Incidental Mutation 'R1066:Tedc2'
ID |
86026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tedc2
|
Ensembl Gene |
ENSMUSG00000024118 |
Gene Name |
tubulin epsilon and delta complex 2 |
Synonyms |
1600002H07Rik |
MMRRC Submission |
039152-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.819)
|
Stock # |
R1066 (G1)
|
Quality Score |
200 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
24434028-24439825 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 24435292 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 366
(E366*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000024930
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024930]
|
AlphaFold |
Q6GQV0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000024930
AA Change: E366*
|
SMART Domains |
Protein: ENSMUSP00000024930 Gene: ENSMUSG00000024118 AA Change: E366*
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
49 |
N/A |
INTRINSIC |
low complexity region
|
78 |
84 |
N/A |
INTRINSIC |
low complexity region
|
111 |
131 |
N/A |
INTRINSIC |
Pfam:DUF4693
|
150 |
434 |
8.6e-145 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124557
|
SMART Domains |
Protein: ENSMUSP00000119405 Gene: ENSMUSG00000024118
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137648
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137883
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138818
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148704
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149916
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171563
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts8 |
T |
A |
9: 30,867,837 (GRCm39) |
C554S |
probably damaging |
Het |
Adarb2 |
T |
G |
13: 8,807,359 (GRCm39) |
F720C |
probably benign |
Het |
Arid5b |
T |
C |
10: 67,934,186 (GRCm39) |
D572G |
probably benign |
Het |
BB014433 |
C |
T |
8: 15,092,185 (GRCm39) |
V223M |
probably damaging |
Het |
Boc |
T |
C |
16: 44,311,047 (GRCm39) |
|
probably null |
Het |
Brf2 |
T |
C |
8: 27,613,974 (GRCm39) |
E404G |
probably benign |
Het |
Ces3a |
T |
A |
8: 105,782,288 (GRCm39) |
H380Q |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,712,764 (GRCm39) |
Y389* |
probably null |
Het |
Csmd3 |
A |
G |
15: 47,777,361 (GRCm39) |
F1182L |
probably damaging |
Het |
Dnah2 |
C |
A |
11: 69,338,645 (GRCm39) |
W3169L |
probably damaging |
Het |
Dnah3 |
T |
A |
7: 119,660,232 (GRCm39) |
E802D |
probably damaging |
Het |
Dtx4 |
G |
T |
19: 12,478,373 (GRCm39) |
T70K |
probably damaging |
Het |
Fat4 |
T |
C |
3: 39,011,376 (GRCm39) |
Y2159H |
probably damaging |
Het |
Flrt2 |
T |
A |
12: 95,745,833 (GRCm39) |
V57E |
probably damaging |
Het |
Gsdmc2 |
T |
A |
15: 63,696,899 (GRCm39) |
Y424F |
possibly damaging |
Het |
Igfn1 |
T |
C |
1: 135,898,463 (GRCm39) |
E701G |
probably benign |
Het |
Klhl42 |
T |
C |
6: 147,009,397 (GRCm39) |
V412A |
probably benign |
Het |
Mkln1 |
A |
C |
6: 31,395,922 (GRCm39) |
N52T |
possibly damaging |
Het |
Msantd5f6 |
C |
A |
4: 73,320,066 (GRCm39) |
V238L |
possibly damaging |
Het |
Myo15b |
A |
T |
11: 115,770,577 (GRCm39) |
M1519L |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or5b113 |
T |
C |
19: 13,342,451 (GRCm39) |
M153T |
probably benign |
Het |
P4ha3 |
G |
T |
7: 99,967,270 (GRCm39) |
V360L |
possibly damaging |
Het |
Pals2 |
A |
T |
6: 50,122,847 (GRCm39) |
N31I |
possibly damaging |
Het |
Phf14 |
T |
A |
6: 11,987,254 (GRCm39) |
D611E |
possibly damaging |
Het |
Pik3r1 |
T |
A |
13: 101,825,171 (GRCm39) |
R465S |
probably damaging |
Het |
Reep3 |
G |
T |
10: 66,870,445 (GRCm39) |
T117K |
probably damaging |
Het |
Reln |
G |
T |
5: 22,239,662 (GRCm39) |
N868K |
probably damaging |
Het |
Sdcbp |
T |
G |
4: 6,385,120 (GRCm39) |
I113S |
probably damaging |
Het |
Sema4c |
A |
T |
1: 36,589,281 (GRCm39) |
V615E |
possibly damaging |
Het |
Slc25a18 |
A |
G |
6: 120,765,249 (GRCm39) |
|
probably null |
Het |
Uba2 |
A |
T |
7: 33,858,247 (GRCm39) |
F70I |
probably damaging |
Het |
Usp42 |
A |
T |
5: 143,703,796 (GRCm39) |
H422Q |
probably damaging |
Het |
Vmn2r86 |
C |
T |
10: 130,282,145 (GRCm39) |
V824I |
probably benign |
Het |
Vps50 |
