
113,120,325 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5386:Tedc1
|
UTSW |
12 |
113,120,302 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6377:Tedc1
|
UTSW |
12 |
113,124,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Tedc1
|
UTSW |
12 |
113,121,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6761:Tedc1
|
UTSW |
12 |
113,125,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8220:Tedc1
|
UTSW |
12 |
113,120,375 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9240:Tedc1
|
UTSW |
12 |
113,121,310 (GRCm39) |
missense |
probably benign |
0.43 |
|
| Posted On |
2015-04-16 |
Incidental Mutation