Incidental Mutation 'IGL01151:Tedc1'
| ID |
278220 |
| 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 # |
IGL01151
|
| 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 |
|---|
| Adgrv1 |
T |
C |
13: 81,553,518 (GRCm39) |
Q5452R |
probably benign |
Het |
| Ankrd42 |
A |
G |
7: 92,254,408 (GRCm39) |
|
probably benign |
Het |
| Camk2g |
T |
C |
14: 20,816,027 (GRCm39) |
D157G |
probably damaging |
Het |
| Cd55b |
A |
T |
1: 130,350,643 (GRCm39) |
V18E |
possibly damaging |
Het |
| Ep300 |
T |
A |
15: 81,507,673 (GRCm39) |
|
probably benign |
Het |
| Fbxw26 |
A |
G |
9: 109,550,848 (GRCm39) |
V393A |
possibly damaging |
Het |
| Fkbp4 |
T |
C |
6: 128,412,754 (GRCm39) |
T59A |
probably benign |
Het |
| Gbp5 |
T |
C |
3: 142,206,355 (GRCm39) |
L13P |
probably damaging |
Het |
| Gpr161 |
G |
T |
1: 165,149,078 (GRCm39) |
L482F |
probably damaging |
Het |
| Il6st |
T |
A |
13: 112,630,185 (GRCm39) |
S344T |
probably benign |
Het |
| Itpr3 |
T |
G |
17: 27,310,503 (GRCm39) |
F429V |
probably damaging |
Het |
| Kbtbd11 |
G |
T |
8: 15,079,176 (GRCm39) |
D592Y |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,958,690 (GRCm39) |
G465V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,435,601 (GRCm39) |
Y974F |
probably benign |
Het |
| Nek1 |
A |
G |
8: 61,473,111 (GRCm39) |
Y169C |
probably damaging |
Het |
| Nos1ap |
A |
T |
1: 170,416,845 (GRCm39) |
I30N |
probably damaging |
Het |
| Obox5 |
T |
C |
7: 15,492,516 (GRCm39) |
I157T |
possibly damaging |
Het |
| Or10ag60 |
A |
T |
2: 87,438,323 (GRCm39) |
D197V |
probably damaging |
Het |
| Pcdhb10 |
T |
A |
18: 37,545,248 (GRCm39) |
I108N |
probably damaging |
Het |
| Pgf |
A |
G |
12: 85,218,510 (GRCm39) |
L80P |
probably damaging |
Het |
| Rpgrip1l |
A |
G |
8: 92,001,777 (GRCm39) |
L459P |
probably damaging |
Het |
| Slc9a1 |
A |
T |
4: 133,139,300 (GRCm39) |
I173F |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,378,197 (GRCm39) |
S146P |
possibly damaging |
Het |
| Thumpd1 |
C |
T |
7: 119,317,418 (GRCm39) |
R161Q |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,116,174 (GRCm39) |
I5T |
possibly damaging |
Het |
| Umod |
A |
G |
7: 119,076,442 (GRCm39) |
V108A |
possibly damaging |
Het |
| Usp38 |
A |
T |
8: 81,740,469 (GRCm39) |
S199R |
probably damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,086 (GRCm39) |
Y742F |
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 |
|
|
IGL01077: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 |
|
|
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