A |
C |
6: 3,533,565 (GRCm39) |
T266P |
probably damaging |
Het |
Znhit6 |
T |
A |
3: 145,284,252 (GRCm39) |
D141E |
probably damaging |
Het |
|
Other mutations in Tedc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01963:Tedc2
|
APN |
17 |
24,436,926 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02111:Tedc2
|
APN |
17 |
24,437,140 (GRCm39) |
splice site |
probably benign |
|
IGL02347:Tedc2
|
APN |
17 |
24,439,584 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03400:Tedc2
|
APN |
17 |
24,438,777 (GRCm39) |
missense |
probably benign |
|
R0766:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R0766:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1066:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1067:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1067:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1085:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1085:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1086:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1086:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1136:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1136:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1137:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1137:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1203:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1345:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1345:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1385:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1385:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1396:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1396:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1888:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1888:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1891:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1891:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1943:Tedc2
|
UTSW |
17 |
24,436,923 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1984:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1984:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1985:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1985:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R1986:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R1986:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R2026:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R2026:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R2054:Tedc2
|
UTSW |
17 |
24,435,292 (GRCm39) |
nonsense |
probably null |
|
R2054:Tedc2
|
UTSW |
17 |
24,435,291 (GRCm39) |
missense |
probably damaging |
1.00 |
R2086:Tedc2
|
UTSW |
17 |
24,436,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R2317:Tedc2
|
UTSW |
17 |
24,435,358 (GRCm39) |
missense |
probably benign |
0.00 |
R3705:Tedc2
|
UTSW |
17 |
24,435,361 (GRCm39) |
missense |
probably benign |
0.30 |
R4085:Tedc2
|
UTSW |
17 |
24,438,813 (GRCm39) |
missense |
probably benign |
0.01 |
R4664:Tedc2
|
UTSW |
17 |
24,439,114 (GRCm39) |
splice site |
probably benign |
|
R4676:Tedc2
|
UTSW |
17 |
24,438,985 (GRCm39) |
missense |
probably benign |
|
R4686:Tedc2
|
UTSW |
17 |
24,436,862 (GRCm39) |
critical splice donor site |
probably null |
|
R4762:Tedc2
|
UTSW |
17 |
24,435,354 (GRCm39) |
missense |
probably benign |
0.05 |
R4837:Tedc2
|
UTSW |
17 |
24,439,567 (GRCm39) |
missense |
probably damaging |
1.00 |
R4863:Tedc2
|
UTSW |
17 |
24,436,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R5936:Tedc2
|
UTSW |
17 |
24,435,315 (GRCm39) |
missense |
probably damaging |
1.00 |
R9159:Tedc2
|
UTSW |
17 |
24,436,705 (GRCm39) |
missense |
probably damaging |
1.00 |
R9643:Tedc2
|
UTSW |
17 |
24,435,328 (GRCm39) |
missense |
probably benign |
|
RF031:Tedc2
|
UTSW |
17 |
24,435,213 (GRCm39) |
critical splice donor site |
probably benign |
|
Z1177:Tedc2
|
UTSW |
17 |
24,439,545 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTACTGCTTCTCCCGAGACTTAC -3'
(R):5'- TGCATACTACGGGCTGCTACACAC -3'
Sequencing Primer
(F):5'- TCCCGAGACTTACCCTGG -3'
(R):5'- ctgcctgcctctgcctc -3'
|
Posted On |
2013-11-18 |