Incidental Mutation 'IGL01074:Tedc1'
ID |
278153 |
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 # |
IGL01074
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,849,726 (GRCm39) |
D1934G |
possibly damaging |
Het |
Adcy2 |
A |
T |
13: 68,944,773 (GRCm39) |
I203N |
possibly damaging |
Het |
Asxl3 |
T |
C |
18: 22,655,902 (GRCm39) |
V1304A |
probably damaging |
Het |
Bltp3a |
A |
G |
17: 28,098,265 (GRCm39) |
I136V |
possibly damaging |
Het |
Cmah |
A |
G |
13: 24,648,238 (GRCm39) |
D491G |
possibly damaging |
Het |
Cobll1 |
A |
G |
2: 64,938,192 (GRCm39) |
S364P |
probably damaging |
Het |
Cspg4 |
T |
C |
9: 56,806,149 (GRCm39) |
L2320P |
probably damaging |
Het |
Defa5 |
T |
A |
8: 21,787,592 (GRCm39) |
F46L |
possibly damaging |
Het |
Erich6b |
T |
A |
14: 75,896,208 (GRCm39) |
N31K |
probably benign |
Het |
Fcrl6 |
C |
T |
1: 172,426,680 (GRCm39) |
V89M |
possibly damaging |
Het |
Gm5458 |
G |
T |
14: 19,649,760 (GRCm39) |
L155I |
probably damaging |
Het |
Hlx |
T |
C |
1: 184,460,010 (GRCm39) |
D376G |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,502,784 (GRCm39) |
S3948P |
possibly damaging |
Het |
Igf2bp2 |
G |
A |
16: 21,882,454 (GRCm39) |
R416W |
probably damaging |
Het |
Lama4 |
T |
C |
10: 38,974,484 (GRCm39) |
|
probably null |
Het |
Lingo4 |
T |
C |
3: 94,310,595 (GRCm39) |
V511A |
probably benign |
Het |
Mllt3 |
C |
A |
4: 87,710,118 (GRCm39) |
V29L |
probably benign |
Het |
Mmp16 |
T |
C |
4: 18,110,584 (GRCm39) |
|
probably benign |
Het |
Moxd1 |
A |
G |
10: 24,155,282 (GRCm39) |
R228G |
probably benign |
Het |
Myrfl |
T |
C |
10: 116,615,490 (GRCm39) |
N802S |
possibly damaging |
Het |
Nmu |
C |
A |
5: 76,491,774 (GRCm39) |
V121F |
probably damaging |
Het |
Npepps |
T |
C |
11: 97,108,637 (GRCm39) |
T760A |
probably damaging |
Het |
Ogfod1 |
G |
T |
8: 94,789,634 (GRCm39) |
W445L |
probably damaging |
Het |
Oplah |
G |
A |
15: 76,189,948 (GRCm39) |
P222S |
probably damaging |
Het |
Or4c116 |
T |
C |
2: 88,942,023 (GRCm39) |
T278A |
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,327,633 (GRCm39) |
L699H |
probably damaging |
Het |
Sod3 |
C |
T |
5: 52,525,540 (GRCm39) |
Q80* |
probably null |
Het |
Syne2 |
C |
T |
12: 76,078,361 (GRCm39) |
Q4732* |
probably null |
Het |
Syne2 |
T |
C |
12: 76,033,785 (GRCm39) |
I3678T |
probably benign |
Het |
Tmem220 |
T |
C |
11: 66,922,999 (GRCm39) |
|
probably benign |
Het |
Ush1c |
A |
G |
7: 45,874,674 (GRCm39) |
|
probably benign |
Het |
Wbp2nl |
T |
C |
15: 82,198,491 (GRCm39) |
S343P |
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 |
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 |
|
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 |