Incidental Mutation 'IGL02646:Tedc1'
| ID |
301959 |
| 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 # |
IGL02646
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
113120041-113129668 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 113120921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Valine
at position 118
(L118V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143431
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006523]
[ENSMUST00000049271]
[ENSMUST00000196755]
[ENSMUST00000200522]
[ENSMUST00000199089]
[ENSMUST00000200553]
|
| AlphaFold |
Q3UK37 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000006523
|
| SMART Domains |
Protein: ENSMUSP00000006523
Gene: ENSMUSG00000006360
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
3 |
55 |
2e-14 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049271
AA Change: L119V
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035351
Gene: ENSMUSG00000037466
AA Change: L119V
| 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 |
noncoding transcript
Transcript: ENSMUST00000196505
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196755
AA Change: L118V
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000143431
Gene: ENSMUSG00000037466
AA Change: L118V
| 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: ENSMUST00000196932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198597
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199382
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199089
|
| SMART Domains |
Protein: ENSMUSP00000142803
Gene: ENSMUSG00000006360
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
54 |
106 |
9.5e-17 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200553
|
| SMART Domains |
Protein: ENSMUSP00000143680
Gene: ENSMUSG00000006360
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
3 |
55 |
2e-14 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
T |
A |
4: 137,182,101 (GRCm39) |
Y85* |
probably null |
Het |
| Abcg2 |
A |
G |
6: 58,662,681 (GRCm39) |
I508V |
probably benign |
Het |
| Adgrb2 |
T |
C |
4: 129,913,075 (GRCm39) |
|
probably null |
Het |
| Api5 |
T |
A |
2: 94,260,184 (GRCm39) |
H24L |
possibly damaging |
Het |
| Apoh |
T |
C |
11: 108,302,968 (GRCm39) |
V311A |
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Brca2 |
G |
T |
5: 150,484,255 (GRCm39) |
V2994L |
possibly damaging |
Het |
| Brd1 |
A |
T |
15: 88,585,080 (GRCm39) |
V918D |
probably damaging |
Het |
| Calr3 |
T |
G |
8: 73,197,304 (GRCm39) |
D43A |
possibly damaging |
Het |
| Cdh16 |
T |
C |
8: 105,348,737 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,995,548 (GRCm39) |
S2033P |
probably damaging |
Het |
| Dnah7a |
G |
A |
1: 53,564,194 (GRCm39) |
T1955M |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
| Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
| Eri2 |
T |
C |
7: 119,385,331 (GRCm39) |
D390G |
possibly damaging |
Het |
| Fank1 |
C |
T |
7: 133,481,758 (GRCm39) |
|
probably benign |
Het |
| Hoxb7 |
A |
T |
11: 96,177,570 (GRCm39) |
Y6F |
possibly damaging |
Het |
| Hspg2 |
A |
C |
4: 137,279,159 (GRCm39) |
S3081R |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,790,892 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
G |
11: 86,174,212 (GRCm39) |
I1762T |
probably benign |
Het |
| Mia2 |
A |
G |
12: 59,155,622 (GRCm39) |
D445G |
probably damaging |
Het |
| Or8h9 |
T |
C |
2: 86,789,697 (GRCm39) |
Y35C |
probably damaging |
Het |
| Plcg2 |
A |
T |
8: 118,330,622 (GRCm39) |
I827F |
possibly damaging |
Het |
| Poglut3 |
A |
G |
9: 53,295,551 (GRCm39) |
D51G |
probably benign |
Het |
| Rnls |
C |
A |
19: 33,115,684 (GRCm39) |
|
probably benign |
Het |
| Scn1a |
A |
T |
2: 66,129,962 (GRCm39) |
|
probably null |
Het |
| Sec22b |
T |
A |
3: 97,828,561 (GRCm39) |
V208E |
possibly damaging |
Het |
| Slc8a3 |
A |
T |
12: 81,361,868 (GRCm39) |
I317N |
probably damaging |
Het |
| Snx33 |
A |
G |
9: 56,834,043 (GRCm39) |
Y9H |
probably damaging |
Het |
| Stard9 |
C |
A |
2: 120,529,473 (GRCm39) |
T1910N |
probably damaging |
Het |
| Tas2r122 |
T |
A |
6: 132,688,753 (GRCm39) |
I47F |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,163,278 (GRCm39) |
S1090T |
probably benign |
Het |
| Tpcn2 |
T |
C |
7: 144,812,311 (GRCm39) |
D511G |
probably benign |
Het |
| Usp21 |
T |
C |
1: 171,110,669 (GRCm39) |
|
probably benign |
Het |
| Vmn2r17 |
T |
A |
5: 109,600,946 (GRCm39) |
L748Q |
probably damaging |
Het |
| Zp2 |
T |
C |
7: 119,734,564 (GRCm39) |
D495G |
possibly 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 |
|
|
IGL01151:Tedc1
|
APN |
12 |
113,126,808 (GRCm39) |
nonsense |
probably null |
|
|
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